WorldWideScience

Sample records for systems genetics analyses

  1. Systems genetics of obesity in an F2 pig model by genome-wide association, genetic network and pathway analyses

    DEFF Research Database (Denmark)

    Kogelman, Lisette; Pant, Sameer Dinkar; Fredholm, Merete

    2014-01-01

    .g. metabolic processes. WISH networks based on genotypic correlations allowed further identification of various gene ontology terms and pathways related to obesity and related traits, which were not identified by the GWA study. In conclusion, this is the first study to develop a (genetic) obesity index...... investigations focusing on single genetic variants have achieved limited success, and the importance of including genetic interactions is becoming evident. Here, the aim was to perform an integrative genomic analysis in an F2 pig resource population that was constructed with an aim to maximize genetic variation...... of obesity-related phenotypes and genotyped using the 60K SNP chip. Firstly, Genome Wide Association (GWA) analysis was performed on the Obesity Index to locate candidate genomic regions that were further validated using combined Linkage Disequilibrium Linkage Analysis and investigated by evaluation...

  2. Graphical models for genetic analyses

    DEFF Research Database (Denmark)

    Lauritzen, Steffen Lilholt; Sheehan, Nuala A.

    2003-01-01

    This paper introduces graphical models as a natural environment in which to formulate and solve problems in genetics and related areas. Particular emphasis is given to the relationships among various local computation algorithms which have been developed within the hitherto mostly separate areas...... of graphical models and genetics. The potential of graphical models is explored and illustrated through a number of example applications where the genetic element is substantial or dominating....

  3. Towards systems genetic analyses in barley: Integration of phenotypic, expression and genotype data into GeneNetwork

    Directory of Open Access Journals (Sweden)

    Druka Arnis

    2008-11-01

    Full Text Available Abstract Background A typical genetical genomics experiment results in four separate data sets; genotype, gene expression, higher-order phenotypic data and metadata that describe the protocols, processing and the array platform. Used in concert, these data sets provide the opportunity to perform genetic analysis at a systems level. Their predictive power is largely determined by the gene expression dataset where tens of millions of data points can be generated using currently available mRNA profiling technologies. Such large, multidimensional data sets often have value beyond that extracted during their initial analysis and interpretation, particularly if conducted on widely distributed reference genetic materials. Besides quality and scale, access to the data is of primary importance as accessibility potentially allows the extraction of considerable added value from the same primary dataset by the wider research community. Although the number of genetical genomics experiments in different plant species is rapidly increasing, none to date has been presented in a form that allows quick and efficient on-line testing for possible associations between genes, loci and traits of interest by an entire research community. Description Using a reference population of 150 recombinant doubled haploid barley lines we generated novel phenotypic, mRNA abundance and SNP-based genotyping data sets, added them to a considerable volume of legacy trait data and entered them into the GeneNetwork http://www.genenetwork.org. GeneNetwork is a unified on-line analytical environment that enables the user to test genetic hypotheses about how component traits, such as mRNA abundance, may interact to condition more complex biological phenotypes (higher-order traits. Here we describe these barley data sets and demonstrate some of the functionalities GeneNetwork provides as an easily accessible and integrated analytical environment for exploring them. Conclusion By

  4. A systemic gene silencing method suitable for high throughput, reverse genetic analyses of gene function in fern gametophytes

    Directory of Open Access Journals (Sweden)

    Tanurdzic Milos

    2004-04-01

    Full Text Available Abstract Background Ceratopteris richardii is a useful experimental system for studying gametophyte development and sexual reproduction in plants. However, few tools for cloning mutant genes or disrupting gene function exist for this species. The feasibility of systemic gene silencing as a reverse genetics tool was examined in this study. Results Several DNA constructs targeting a Ceratopteris protoporphyrin IX magnesium chelatase (CrChlI gene that is required for chlorophyll biosynthesis were each introduced into young gametophytes by biolistic delivery. Their transient expression in individual cells resulted in a colorless cell phenotype that affected most cells of the mature gametophyte, including the meristem and gametangia. The colorless phenotype was associated with a 7-fold decrease in the abundance of the endogenous transcript. While a construct designed to promote the transient expression of a CrChlI double stranded, potentially hairpin-forming RNA was found to be the most efficient in systemically silencing the endogenous gene, a plasmid containing the CrChlI cDNA insert alone was sufficient to induce silencing. Bombarded, colorless hermaphroditic gametophytes produced colorless embryos following self-fertilization, demonstrating that the silencing signal could be transmitted through gametogenesis and fertilization. Bombardment of young gametophytes with constructs targeting the Ceratopteris filamentous temperature sensitive (CrFtsZ and uroporphyrin dehydrogenase (CrUrod genes also produced the expected mutant phenotypes. Conclusion A method that induces the systemic silencing of target genes in the Ceratopteris gametophyte is described. It provides a simple, inexpensive and rapid means to test the functions of genes involved in gametophyte development, especially those involved in cellular processes common to all plants.

  5. Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

    Science.gov (United States)

    Graham, Deborah S Cunninghame; Pinder, Christopher L; Tombleson, Philip; Behrens, Timothy W; Martín, Javier; Fairfax, Benjamin P; Knight, Julian C; Chen, Lingyan; Replogle, Joseph; Syvänen, Ann-Christine; Rönnblom, Lars; Graham, Robert R; Wither, Joan E; Rioux, John D; Alarcón-Riquelme, Marta E; Vyse, Timothy J

    2015-01-01

    Systemic lupus erythematosus (SLE; OMIM 152700) is a genetically complex autoimmune disease characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous genome-wide association studies (GWAS) had modest sample sizes, reducing their scope and reliability. Our study comprised 7,219 cases and 15,991 controls of European ancestry: a new GWAS, meta-analysis with a published GWAS and a replication study. We have mapped 43 susceptibility loci, including 10 novel associations. Assisted by dense genome coverage, imputation provided evidence for missense variants underpinning associations in eight genes. Other likely causal genes were established by examining associated alleles for cis-acting eQTL effects in a range of ex vivo immune cells. We found an over-representation (n=16) of transcription factors among SLE susceptibility genes. This supports the view that aberrantly regulated gene expression networks in multiple cell types in both the innate and adaptive immune response contribute to the risk of developing SLE. PMID:26502338

  6. Genetic analyses for deciphering the status and role of ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 96; Issue 1. Genetic analyses for deciphering the status and role of photoperiodic and maturity genes in major Indian soybean cultivars. SANJAY GUPTA VIRENDER SINGH BHATIA GIRIRAJ KUMAWAT DEVSHREE THAKUR GOURAV SINGH RACHANA TRIPATHI GYANESH ...

  7. Systems Genetic Analyses Highlight a TGFβ-FOXO3 Dependent Striatal Astrocyte Network Conserved across Species and Associated with Stress, Sleep, and Huntington's Disease.

    Science.gov (United States)

    Scarpa, Joseph R; Jiang, Peng; Losic, Bojan; Readhead, Ben; Gao, Vance D; Dudley, Joel T; Vitaterna, Martha H; Turek, Fred W; Kasarskis, Andrew

    2016-07-01

    Recent systems-based analyses have demonstrated that sleep and stress traits emerge from shared genetic and transcriptional networks, and clinical work has elucidated the emergence of sleep dysfunction and stress susceptibility as early symptoms of Huntington's disease. Understanding the biological bases of these early non-motor symptoms may reveal therapeutic targets that prevent disease onset or slow disease progression, but the molecular mechanisms underlying this complex clinical presentation remain largely unknown. In the present work, we specifically examine the relationship between these psychiatric traits and Huntington's disease (HD) by identifying striatal transcriptional networks shared by HD, stress, and sleep phenotypes. First, we utilize a systems-based approach to examine a large publicly available human transcriptomic dataset for HD (GSE3790 from GEO) in a novel way. We use weighted gene coexpression network analysis and differential connectivity analyses to identify transcriptional networks dysregulated in HD, and we use an unbiased ranking scheme that leverages both gene- and network-level information to identify a novel astrocyte-specific network as most relevant to HD caudate. We validate this result in an independent HD cohort. Next, we computationally predict FOXO3 as a regulator of this network, and use multiple publicly available in vitro and in vivo experimental datasets to validate that this astrocyte HD network is downstream of a signaling pathway important in adult neurogenesis (TGFβ-FOXO3). We also map this HD-relevant caudate subnetwork to striatal transcriptional networks in a large (n = 100) chronically stressed (B6xA/J)F2 mouse population that has been extensively phenotyped (328 stress- and sleep-related measurements), and we show that this striatal astrocyte network is correlated to sleep and stress traits, many of which are known to be altered in HD cohorts. We identify causal regulators of this network through Bayesian network

  8. Descriptive Analyses of Mechanical Systems

    DEFF Research Database (Denmark)

    Andreasen, Mogens Myrup; Hansen, Claus Thorp

    2003-01-01

    Forord Produktanalyse og teknologianalyse kan gennmføres med et bredt socio-teknisk sigte med henblik på at forstå kulturelle, sociologiske, designmæssige, forretningsmæssige og mange andre forhold. Et delområde heri er systemisk analyse og beskrivelse af produkter og systemer. Nærværende kompend...

  9. A review of multivariate analyses in imaging genetics

    Directory of Open Access Journals (Sweden)

    Jingyu eLiu

    2014-03-01

    Full Text Available Recent advances in neuroimaging technology and molecular genetics provide the unique opportunity to investigate genetic influence on the variation of brain attributes. Since the year 2000, when the initial publication on brain imaging and genetics was released, imaging genetics has been a rapidly growing research approach with increasing publications every year. Several reviews have been offered to the research community focusing on various study designs. In addition to study design, analytic tools and their proper implementation are also critical to the success of a study. In this review, we survey recent publications using data from neuroimaging and genetics, focusing on methods capturing multivariate effects accommodating the large number of variables from both imaging data and genetic data. We group the analyses of genetic or genomic data into either a prior driven or data driven approach, including gene-set enrichment analysis, multifactor dimensionality reduction, principal component analysis, independent component analysis (ICA, and clustering. For the analyses of imaging data, ICA and extensions of ICA are the most widely used multivariate methods. Given detailed reviews of multivariate analyses of imaging data available elsewhere, we provide a brief summary here that includes a recently proposed method known as independent vector analysis. Finally, we review methods focused on bridging the imaging and genetic data by establishing multivariate and multiple genotype-phenotype associations, including sparse partial least squares, sparse canonical correlation analysis, sparse reduced rank regression and parallel ICA. These methods are designed to extract latent variables from both genetic and imaging data, which become new genotypes and phenotypes, and the links between the new genotype-phenotype pairs are maximized using different cost functions. The relationship between these methods along with their assumptions, advantages, and

  10. A weighted U statistic for association analyses considering genetic heterogeneity.

    Science.gov (United States)

    Wei, Changshuai; Elston, Robert C; Lu, Qing

    2016-07-20

    Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and structural variations predisposing to human diseases, the impact of heterogeneity in genetic studies of complex diseases has been largely overlooked. Most of the existing statistical methods assume the disease under investigation has a homogeneous genetic effect and could, therefore, have low power if the disease undergoes heterogeneous pathophysiological and etiological processes. In this paper, we propose a heterogeneity-weighted U (HWU) method for association analyses considering genetic heterogeneity. HWU can be applied to various types of phenotypes (e.g., binary and continuous) and is computationally efficient for high-dimensional genetic data. Through simulations, we showed the advantage of HWU when the underlying genetic etiology of a disease was heterogeneous, as well as the robustness of HWU against different model assumptions (e.g., phenotype distributions). Using HWU, we conducted a genome-wide analysis of nicotine dependence from the Study of Addiction: Genetics and Environments dataset. The genome-wide analysis of nearly one million genetic markers took 7h, identifying heterogeneous effects of two new genes (i.e., CYP3A5 and IKBKB) on nicotine dependence. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  11. The optokinetic reflex as a tool for quantitative analyses of nervous system function in mice: application to genetic and drug-induced variation.

    Directory of Open Access Journals (Sweden)

    Hugh Cahill

    2008-04-01

    Full Text Available The optokinetic reflex (OKR, which serves to stabilize a moving image on the retina, is a behavioral response that has many favorable attributes as a test of CNS function. The OKR requires no training, assesses the function of diverse CNS circuits, can be induced repeatedly with minimal fatigue or adaptation, and produces an electronic record that is readily and objectively quantifiable. We describe a new type of OKR test apparatus in which computer-controlled visual stimuli and streamlined data analysis facilitate a relatively high throughput behavioral assay. We used this apparatus, in conjunction with infrared imaging, to quantify basic OKR stimulus-response characteristics for C57BL/6J and 129/SvEv mouse strains and for genetically engineered lines lacking one or more photoreceptor systems or with an alteration in cone spectral sensitivity. A second generation (F2 cross shows that the characteristic difference in OKR frequency between C57BL/6J and 129/SvEv is inherited as a polygenic trait. Finally, we demonstrate the sensitivity and high temporal resolution of the OKR for quantitative analysis of CNS drug action. These experiments show that the mouse OKR is well suited for neurologic testing in the context of drug discovery and large-scale phenotyping programs.

  12. An extensible analysable system model

    DEFF Research Database (Denmark)

    Probst, Christian W.; Hansen, Rene Rydhof

    2008-01-01

    , this does not hold for real physical systems. Approaches such as threat modelling try to target the formalisation of the real-world domain, but still are far from the rigid techniques available in security research. Many currently available approaches to assurance of critical infrastructure security...

  13. Genetic analyses of bolting in bulb onion (Allium cepa L.).

    Science.gov (United States)

    Baldwin, Samantha; Revanna, Roopashree; Pither-Joyce, Meeghan; Shaw, Martin; Wright, Kathryn; Thomson, Susan; Moya, Leire; Lee, Robyn; Macknight, Richard; McCallum, John

    2014-03-01

    We present the first evidence for a QTL conditioning an adaptive trait in bulb onion, and the first linkage and population genetics analyses of candidate genes involved in photoperiod and vernalization physiology. Economic production of bulb onion (Allium cepa L.) requires adaptation to photoperiod and temperature such that a bulb is formed in the first year and a flowering umbel in the second. 'Bolting', or premature flowering before bulb maturation, is an undesirable trait strongly selected against by breeders during adaptation of germplasm. To identify genome regions associated with adaptive traits we conducted linkage mapping and population genetic analyses of candidate genes, and QTL analysis of bolting using a low-density linkage map. We performed tagged amplicon sequencing of ten candidate genes, including the FT-like gene family, in eight diverse populations to identify polymorphisms and seek evidence of differentiation. Low nucleotide diversity and negative estimates of Tajima's D were observed for most genes, consistent with purifying selection. Significant population differentiation was observed only in AcFT2 and AcSOC1. Selective genotyping in a large 'Nasik Red × CUDH2150' F2 family revealed genome regions on chromosomes 1, 3 and 6 associated (LOD > 3) with bolting. Validation genotyping of two F2 families grown in two environments confirmed that a QTL on chromosome 1, which we designate AcBlt1, consistently conditions bolting susceptibility in this cross. The chromosome 3 region, which coincides with a functionally characterised acid invertase, was not associated with bolting in other environments, but showed significant association with bulb sucrose content in this and other mapping pedigrees. These putative QTL and candidate genes were placed on the onion map, enabling future comparative studies of adaptive traits.

  14. Genetic analyses for conformation traits in South African Jersey and ...

    African Journals Online (AJOL)

    JACO

    Genetic trends for conformation traits of the South African Holstein show that ... conformation traits can be used to improve stayability, fertility and disease resistance (Rogers et al., 1999; .... Genetic correlations among protein yield, productive.

  15. Litter size, fur quality and genetic analyses of American mink

    DEFF Research Database (Denmark)

    Thirstrup, Janne Pia

    of the skin, have been analyzed. Both fur quality traits and litter size are complex traits underlying quantitative genetic variation. Methods for estimating genetic variance, spanning from pedigree information to the use of different genetic markers, have been utilized in order to gain knowledge about...

  16. Multicollinearity in spatial genetics: separating the wheat from the chaff using commonality analyses.

    Science.gov (United States)

    Prunier, J G; Colyn, M; Legendre, X; Nimon, K F; Flamand, M C

    2015-01-01

    Direct gradient analyses in spatial genetics provide unique opportunities to describe the inherent complexity of genetic variation in wildlife species and are the object of many methodological developments. However, multicollinearity among explanatory variables is a systemic issue in multivariate regression analyses and is likely to cause serious difficulties in properly interpreting results of direct gradient analyses, with the risk of erroneous conclusions, misdirected research and inefficient or counterproductive conservation measures. Using simulated data sets along with linear and logistic regressions on distance matrices, we illustrate how commonality analysis (CA), a detailed variance-partitioning procedure that was recently introduced in the field of ecology, can be used to deal with nonindependence among spatial predictors. By decomposing model fit indices into unique and common (or shared) variance components, CA allows identifying the location and magnitude of multicollinearity, revealing spurious correlations and thus thoroughly improving the interpretation of multivariate regressions. Despite a few inherent limitations, especially in the case of resistance model optimization, this review highlights the great potential of CA to account for complex multicollinearity patterns in spatial genetics and identifies future applications and lines of research. We strongly urge spatial geneticists to systematically investigate commonalities when performing direct gradient analyses. © 2014 John Wiley & Sons Ltd.

  17. Genetic, molecular and functional analyses of complement factor I deficiency

    DEFF Research Database (Denmark)

    Nilsson, S.C.; Trouw, L.A.; Renault, N.

    2009-01-01

    Complete deficiency of complement inhibitor factor I (FI) results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation leading to susceptibility to infections. Current genetic examination of two patients with near complete FI deficiency and three patie...

  18. Genetic analyses of agronomic and seed quality traits of synthetic ...

    Indian Academy of Sciences (India)

    As for protein content, similar results were found in the F2 plants and their maternal parents. ... doubled haploid; genetic analysis; gene interaction; agronomic traits; seed ..... Han J. Q. and Liu H. L. 1993 Principal component analysis for main.

  19. Power System Oscillatory Behaviors: Sources, Characteristics, & Analyses

    Energy Technology Data Exchange (ETDEWEB)

    Follum, James D. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Tuffner, Francis K. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Dosiek, Luke A. [Union College, Schenectady, NY (United States); Pierre, John W. [Univ. of Wyoming, Laramie, WY (United States)

    2017-05-17

    This document is intended to provide a broad overview of the sources, characteristics, and analyses of natural and forced oscillatory behaviors in power systems. These aspects are necessarily linked. Oscillations appear in measurements with distinguishing characteristics derived from the oscillation’s source. These characteristics determine which analysis methods can be appropriately applied, and the results from these analyses can only be interpreted correctly with an understanding of the oscillation’s origin. To describe oscillations both at their source within a physical power system and within measurements, a perspective from the boundary between power system and signal processing theory has been adopted.

  20. gPGA: GPU Accelerated Population Genetics Analyses.

    Directory of Open Access Journals (Sweden)

    Chunbao Zhou

    Full Text Available The isolation with migration (IM model is important for studies in population genetics and phylogeography. IM program applies the IM model to genetic data drawn from a pair of closely related populations or species based on Markov chain Monte Carlo (MCMC simulations of gene genealogies. But computational burden of IM program has placed limits on its application.With strong computational power, Graphics Processing Unit (GPU has been widely used in many fields. In this article, we present an effective implementation of IM program on one GPU based on Compute Unified Device Architecture (CUDA, which we call gPGA.Compared with IM program, gPGA can achieve up to 52.30X speedup on one GPU. The evaluation results demonstrate that it allows datasets to be analyzed effectively and rapidly for research on divergence population genetics. The software is freely available with source code at https://github.com/chunbaozhou/gPGA.

  1. Genetic recombinational and physical linkage analyses on slash pine

    Science.gov (United States)

    Rob Doudrick

    1996-01-01

    Slash pine is native to the southeastern USA, but is commercially valuable world-wide as a timber-,fiber- and resin-producing species. Breeding objectives emphasize selection for fusiform rust disease resistance. Identification of markers linked to genetic factors conditioning specificity should expand our knowledge of disease development. Towards this end, random...

  2. Biodiversity analyses for risk assessment of genetically modified potato

    NARCIS (Netherlands)

    Lazebnik, Jenny; Dicke, Marcel; Braak, ter Cajo J.F.; Loon, van Joop J.A.

    2017-01-01

    An environmental risk assessment for the introduction of genetically modified crops includes assessing the consequences for biodiversity. In this study arthropod biodiversity was measured using pitfall traps in potato agro-ecosystems in Ireland and The Netherlands over two years. We tested the

  3. RESEARCH NOTE Genetic Analyses for Deciphering the Status and ...

    Indian Academy of Sciences (India)

    Precision breeding for developing varieties for a specific area would involve ... Presently India is the fifth largest soybean producing country after US, Brazil, ... Genetic analysis at E3 and E4 loci and assessment of effect of photoperiodic ... outsourced (Scigenom, Banglore) for Sanger sequencing of coding region of E1.

  4. Genetics, systems, and alcohol.

    Science.gov (United States)

    McClearn, G E

    1993-03-01

    Under a variety of rubrics (e.g., complexity, self-constructing systems, dissipative structures), interest has recently burgeoned in applying principles of complex systems to a wide variety of scientific issues. A major concern is with emergent properties of systems not derivable from the properties of components of the systems. In this paper, some elementary aspects of "systems" considerations are applied to phenomena of alcohol pharmacogenetics. It is likely that whole new families of informative phenotypes can be generated by this approach.

  5. Marburg Virus Reverse Genetics Systems

    Directory of Open Access Journals (Sweden)

    Kristina Maria Schmidt

    2016-06-01

    Full Text Available The highly pathogenic Marburg virus (MARV is a member of the Filoviridae family and belongs to the group of nonsegmented negative-strand RNA viruses. Reverse genetics systems established for MARV have been used to study various aspects of the viral replication cycle, analyze host responses, image viral infection, and screen for antivirals. This article provides an overview of the currently established MARV reverse genetic systems based on minigenomes, infectious virus-like particles and full-length clones, and the research that has been conducted using these systems.

  6. An integrated system for genetic analysis

    Directory of Open Access Journals (Sweden)

    Duan Xiao

    2006-04-01

    Full Text Available Abstract Background Large-scale genetic mapping projects require data management systems that can handle complex phenotypes and detect and correct high-throughput genotyping errors, yet are easy to use. Description We have developed an Integrated Genotyping System (IGS to meet this need. IGS securely stores, edits and analyses genotype and phenotype data. It stores information about DNA samples, plates, primers, markers and genotypes generated by a genotyping laboratory. Data are structured so that statistical genetic analysis of both case-control and pedigree data is straightforward. Conclusion IGS can model complex phenotypes and contain genotypes from whole genome association studies. The database makes it possible to integrate genetic analysis with data curation. The IGS web site http://bioinformatics.well.ox.ac.uk/project-igs.shtml contains further information.

  7. Mobile Genome Express (MGE: A comprehensive automatic genetic analyses pipeline with a mobile device.

    Directory of Open Access Journals (Sweden)

    Jun-Hee Yoon

    Full Text Available The development of next-generation sequencing (NGS technology allows to sequence whole exomes or genome. However, data analysis is still the biggest bottleneck for its wide implementation. Most laboratories still depend on manual procedures for data handling and analyses, which translates into a delay and decreased efficiency in the delivery of NGS results to doctors and patients. Thus, there is high demand for developing an automatic and an easy-to-use NGS data analyses system. We developed comprehensive, automatic genetic analyses controller named Mobile Genome Express (MGE that works in smartphones or other mobile devices. MGE can handle all the steps for genetic analyses, such as: sample information submission, sequencing run quality check from the sequencer, secured data transfer and results review. We sequenced an Actrometrix control DNA containing multiple proven human mutations using a targeted sequencing panel, and the whole analysis was managed by MGE, and its data reviewing program called ELECTRO. All steps were processed automatically except for the final sequencing review procedure with ELECTRO to confirm mutations. The data analysis process was completed within several hours. We confirmed the mutations that we have identified were consistent with our previous results obtained by using multi-step, manual pipelines.

  8. Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device.

    Science.gov (United States)

    Yoon, Jun-Hee; Kim, Thomas W; Mendez, Pedro; Jablons, David M; Kim, Il-Jin

    2017-01-01

    The development of next-generation sequencing (NGS) technology allows to sequence whole exomes or genome. However, data analysis is still the biggest bottleneck for its wide implementation. Most laboratories still depend on manual procedures for data handling and analyses, which translates into a delay and decreased efficiency in the delivery of NGS results to doctors and patients. Thus, there is high demand for developing an automatic and an easy-to-use NGS data analyses system. We developed comprehensive, automatic genetic analyses controller named Mobile Genome Express (MGE) that works in smartphones or other mobile devices. MGE can handle all the steps for genetic analyses, such as: sample information submission, sequencing run quality check from the sequencer, secured data transfer and results review. We sequenced an Actrometrix control DNA containing multiple proven human mutations using a targeted sequencing panel, and the whole analysis was managed by MGE, and its data reviewing program called ELECTRO. All steps were processed automatically except for the final sequencing review procedure with ELECTRO to confirm mutations. The data analysis process was completed within several hours. We confirmed the mutations that we have identified were consistent with our previous results obtained by using multi-step, manual pipelines.

  9. Skin barrier and contact allergy: Genetic risk factor analyses

    DEFF Research Database (Denmark)

    Ross-Hansen, Katrine

    2013-01-01

    allergy. Objectives To evaluate the effect of specific gene polymorphisms on the risk of developing contact allergy by a candidate gene approach. These included polymorphisms in the glutathione S-transferase genes (GSTM1, -T1 and -P1 variants), the claudin-1 gene (CLDN1), and the filaggrin gene (FLG......) in particular. Methods Epidemiological genetic association studies were performed on a general Danish population. Participants were patch tested, answered a questionnaire on general health and were genotyped for GST, CLDN1 and FLG polymorphisms. Filaggrin’s nickel binding potential was evaluated biochemically...

  10. Used Fuel Management System Interface Analyses - 13578

    Energy Technology Data Exchange (ETDEWEB)

    Howard, Robert; Busch, Ingrid [Oak Ridge National Laboratory, P.O. Box 2008, Bldg. 5700, MS-6170, Oak Ridge, TN 37831 (United States); Nutt, Mark; Morris, Edgar; Puig, Francesc [Argonne National Laboratory (United States); Carter, Joe; Delley, Alexcia; Rodwell, Phillip [Savannah River National Laboratory (United States); Hardin, Ernest; Kalinina, Elena [Sandia National Laboratories (United States); Clark, Robert [U.S. Department of Energy (United States); Cotton, Thomas [Complex Systems Group (United States)

    2013-07-01

    Preliminary system-level analyses of the interfaces between at-reactor used fuel management, consolidated storage facilities, and disposal facilities, along with the development of supporting logistics simulation tools, have been initiated to provide the U.S. Department of Energy (DOE) and other stakeholders with information regarding the various alternatives for managing used nuclear fuel (UNF) generated by the current fleet of light water reactors operating in the United States. An important UNF management system interface consideration is the need for ultimate disposal of UNF assemblies contained in waste packages that are sized to be compatible with different geologic media. Thermal analyses indicate that waste package sizes for the geologic media under consideration by the Used Fuel Disposition Campaign may be significantly smaller than the canisters being used for on-site dry storage by the nuclear utilities. Therefore, at some point along the UNF disposition pathway, there could be a need to repackage fuel assemblies already loaded and being loaded into the dry storage canisters currently in use. The implications of where and when the packaging or repackaging of commercial UNF will occur are key questions being addressed in this evaluation. The analysis demonstrated that thermal considerations will have a major impact on the operation of the system and that acceptance priority, rates, and facility start dates have significant system implications. (authors)

  11. Analysing Terrorism from a Systems Thinking Perspective

    Directory of Open Access Journals (Sweden)

    Lukas Schoenenberger

    2014-02-01

    Full Text Available Given the complexity of terrorism, solutions based on single factors are destined to fail. Systems thinking offers various tools for helping researchers and policy makers comprehend terrorism in its entirety. We have developed a semi-quantitative systems thinking approach for characterising relationships between variables critical to terrorism and their impact on the system as a whole. For a better understanding of the mechanisms underlying terrorism, we present a 16-variable model characterising the critical components of terrorism and perform a series of highly focused analyses. We show how to determine which variables are best suited for government intervention, describing in detail their effects on the key variable—the political influence of a terrorist network. We also offer insights into how to elicit variables that destabilise and ultimately break down these networks. Because we clarify our novel approach with fictional data, the primary importance of this paper lies in the new framework for reasoning that it provides.

  12. Externalizing Behaviour for Analysing System Models

    DEFF Research Database (Denmark)

    Ivanova, Marieta Georgieva; Probst, Christian W.; Hansen, René Rydhof

    2013-01-01

    System models have recently been introduced to model organisations and evaluate their vulnerability to threats and especially insider threats. Especially for the latter these models are very suitable, since insiders can be assumed to have more knowledge about the attacked organisation than outside...... attackers. Therefore, many attacks are considerably easier to be performed for insiders than for outsiders. However, current models do not support explicit specification of different behaviours. Instead, behaviour is deeply embedded in the analyses supported by the models, meaning that it is a complex......, if not impossible task to change behaviours. Especially when considering social engineering or the human factor in general, the ability to use different kinds of behaviours is essential. In this work we present an approach to make the behaviour a separate component in system models, and explore how to integrate...

  13. Reproducibility of neuroimaging analyses across operating systems.

    Science.gov (United States)

    Glatard, Tristan; Lewis, Lindsay B; Ferreira da Silva, Rafael; Adalat, Reza; Beck, Natacha; Lepage, Claude; Rioux, Pierre; Rousseau, Marc-Etienne; Sherif, Tarek; Deelman, Ewa; Khalili-Mahani, Najmeh; Evans, Alan C

    2015-01-01

    Neuroimaging pipelines are known to generate different results depending on the computing platform where they are compiled and executed. We quantify these differences for brain tissue classification, fMRI analysis, and cortical thickness (CT) extraction, using three of the main neuroimaging packages (FSL, Freesurfer and CIVET) and different versions of GNU/Linux. We also identify some causes of these differences using library and system call interception. We find that these packages use mathematical functions based on single-precision floating-point arithmetic whose implementations in operating systems continue to evolve. While these differences have little or no impact on simple analysis pipelines such as brain extraction and cortical tissue classification, their accumulation creates important differences in longer pipelines such as subcortical tissue classification, fMRI analysis, and cortical thickness extraction. With FSL, most Dice coefficients between subcortical classifications obtained on different operating systems remain above 0.9, but values as low as 0.59 are observed. Independent component analyses (ICA) of fMRI data differ between operating systems in one third of the tested subjects, due to differences in motion correction. With Freesurfer and CIVET, in some brain regions we find an effect of build or operating system on cortical thickness. A first step to correct these reproducibility issues would be to use more precise representations of floating-point numbers in the critical sections of the pipelines. The numerical stability of pipelines should also be reviewed.

  14. System for analysing sickness absenteeism in Poland.

    Science.gov (United States)

    Indulski, J A; Szubert, Z

    1997-01-01

    The National System of Sickness Absenteeism Statistics has been functioning in Poland since 1977, as the part of the national health statistics. The system is based on a 15-percent random sample of copies of certificates of temporary incapacity for work issued by all health care units and authorised private medical practitioners. A certificate of temporary incapacity for work is received by every insured employee who is compelled to stop working due to sickness, accident, or due to the necessity to care for a sick member of his/her family. The certificate is required on the first day of sickness. Analyses of disease- and accident-related sickness absenteeism carried out each year in Poland within the statistical system lead to the main conclusions: 1. Diseases of the musculoskeletal and peripheral nervous systems accounting, when combined, for 1/3 of the total sickness absenteeism, are a major health problem of the working population in Poland. During the past five years, incapacity for work caused by these diseases in males increased 2.5 times. 2. Circulatory diseases, and arterial hypertension and ischaemic heart disease in particular (41% and 27% of sickness days, respectively), create an essential health problem among males at productive age, especially, in the 40 and older age group. Absenteeism due to these diseases has increased in males more than two times.

  15. Correlation of Klebsiella pneumoniae comparative genetic analyses with virulence profiles in a murine respiratory disease model.

    Directory of Open Access Journals (Sweden)

    Ramy A Fodah

    Full Text Available Klebsiella pneumoniae is a bacterial pathogen of worldwide importance and a significant contributor to multiple disease presentations associated with both nosocomial and community acquired disease. ATCC 43816 is a well-studied K. pneumoniae strain which is capable of causing an acute respiratory disease in surrogate animal models. In this study, we performed sequencing of the ATCC 43816 genome to support future efforts characterizing genetic elements required for disease. Furthermore, we performed comparative genetic analyses to the previously sequenced genomes from NTUH-K2044 and MGH 78578 to gain an understanding of the conservation of known virulence determinants amongst the three strains. We found that ATCC 43816 and NTUH-K2044 both possess the known virulence determinant for yersiniabactin, as well as a Type 4 secretion system (T4SS, CRISPR system, and an acetonin catabolism locus, all absent from MGH 78578. While both NTUH-K2044 and MGH 78578 are clinical isolates, little is known about the disease potential of these strains in cell culture and animal models. Thus, we also performed functional analyses in the murine macrophage cell lines RAW264.7 and J774A.1 and found that MGH 78578 (K52 serotype was internalized at higher levels than ATCC 43816 (K2 and NTUH-K2044 (K1, consistent with previous characterization of the antiphagocytic properties of K1 and K2 serotype capsules. We also examined the three K. pneumoniae strains in a novel BALB/c respiratory disease model and found that ATCC 43816 and NTUH-K2044 are highly virulent (LD50<100 CFU while MGH 78578 is relatively avirulent.

  16. Diversity of primary care systems analysed.

    NARCIS (Netherlands)

    Kringos, D.; Boerma, W.; Bourgueil, Y.; Cartier, T.; Dedeu, T.; Hasvold, T.; Hutchinson, A.; Lember, M.; Oleszczyk, M.; Pavlick, D.R.

    2015-01-01

    This chapter analyses differences between countries and explains why countries differ regarding the structure and process of primary care. The components of primary care strength that are used in the analyses are health policy-making, workforce development and in the care process itself (see Fig.

  17. Genetic analyses of herding traits in the Border Collie using sheepdog trial data.

    Science.gov (United States)

    Storteig Horn, S; Steinheim, G; Fjerdingby Olsen, H; Gjerjordet, H F; Klemetsdal, G

    2017-04-01

    The aim of this study was to evaluate the quality of the data provided from sheepdog trials in Norway, estimate heritabilities, repeatabilities and genetic correlations for the traits included in the trial and make recommendations on how sheepdog trials best can be utilized in the breeding of Border Collies in Norway. The analyses were based on test results from sheepdog trials carried out in Norway from 1993 to 2012. A total of 45 732 records from 3841 Border Collies were available, but after quality assurance only a third was left. The results demonstrated little information in the data. Heritabilities varied between 0.010 and 0.056 with standard errors ranging from 0.010 to 0.023, while repeatabilities ranged from 0.041 to 0.286. There is a need to assure the quality of data to improve the information in the test results. We recommend adding new traits based on the Herding Trait Characterization scheme evaluated in Sweden, and on traits from the predatory motor pattern, regarded as common for all dogs. These new traits may be scored across the elements that make up the current trial system, which should be kept in place to stimulate participation in the genetic evaluation scheme. © 2016 Blackwell Verlag GmbH.

  18. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2013-01-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  19. Overview of system reliability analyses for PSA

    International Nuclear Information System (INIS)

    Matsuoka, Takeshi

    2012-01-01

    Overall explanations are given for many matters relating to system reliability analysis. Systems engineering, Operations research, Industrial engineering, Quality control are briefly explained. Many system reliability analysis methods including advanced methods are introduced. Discussions are given for FMEA, reliability block diagram, Markov model, Petri net, Bayesian network, goal tree success tree, dynamic flow graph methodology, cell-to-cell mapping technique, the GO-FLOW and others. (author)

  20. Modelling and Analyses of Embedded Systems Design

    DEFF Research Database (Denmark)

    Brekling, Aske Wiid

    We present the MoVES languages: a language with which embedded systems can be specified at a stage in the development process where an application is identified and should be mapped to an execution platform (potentially multi- core). We give a formal model for MoVES that captures and gives......-based verification is a promising approach for assisting developers of embedded systems. We provide examples of system verifications that, in size and complexity, point in the direction of industrially-interesting systems....... semantics to the elements of specifications in the MoVES language. We show that even for seem- ingly simple systems, the complexity of verifying real-time constraints can be overwhelming - but we give an upper limit to the size of the search-space that needs examining. Furthermore, the formal model exposes...

  1. Phylogeographic analyses and genetic structure illustrate the complex evolutionary history of Phragmites australis in Mexico.

    Science.gov (United States)

    Colin, Ricardo; Eguiarte, Luis E

    2016-05-01

    Genetic data suggest that three lineages of Phragmites australis are found in North America: the Native North American lineage, the Gulf Coast lineage, and the Invasive lineage. In Mexico, P. australis is a common species, but nothing is known about the distribution or ecology of these lineages. We examined the phylogeography of P. australis to analyze the current geographic distribution of genetic variation, demographic history, and dispersal patterns to better understand its evolutionary history in Mexico. We sampled 427 individuals from 28 populations. We used two noncoding regions of chloroplast DNA to estimate the levels of genetic variation and identified the genetic groups across the species' geographical range in Mexico. We compared the genealogical relationships among haplotypes with those previously reported. A hypothesis of demographic expansion was also tested for the Mexican P. australis lineages. We found 13 new haplotypes native to Mexico that might be undergoing an active process of expansion and diversification. Genealogical analyses provided evidence that two independent lineages of P. australis are present in Mexico. The invasive lineage was not detected with our sampling. Our estimates of population expansions in Mexico ranged from 0.202 to 0.726 mya. Phragmites australis is a native species that has been in Mexico for thousands of years. Genetic data suggest that climatic changes during the Pleistocene played an important role in the demographic expansion of the populations that constitute the different genetic groups of P. australis in Mexico. © 2016 Botanical Society of America.

  2. Modelling and Analysing Socio-Technical Systems

    DEFF Research Database (Denmark)

    Aslanyan, Zaruhi; Ivanova, Marieta Georgieva; Nielson, Flemming

    2015-01-01

    Modern organisations are complex, socio-technical systems consisting of a mixture of physical infrastructure, human actors, policies and processes. An in-creasing number of attacks on these organisations exploits vulnerabilities on all different levels, for example combining a malware attack...

  3. Modeling and Analysing Socio-Technical Systems

    NARCIS (Netherlands)

    Aslanyan, Zaruhi; Ivanova, Marieta G.; Nielson, Flemming; Probst, Christian W.

    2015-01-01

    Modern organisations are complex, socio-technical systems consisting of a mixture of physical infrastructure, human actors, policies and processes. An in- creasing number of attacks on these organisations exploits vulnerabilities on all different levels, for example combining a malware attack with

  4. Systems Analyses of Advanced Brayton Cycles

    Energy Technology Data Exchange (ETDEWEB)

    A.D. Rao; D.J. Francuz; J.D. Maclay; J. Brouwer; A. Verma; M. Li; G.S. Samuelsen

    2008-09-30

    The main objective is to identify and assess advanced improvements to the Brayton Cycle (such as but not limited to firing temperature, pressure ratio, combustion techniques, intercooling, fuel or combustion air augmentation, enhanced blade cooling schemes) that will lead to significant performance improvements in coal based power systems. This assessment is conducted in the context of conceptual design studies (systems studies) that advance state-of-art Brayton cycles and result in coal based efficiencies equivalent to 65% + on natural gas basis (LHV), or approximately an 8% reduction in heat rate of an IGCC plant utilizing the H class steam cooled gas turbine. H class gas turbines are commercially offered by General Electric and Mitsubishi for natural gas based combined cycle applications with 60% efficiency (LHV) and it is expected that such machine will be offered for syngas applications within the next 10 years. The studies are being sufficiently detailed so that third parties will be able to validate portions or all of the studies. The designs and system studies are based on plants for near zero emissions (including CO{sub 2}). Also included in this program is the performance evaluation of other advanced technologies such as advanced compression concepts and the fuel cell based combined cycle. The objective of the fuel cell based combined cycle task is to identify the desired performance characteristics and design basis for a gas turbine that will be integrated with an SOFC in Integrated Gasification Fuel Cell (IGFC) applications. The goal is the conceptualization of near zero emission (including CO{sub 2} capture) integrated gasification power plants producing electricity as the principle product. The capability of such plants to coproduce H{sub 2} is qualitatively addressed. Since a total systems solution is critical to establishing a plant configuration worthy of a comprehensive market interest, a baseline IGCC plant scheme is developed and used to study

  5. Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses.

    Science.gov (United States)

    Bertram, Lars; Tanzi, Rudolph E

    2008-10-01

    The genetic underpinnings of Alzheimer's disease (AD) remain largely elusive despite early successes in identifying three genes that cause early-onset familial AD (those that encode amyloid precursor protein (APP) and the presenilins (PSEN1 and PSEN2)), and one genetic risk factor for late-onset AD (the gene that encodes apolipoprotein E (APOE)). A large number of studies that aimed to help uncover the remaining disease-related loci have been published in recent decades, collectively proposing or refuting the involvement of over 500 different gene candidates. Systematic meta-analyses of these studies currently highlight more than 20 loci that have modest but significant effects on AD risk. This Review discusses the putative pathogenetic roles and common biochemical pathways of some of the most genetically and biologically compelling of these potential AD risk factors.

  6. Clinical Perspectives of Genetic Analyses on Dyslipidemia and Coronary Artery Disease

    Science.gov (United States)

    Kawashiri, Masa-aki; Yamagishi, Masakazu

    2017-01-01

    We have learned that low-density lipoprotein (LDL) cholesterol is the cause of atherosclerosis from various aspects, including a single case with familial hypercholesterolemia, other cases with different types of Mendelian dyslipidemias, large-scale randomized controlled trials using LDL cholesterol lowering therapies, and Mendelian randomization studies using common as well as rare variants associated with LDL cholesterol levels. There is no doubt that determinations of genotypes in lipid-associated genes have contributed not only to the genetic diagnosis for Mendelian dyslipidemias but also to the discoveries of novel therapeutic targets. Furthermore, recent studies have shown that such genetic information could provide useful clues for the risk prediction as well as risk stratification in general and in particular population. We provide the current understanding of genetic analyses relating to plasma lipids and coronary artery disease. PMID:28250266

  7. The Autism Simplex Collection : an international, expertly phenotyped autism sample for genetic and phenotypic analyses

    OpenAIRE

    Buxbaum, Joseph D.; Bolshakova, Nadia; Brownfeld, Jessica M.; Anney, Richard J. L.; Bender, Patrick; Bernier, Raphael; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Freitag, Christine M.; Hallmayer, Joachim; Geschwind, Daniel H.; Klauck, Sabine M.; Nurnberger, John I.; Oliveira, Guiomar

    2014-01-01

    Background: There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. Methods: In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year program to collect samples for genetic and phenotypic research and begin analyses on these samples. The program was called The Autism Simplex Collection (TASC). TASC sample collection ...

  8. [Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

    Science.gov (United States)

    Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

    2015-08-03

    Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.

  9. System evaluations by means of reliability analyses

    International Nuclear Information System (INIS)

    Breiling, G.

    1976-01-01

    The objective of this study is to show which analysis requirements are associated with the claim that a reliability analysis, as practised at present, can provide a quantitative risk assessment in absolute terms. The question arises of whether this claim can be substantiated without direct access to the specialist technical departments of a manufacturer and to the multifarious detail information available in these departments. The individual problems arising in the course of such an analysis are discussed on the example of a reliability analysis of a core flooding system. The questions discussed relate to analysis organisation, sequence analysis, fault-tree analysis, and the treatment of operational processes superimposed on the failure and repair processes. (orig.) [de

  10. Molecular responses of genetically modified maize to abiotic stresses as determined through proteomic and metabolomic analyses.

    Directory of Open Access Journals (Sweden)

    Rafael Fonseca Benevenuto

    Full Text Available Some genetically modified (GM plants have transgenes that confer tolerance to abiotic stressors. Meanwhile, other transgenes may interact with abiotic stressors, causing pleiotropic effects that will affect the plant physiology. Thus, physiological alteration might have an impact on the product safety. However, routine risk assessment (RA analyses do not evaluate the response of GM plants exposed to different environmental conditions. Therefore, we here present a proteome profile of herbicide-tolerant maize, including the levels of phytohormones and related compounds, compared to its near-isogenic non-GM variety under drought and herbicide stresses. Twenty differentially abundant proteins were detected between GM and non-GM hybrids under different water deficiency conditions and herbicide sprays. Pathway enrichment analysis showed that most of these proteins are assigned to energetic/carbohydrate metabolic processes. Among phytohormones and related compounds, different levels of ABA, CA, JA, MeJA and SA were detected in the maize varieties and stress conditions analysed. In pathway and proteome analyses, environment was found to be the major source of variation followed by the genetic transformation factor. Nonetheless, differences were detected in the levels of JA, MeJA and CA and in the abundance of 11 proteins when comparing the GM plant and its non-GM near-isogenic variety under the same environmental conditions. Thus, these findings do support molecular studies in GM plants Risk Assessment analyses.

  11. Evolution of genetic systems in filamentous ascomycetes

    NARCIS (Netherlands)

    Nauta, M.J.

    1994-01-01

    A great variety of genetic systems exist in filamentous ascomycetes. The transmission of genetic material does not only occur by (sexual or asexual) reproduction, but it can also follow vegetative fusion of different strains. In this thesis the evolution of this variability is studied,

  12. Mitochondrial DNA analyses reveal low genetic diversity in Culex quinquefasciatus from residential areas in Malaysia.

    Science.gov (United States)

    Low, V L; Lim, P E; Chen, C D; Lim, Y A L; Tan, T K; Norma-Rashid, Y; Lee, H L; Sofian-Azirun, M

    2014-06-01

    The present study explored the intraspecific genetic diversity, dispersal patterns and phylogeographic relationships of Culex quinquefasciatus Say (Diptera: Culicidae) in Malaysia using reference data available in GenBank in order to reveal this species' phylogenetic relationships. A statistical parsimony network of 70 taxa aligned as 624 characters of the cytochrome c oxidase subunit I (COI) gene and 685 characters of the cytochrome c oxidase subunit II (COII) gene revealed three haplotypes (A1-A3) and four haplotypes (B1-B4), respectively. The concatenated sequences of both COI and COII genes with a total of 1309 characters revealed seven haplotypes (AB1-AB7). Analysis using tcs indicated that haplotype AB1 was the common ancestor and the most widespread haplotype in Malaysia. The genetic distance based on concatenated sequences of both COI and COII genes ranged from 0.00076 to 0.00229. Sequence alignment of Cx. quinquefasciatus from Malaysia and other countries revealed four haplotypes (AA1-AA4) by the COI gene and nine haplotypes (BB1-BB9) by the COII gene. Phylogenetic analyses demonstrated that Malaysian Cx. quinquefasciatus share the same genetic lineage as East African and Asian Cx. quinquefasciatus. This study has inferred the genetic lineages, dispersal patterns and hypothetical ancestral genotypes of Cx. quinquefasciatus. © 2013 The Royal Entomological Society.

  13. Detection of Genetic Relationship in the Tree of Life of Some Quail Through Molecular Markers Analyses

    Directory of Open Access Journals (Sweden)

    Lamiaa Elsayed Mokhtar Deef

    2017-08-01

    Full Text Available ABSTRACT Quail is an important and interesting group of galliform birds. The Common quail (Coturnix coturnix; the Japanese quail (Coturnix japonica; the Panda quail (Coturnix japonica; the Dotted white quail (Coturnix japonica and the Bobwhite quail (Colinus virginianus were used in this study. PCR-RFLP and SDS-proteins were performed to reveal the genetic characterization and genetic relationship of the studied quails. Analysis of fragments generated by digestion of PCR product with restriction enzyme NlaIII recorded highly polymorphic restriction profiles. There is a wide intraspecific COI, SEMA3E and TLX genes variability among the studied quails. Protein bands varied from10 to 18 between quails with minimum number of bands were in the Dotted white quail (10 bands and the maximum were in the Japanese quail (18 bands as measured by SDS-polyacrylamide gel electrophoresis. The Dotted white quail revealed the lowest similarity to the Bobwhite with a coefficient of 0.18 while The similarity coefficients between the Common quail and each one of the other quails were 0.67, 0.62, 0.45 and 0.42 for the Japanese, Panda, Dotted white and the Bobwhite quails, respectively. The results indicate that, PCR-RFLP and protein analyses are good techniques to evaluate genetic characterization and genetic relationship of these quails.

  14. Chemometrical characterization of four italian rice varieties based on genetic and chemical analyses.

    Science.gov (United States)

    Brandolini, Vincenzo; Coïsson, Jean Daniel; Tedeschi, Paola; Barile, Daniela; Cereti, Elisabetta; Maietti, Annalisa; Vecchiati, Giorgio; Martelli, Aldo; Arlorio, Marco

    2006-12-27

    This paper describes a method for achieving qualitative identification of four rice varieties from two different Italian regions. To estimate the presence of genetic diversity among the four rice varieties, we used polymerase chain reaction-randomly amplified polymorphic DNA (PCR-RAPD) markers, and to elucidate whether a relationship exists between the ground and the specific characteristics of the product, we studied proximate composition, fatty acid composition, mineral content, and total antioxidant capacity. Using principal component analysis on genomic and compositional data, we were able to classify rice samples according to their variety and their district of production. This work also examined the discrimination ability of different parameters. It was found that genomic data give the best discrimination based on varieties, indicating that RAPD assays could be useful in discriminating among closely related species, while compositional analyses do not depend on the genetic characters only but are related to the production area.

  15. Complete genome of a European hepatitis C virus subtype 1g isolate: phylogenetic and genetic analyses.

    Science.gov (United States)

    Bracho, Maria A; Saludes, Verónica; Martró, Elisa; Bargalló, Ana; González-Candelas, Fernando; Ausina, Vicent

    2008-06-05

    Hepatitis C virus isolates have been classified into six main genotypes and a variable number of subtypes within each genotype, mainly based on phylogenetic analysis. Analyses of the genetic relationship among genotypes and subtypes are more reliable when complete genome sequences (or at least the full coding region) are used; however, so far 31 of 80 confirmed or proposed subtypes have at least one complete genome available. Of these, 20 correspond to confirmed subtypes of epidemic interest. We present and analyse the first complete genome sequence of a HCV subtype 1g isolate. Phylogenetic and genetic distance analyses reveal that HCV-1g is the most divergent subtype among the HCV-1 confirmed subtypes. Potential genomic recombination events between genotypes or subtype 1 genomes were ruled out. We demonstrate phylogenetic congruence of previously deposited partial sequences of HCV-1g with respect to our sequence. In light of this, we propose changing the current status of its subtype-specific designation from provisional to confirmed.

  16. Complete genome of a European hepatitis C virus subtype 1g isolate: phylogenetic and genetic analyses

    Directory of Open Access Journals (Sweden)

    Bargalló Ana

    2008-06-01

    Full Text Available Abstract Background Hepatitis C virus isolates have been classified into six main genotypes and a variable number of subtypes within each genotype, mainly based on phylogenetic analysis. Analyses of the genetic relationship among genotypes and subtypes are more reliable when complete genome sequences (or at least the full coding region are used; however, so far 31 of 80 confirmed or proposed subtypes have at least one complete genome available. Of these, 20 correspond to confirmed subtypes of epidemic interest. Results We present and analyse the first complete genome sequence of a HCV subtype 1g isolate. Phylogenetic and genetic distance analyses reveal that HCV-1g is the most divergent subtype among the HCV-1 confirmed subtypes. Potential genomic recombination events between genotypes or subtype 1 genomes were ruled out. We demonstrate phylogenetic congruence of previously deposited partial sequences of HCV-1g with respect to our sequence. Conclusion In light of this, we propose changing the current status of its subtype-specific designation from provisional to confirmed.

  17. Electron Microscopic, Genetic and Protein Expression Analyses of Helicobacter acinonychis Strains from a Bengal Tiger

    Science.gov (United States)

    Tegtmeyer, Nicole; Rivas Traverso, Francisco; Rohde, Manfred; Oyarzabal, Omar A.; Lehn, Norbert; Schneider-Brachert, Wulf; Ferrero, Richard L.; Fox, James G.; Berg, Douglas E.; Backert, Steffen

    2013-01-01

    Colonization by Helicobacter species is commonly noted in many mammals. These infections often remain unrecognized, but can cause severe health complications or more subtle host immune perturbations. The aim of this study was to isolate and characterize putative novel Helicobacter spp. from Bengal tigers in Thailand. Morphological investigation (Gram-staining and electron microscopy) and genetic studies (16SrRNA, 23SrRNA, flagellin, urease and prophage gene analyses, RAPD DNA fingerprinting and restriction fragment polymorphisms) as well as Western blotting were used to characterize the isolated Helicobacters. Electron microscopy revealed spiral-shaped bacteria, which varied in length (2.5–6 µm) and contained up to four monopolar sheathed flagella. The 16SrRNA, 23SrRNA, sequencing and protein expression analyses identified novel H. acinonychis isolates closely related to H. pylori. These Asian isolates are genetically very similar to H. acinonychis strains of other big cats (cheetahs, lions, lion-tiger hybrid and other tigers) from North America and Europe, which is remarkable in the context of the great genetic diversity among worldwide H. pylori strains. We also found by immunoblotting that the Bengal tiger isolates express UreaseA/B, flagellin, BabA adhesin, neutrophil-activating protein NapA, HtrA protease, γ-glutamyl-transpeptidase GGT, Slt lytic transglycosylase and two DNA transfer relaxase orthologs that were known from H. pylori, but not the cag pathogenicity island, nor CagA, VacA, SabA, DupA or OipA proteins. These results give fresh insights into H. acinonychis genetics and the expression of potential pathogenicity-associated factors and their possible pathophysiological relevance in related gastric infections. PMID:23940723

  18. Electron microscopic, genetic and protein expression analyses of Helicobacter acinonychis strains from a Bengal tiger.

    Directory of Open Access Journals (Sweden)

    Nicole Tegtmeyer

    Full Text Available Colonization by Helicobacter species is commonly noted in many mammals. These infections often remain unrecognized, but can cause severe health complications or more subtle host immune perturbations. The aim of this study was to isolate and characterize putative novel Helicobacter spp. from Bengal tigers in Thailand. Morphological investigation (Gram-staining and electron microscopy and genetic studies (16SrRNA, 23SrRNA, flagellin, urease and prophage gene analyses, RAPD DNA fingerprinting and restriction fragment polymorphisms as well as Western blotting were used to characterize the isolated Helicobacters. Electron microscopy revealed spiral-shaped bacteria, which varied in length (2.5-6 µm and contained up to four monopolar sheathed flagella. The 16SrRNA, 23SrRNA, sequencing and protein expression analyses identified novel H. acinonychis isolates closely related to H. pylori. These Asian isolates are genetically very similar to H. acinonychis strains of other big cats (cheetahs, lions, lion-tiger hybrid and other tigers from North America and Europe, which is remarkable in the context of the great genetic diversity among worldwide H. pylori strains. We also found by immunoblotting that the Bengal tiger isolates express UreaseA/B, flagellin, BabA adhesin, neutrophil-activating protein NapA, HtrA protease, γ-glutamyl-transpeptidase GGT, Slt lytic transglycosylase and two DNA transfer relaxase orthologs that were known from H. pylori, but not the cag pathogenicity island, nor CagA, VacA, SabA, DupA or OipA proteins. These results give fresh insights into H. acinonychis genetics and the expression of potential pathogenicity-associated factors and their possible pathophysiological relevance in related gastric infections.

  19. Electron microscopic, genetic and protein expression analyses of Helicobacter acinonychis strains from a Bengal tiger.

    Science.gov (United States)

    Tegtmeyer, Nicole; Rivas Traverso, Francisco; Rohde, Manfred; Oyarzabal, Omar A; Lehn, Norbert; Schneider-Brachert, Wulf; Ferrero, Richard L; Fox, James G; Berg, Douglas E; Backert, Steffen

    2013-01-01

    Colonization by Helicobacter species is commonly noted in many mammals. These infections often remain unrecognized, but can cause severe health complications or more subtle host immune perturbations. The aim of this study was to isolate and characterize putative novel Helicobacter spp. from Bengal tigers in Thailand. Morphological investigation (Gram-staining and electron microscopy) and genetic studies (16SrRNA, 23SrRNA, flagellin, urease and prophage gene analyses, RAPD DNA fingerprinting and restriction fragment polymorphisms) as well as Western blotting were used to characterize the isolated Helicobacters. Electron microscopy revealed spiral-shaped bacteria, which varied in length (2.5-6 µm) and contained up to four monopolar sheathed flagella. The 16SrRNA, 23SrRNA, sequencing and protein expression analyses identified novel H. acinonychis isolates closely related to H. pylori. These Asian isolates are genetically very similar to H. acinonychis strains of other big cats (cheetahs, lions, lion-tiger hybrid and other tigers) from North America and Europe, which is remarkable in the context of the great genetic diversity among worldwide H. pylori strains. We also found by immunoblotting that the Bengal tiger isolates express UreaseA/B, flagellin, BabA adhesin, neutrophil-activating protein NapA, HtrA protease, γ-glutamyl-transpeptidase GGT, Slt lytic transglycosylase and two DNA transfer relaxase orthologs that were known from H. pylori, but not the cag pathogenicity island, nor CagA, VacA, SabA, DupA or OipA proteins. These results give fresh insights into H. acinonychis genetics and the expression of potential pathogenicity-associated factors and their possible pathophysiological relevance in related gastric infections.

  20. Genetic analyses of partial egg production in Japanese quail using multi-trait random regression models.

    Science.gov (United States)

    Karami, K; Zerehdaran, S; Barzanooni, B; Lotfi, E

    2017-12-01

    1. The aim of the present study was to estimate genetic parameters for average egg weight (EW) and egg number (EN) at different ages in Japanese quail using multi-trait random regression (MTRR) models. 2. A total of 8534 records from 900 quail, hatched between 2014 and 2015, were used in the study. Average weekly egg weights and egg numbers were measured from second until sixth week of egg production. 3. Nine random regression models were compared to identify the best order of the Legendre polynomials (LP). The most optimal model was identified by the Bayesian Information Criterion. A model with second order of LP for fixed effects, second order of LP for additive genetic effects and third order of LP for permanent environmental effects (MTRR23) was found to be the best. 4. According to the MTRR23 model, direct heritability for EW increased from 0.26 in the second week to 0.53 in the sixth week of egg production, whereas the ratio of permanent environment to phenotypic variance decreased from 0.48 to 0.1. Direct heritability for EN was low, whereas the ratio of permanent environment to phenotypic variance decreased from 0.57 to 0.15 during the production period. 5. For each trait, estimated genetic correlations among weeks of egg production were high (from 0.85 to 0.98). Genetic correlations between EW and EN were low and negative for the first two weeks, but they were low and positive for the rest of the egg production period. 6. In conclusion, random regression models can be used effectively for analysing egg production traits in Japanese quail. Response to selection for increased egg weight would be higher at older ages because of its higher heritability and such a breeding program would have no negative genetic impact on egg production.

  1. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

    Science.gov (United States)

    Zoledziewska, Magdalena; Mulas, Antonella; Pistis, Giorgio; Steri, Maristella; Danjou, Fabrice; Kwong, Alan; Ortega del Vecchyo, Vicente Diego; Chiang, Charleston W. K.; Bragg-Gresham, Jennifer; Pitzalis, Maristella; Nagaraja, Ramaiah; Tarrier, Brendan; Brennan, Christine; Uzzau, Sergio; Fuchsberger, Christian; Atzeni, Rossano; Reinier, Frederic; Berutti, Riccardo; Huang, Jie; Timpson, Nicholas J; Toniolo, Daniela; Gasparini, Paolo; Malerba, Giovanni; Dedoussis, George; Zeggini, Eleftheria; Soranzo, Nicole; Jones, Chris; Lyons, Robert; Angius, Andrea; Kang, Hyun M.; Novembre, John; Sanna, Serena; Schlessinger, David; Cucca, Francesco; Abecasis, Gonçalo R

    2015-01-01

    We report ~17.6M genetic variants from whole-genome sequencing of 2,120 Sardinians; 22% are absent from prior sequencing-based compilations and enriched for predicted functional consequence. Furthermore, ~76K variants common in our sample (frequency >5%) are rare elsewhere (Genomes Project). We assessed the impact of these variants on circulating lipid levels and five inflammatory biomarkers. Fourteen signals, including two major new loci, were observed for lipid levels, and 19, including two novel loci, for inflammatory markers. New associations would be missed in analyses based on 1000 Genomes data, underlining the advantages of large-scale sequencing in this founder population. PMID:26366554

  2. Genetics Home Reference: systemic scleroderma

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Systemic scleroderma Systemic scleroderma Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Systemic scleroderma is an autoimmune disorder that affects the skin ...

  3. Genetic analyses of linear profiling data on 3-year-old Swedish Warmblood horses.

    Science.gov (United States)

    Viklund, Å; Eriksson, S

    2018-02-01

    A linear profiling protocol was introduced in 2013 at tests for 3-year-old Swedish Warmblood horses. In this protocol, traits are subjectively described on a nine-point linear scale from one biological extreme to the other. This complements the traditional scoring where horses are evaluated in relation to the breeding objective. This study aimed to investigate the suitability of the linear information for genetic evaluation. Data on 22 conformation traits, 17 movement traits, 14 jumping traits and one temperament trait from 3,410 horses tested between 2013 and 2016 were analysed using an animal model. For conformation traits, the heritabilities ranged from 0.10 for description of hock joint from behind to 0.52 for shape of the neck. For movement traits, the highest heritability (0.54) was estimated for elasticity in trot and the lowest (0.08) for energy in walk. The heritabilities for jumping traits ranged from 0.05 for the ability to focus on the assignment to 0.57 for scope. Genetic correlations between linear traits and corresponding traditionally scored traits were strong (-0.37 to in many cases <-0.9). The results show that the linear information is suitable for genetic evaluation and can be a useful tool for breeders. © 2018 Blackwell Verlag GmbH.

  4. Mitochondrial DNA analyses revealed low genetic diversity in the endangered Indian wild ass Equus hemionus khur.

    Science.gov (United States)

    Khaire, Devendra; Atkulwar, Ashwin; Farah, Sameera; Baig, Mumtaz

    2017-09-01

    The Indian wild ass Equus hemionus khur, belonging to ass-like equid branch, inhabits the dry and arid desert of the Little Rann of Kutch, Gujarat. The E. h. khur is the sole survivor of Asiatic wild ass species/subspecies in South Asia. To provide first ever insights into the genetic diversity, phylogeny, and demography of the endangered Indian wild ass, we sampled 52 free-ranging individuals from the Little Rann of Kutch by using a non-invasive methodology. The sequencing of 230 bp in cytochrome b (Cyt b) and displacement loop (D-loop) region revealed that current ∼4000 extant population of Indian wild ass harbours low genetic diversity. Phylogenetic analyses confirmed that E. h. khur, E. h. onager, and E. h. kulan belong to a single strict monophyletic clade. Therefore, we suggest the delimitation of the five E. hemionus subspecies in vogue to a single species E. hemionus. The application of molecular clock confirmed that the Asiatic wild ass had undergone diversification 0.65 Million years ago. Demographic measurements assessed using a Bayesian skyline plot demonstrated decline in the maternal effective population size of the Indian wild ass during different periods; these periods coincided with the origin and rise of the Indus civilization in the northwest of the Indian subcontinent during the Neolithic. In conclusion, maintaining high genetic diversity in the existing isolated population of 4000 Indian wild asses inhabiting the wild ass sanctuary is important compared with subspecies preservation alone.

  5. Will an "island" population of voles be recolonized if eradicated? Insights from molecular genetic analyses

    Science.gov (United States)

    Miller, Mark P.; Haig, Susan M.; Ledig, David B.; Vander Heyden, Madeleine F.; Bennett, Gregory

    2011-01-01

    We performed genetic analyses of Microtus longicaudus populations within the Crook Point Unit of the Oregon Islands National Wildlife Refuge. A M. longicaudus population at Saddle Rock (located approx. 65 m off-shore from the Crook Point mainland) is suspected to be partially responsible for declines of a Leach's storm-petrel colony at this important nesting site. Using Amplified Fragment Length Polymorphism markers and mitochondrial DNA, we illustrate that Saddle Rock and Crook Point function as separate island and mainland populations despite their close proximity. In addition to genetic structure, we also observed reduced genetic diversity at Saddle Rock, suggesting that little individual movement occurs between populations. If local resource managers decide to perform an eradication at Saddle Rock, we conclude that immediate recolonization of the island by M. longicaudus would be unlikely. Because M. longicaudus is native to Oregon, we also consider the degree with which the differentiation of Saddle Rock signifies the presence of a unique entity that warrants conservation rather than eradication. ?? The Wildlife Society, 2011.

  6. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

    Directory of Open Access Journals (Sweden)

    Christina M Lill

    Full Text Available More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson's disease (PD. To facilitate the interpretation of these findings, we have created a dedicated online resource, PDGene, that comprehensively collects and meta-analyzes all published studies in the field. A systematic literature screen of -27,000 articles yielded 828 eligible articles from which relevant data were extracted. In addition, individual-level data from three publicly available genome-wide association studies (GWAS were obtained and subjected to genotype imputation and analysis. Overall, we performed meta-analyses on more than seven million polymorphisms originating either from GWAS datasets and/or from smaller scale PD association studies. Meta-analyses on 147 SNPs were supplemented by unpublished GWAS data from up to 16,452 PD cases and 48,810 controls. Eleven loci showed genome-wide significant (P < 5 × 10(-8 association with disease risk: BST1, CCDC62/HIP1R, DGKQ/GAK, GBA, LRRK2, MAPT, MCCC1/LAMP3, PARK16, SNCA, STK39, and SYT11/RAB25. In addition, we identified novel evidence for genome-wide significant association with a polymorphism in ITGA8 (rs7077361, OR 0.88, P  =  1.3 × 10(-8. All meta-analysis results are freely available on a dedicated online database (www.pdgene.org, which is cross-linked with a customized track on the UCSC Genome Browser. Our study provides an exhaustive and up-to-date summary of the status of PD genetics research that can be readily scaled to include the results of future large-scale genetics projects, including next-generation sequencing studies.

  7. Testing Genetic Pleiotropy with GWAS Summary Statistics for Marginal and Conditional Analyses.

    Science.gov (United States)

    Deng, Yangqing; Pan, Wei

    2017-12-01

    working independence model for robust inference. We provide numerical examples based on both simulated and real data, including two large lipid GWAS summary association datasets based on ∼100,000 and ∼189,000 samples, respectively, to demonstrate the difference between marginal and conditional analyses, as well as the effectiveness of our new approach. Copyright © 2017 by the Genetics Society of America.

  8. Intra-specific genetic relationship analyses of Elaeagnus angustifolia based on RP-HPLC biochemical markers

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Elaeagnus angustifolia Linn. has various ecological, medicinal and economical uses. An approach was established using RP-HPLC (reversed-phase high-performance liquid chromatography) to classify and analyse the intra-specific genetic relationships of seventeen populations of E. angustifolia, collected from the Xinjiang areas of China. Chromatograms of alcohol-soluble proteins produced by seventeen populations ofE. angustifolia, were compared. Each chromatogram of alcohol-soluble proteins came from a single seed of one wild plant only. The results showed that when using a Waters Delta Pak. C18, 5 μm particle size reversed phase column (150 mm×3.9 mm), a linear gradient of 25%~60% solvent B with flow rate of 1 ml/min and run time of 67 min, the chromatography yielded optimum separation ofE. angustifolia alcohol-soluble proteins. Representative peaks in each population were chosen according to peak area and occurrence in every seed. The converted data on the elution peaks of each population were different and could be used to represent those populations. GSC (genetic similarity coefficients) of 41% to 62% showed a medium degree of genetic diversity among the populations in these eco-areas. Cluster analysis showed that the seventeen populations ofE. angustifolia could be divided into six clusters at the GSC=0.535 level and indicated the general and unique biochemical markers of these clusters. We suggest that E. angustifolia distribution in these eco-areas could be classified into six variable species. RP-HPLC was shown to be a rapid, repeatable and reliable method for E. angustifolia classification and identification and for analysis of genetic diversity.

  9. Correlation and regression analyses of genetic effects for different types of cells in mammals under radiation and chemical treatment

    International Nuclear Information System (INIS)

    Slutskaya, N.G.; Mosseh, I.B.

    2006-01-01

    Data about genetic mutations under radiation and chemical treatment for different types of cells have been analyzed with correlation and regression analyses. Linear correlation between different genetic effects in sex cells and somatic cells have found. The results may be extrapolated on sex cells of human and mammals. (authors)

  10. Environmental analyses of land transportation systems in The Netherlands

    NARCIS (Netherlands)

    Bouwman, Mirjan E.; Moll, Henri C.

    Environmental analyses of the impact of transportation systems on the environment from the cradle to the grave are rare. This article makes a comparison of various Dutch passenger transportation systems by studying their complete life-cycle energy use. Moreover, systems are compared according to

  11. Analysing Information Systems Security In Higher Learning Institutions Of Uganda

    OpenAIRE

    Mugyenyi Raymond

    2017-01-01

    Information communication technology has increased globalisation in higher learning institution all over the world. This has been achieved through introduction of systems that ease operations related to information handling in the institutions. The paper assessed and analysed the information systems security performance status in higher learning institutions of Uganda. The existing policies that govern the information security have also been analysed together with the current status of inform...

  12. Molecular markers for analyses of intraspecific genetic diversity in the Asian Tiger mosquito, Aedes albopictus.

    Science.gov (United States)

    Manni, Mosè; Gomulski, Ludvik M; Aketarawong, Nidchaya; Tait, Gabriella; Scolari, Francesca; Somboon, Pradya; Guglielmino, Carmela R; Malacrida, Anna R; Gasperi, Giuliano

    2015-03-28

    The dramatic worldwide expansion of Aedes albopictus (the Asian tiger mosquito) and its vector competence for numerous arboviruses represent a growing threat to public health security. Molecular markers are crucially needed for tracking the rapid spread of this mosquito and to obtain a deeper knowledge of population structure. This is a fundamental requirement for the development of strict monitoring protocols and for the improvement of sustainable control measures. Wild population samples from putative source areas and from newly colonised regions were analysed for variability at the ribosomal DNA internal transcribed spacer 2 (ITS2). Moreover, a new set of 23 microsatellite markers (SSR) was developed. Sixteen of these SSRs were tested in an ancestral (Thailand) and two adventive Italian populations. Seventy-six ITS2 sequences representing 52 unique haplotypes were identified, and AMOVA indicated that most of their variation occurred within individuals (74.36%), while only about 8% was detected among populations. Spatial analyses of molecular variance revealed that haplotype genetic similarity was not related to the geographic proximity of populations and the haplotype phylogeny clearly indicated that highly related sequences were distributed across populations from different geographical regions. The SSR markers displayed a high level of polymorphism both in the ancestral and in adventive populations, and F ST estimates suggested the absence of great differentiation. The ancestral nature of the Thai population was corroborated by its higher level of variability. The two types of genetic markers here implemented revealed the distribution of genetic diversity within and between populations and provide clues on the dispersion dynamics of this species. It appears that the diffusion of this mosquito does not conform to a progressive expansion from the native Asian source area, but to a relatively recent and chaotic propagule distribution mediated by human activities

  13. Bayesian analyses of genetic parameters for growth traits in Nellore cattle raised on pasture.

    Science.gov (United States)

    Lopes, F B; Ferreira, J L; Lobo, R B; Rosa, G J M

    2017-07-06

    This study was carried out to investigate (co)variance components and genetic parameters for growth traits in beef cattle using a multi-trait model by Bayesian methods. Genetic and residual (co)variances and parameters were estimated for weights at standard ages of 120 (W120), 210 (W210), 365 (W365), and 450 days (W450), and for pre- and post-weaning daily weight gain (preWWG and postWWG) in Nellore cattle. Data were collected over 16 years (1993-2009), and all animals were raised on pasture in eight farms in the North of Brazil that participate in the National Association of Breeders and Researchers. Analyses were run by the Bayesian approach using Gibbs sampler. Additive direct heritabilities for W120, W210, W365, and W450 and for preWWG and postWWG were 0.28 ± 0.013, 0.32 ± 0.002, 0.31 ± 0.002, 0.50 ± 0.026, 0.61 ± 0.047, and 0.79 ± 0.055, respectively. The estimates of maternal heritability were 0.32 ± 0.012, 0.29 ± 0.004, 0.30 ± 0.005, 0.25 ± 0.015, 0.23 ± 0.017, and 0.22 ± 0.016, respectively, for W120, W210, W365, and W450 and for preWWG and postWWG. The estimates of genetic direct additive correlation among all traits were positive and ranged from 0.25 ± 0.03 (preWWG and postWWG) to 0.99 ± 0.00 (W210 and preWWG). The moderate to high estimates of heritability and genetic correlation for weights and daily weight gains at different ages is suggestive of genetic improvement in these traits by selection at an appropriate age. Maternal genetic effects seemed to be significant across the traits. When the focus is on direct and maternal effects, W210 seems to be a good criterium for the selection of Nellore cattle considering the importance of this breed as a major breed of beef cattle not only in Northern Brazil but all regions covered by tropical pastures. As in this study the genetic correlations among all traits were high, the selection based on weaning weight might be a good choice because at this age there are two important effects (maternal

  14. Systems reliability analyses and risk analyses for the licencing procedure under atomic law

    International Nuclear Information System (INIS)

    Berning, A.; Spindler, H.

    1983-01-01

    For the licencing procedure under atomic law in accordance with Article 7 AtG, the nuclear power plant as a whole needs to be assessed, plus the reliability of systems and plant components that are essential to safety are to be determined with probabilistic methods. This requirement is the consequence of safety criteria for nuclear power plants issued by the Home Department (BMI). Systems reliability studies and risk analyses used in licencing procedures under atomic law are identified. The stress is on licencing decisions, mainly for PWR-type reactors. Reactor Safety Commission (RSK) guidelines, examples of reasoning in legal proceedings and arguments put forth by objectors are also dealt with. Correlations are shown between reliability analyses made by experts and licencing decisions by means of examples. (orig./HP) [de

  15. Genetic Markers Analyses and Bioinformatic Approaches to Distinguish Between Olive Tree (Olea europaea L.) Cultivars.

    Science.gov (United States)

    Ben Ayed, Rayda; Ben Hassen, Hanen; Ennouri, Karim; Rebai, Ahmed

    2016-12-01

    The genetic diversity of 22 olive tree cultivars (Olea europaea L.) sampled from different Mediterranean countries was assessed using 5 SNP markers (FAD2.1; FAD2.3; CALC; SOD and ANTHO3) located in four different genes. The genotyping analysis of the 22 cultivars with 5 SNP loci revealed 11 alleles (average 2.2 per allele). The dendrogram based on cultivar genotypes revealed three clusters consistent with the cultivars classification. Besides, the results obtained with the five SNPs were compared to those obtained with the SSR markers using bioinformatic analyses and by computing a cophenetic correlation coefficient, indicating the usefulness of the UPGMA method for clustering plant genotypes. Based on principal coordinate analysis using a similarity matrix, the first two coordinates, revealed 54.94 % of the total variance. This work provides a more comprehensive explanation of the diversity available in Tunisia olive cultivars, and an important contribution for olive breeding and olive oil authenticity.

  16. Phylogeographic and population genetic analyses reveal multiple species of Boa and independent origins of insular dwarfism.

    Science.gov (United States)

    Card, Daren C; Schield, Drew R; Adams, Richard H; Corbin, Andrew B; Perry, Blair W; Andrew, Audra L; Pasquesi, Giulia I M; Smith, Eric N; Jezkova, Tereza; Boback, Scott M; Booth, Warren; Castoe, Todd A

    2016-09-01

    Boa is a Neotropical genus of snakes historically recognized as monotypic despite its expansive distribution. The distinct morphological traits and color patterns exhibited by these snakes, together with the wide diversity of ecosystems they inhabit, collectively suggest that the genus may represent multiple species. Morphological variation within Boa also includes instances of dwarfism observed in multiple offshore island populations. Despite this substantial diversity, the systematics of the genus Boa has received little attention until very recently. In this study we examined the genetic structure and phylogenetic relationships of Boa populations using mitochondrial sequences and genome-wide SNP data obtained from RADseq. We analyzed these data at multiple geographic scales using a combination of phylogenetic inference (including coalescent-based species delimitation) and population genetic analyses. We identified extensive population structure across the range of the genus Boa and multiple lines of evidence for three widely-distributed clades roughly corresponding with the three primary land masses of the Western Hemisphere. We also find both mitochondrial and nuclear support for independent origins and parallel evolution of dwarfism on offshore island clusters in Belize and Cayos Cochinos Menor, Honduras. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. A weighted U-statistic for genetic association analyses of sequencing data.

    Science.gov (United States)

    Wei, Changshuai; Li, Ming; He, Zihuai; Vsevolozhskaya, Olga; Schaid, Daniel J; Lu, Qing

    2014-12-01

    With advancements in next-generation sequencing technology, a massive amount of sequencing data is generated, which offers a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex diseases. Nevertheless, the high-dimensional sequencing data poses a great challenge for statistical analysis. The association analyses based on traditional statistical methods suffer substantial power loss because of the low frequency of genetic variants and the extremely high dimensionality of the data. We developed a Weighted U Sequencing test, referred to as WU-SEQ, for the high-dimensional association analysis of sequencing data. Based on a nonparametric U-statistic, WU-SEQ makes no assumption of the underlying disease model and phenotype distribution, and can be applied to a variety of phenotypes. Through simulation studies and an empirical study, we showed that WU-SEQ outperformed a commonly used sequence kernel association test (SKAT) method when the underlying assumptions were violated (e.g., the phenotype followed a heavy-tailed distribution). Even when the assumptions were satisfied, WU-SEQ still attained comparable performance to SKAT. Finally, we applied WU-SEQ to sequencing data from the Dallas Heart Study (DHS), and detected an association between ANGPTL 4 and very low density lipoprotein cholesterol. © 2014 WILEY PERIODICALS, INC.

  18. A Calculus for Modelling, Simulating and Analysing Compartmentalized Biological Systems

    DEFF Research Database (Denmark)

    Mardare, Radu Iulian; Ihekwaba, Adoha

    2007-01-01

    A. Ihekwaba, R. Mardare. A Calculus for Modelling, Simulating and Analysing Compartmentalized Biological Systems. Case study: NFkB system. In Proc. of International Conference of Computational Methods in Sciences and Engineering (ICCMSE), American Institute of Physics, AIP Proceedings, N 2...

  19. Safety analyses of the electrical systems on VVER NPP

    International Nuclear Information System (INIS)

    Andel, J.

    2004-01-01

    Energoprojekt Praha has been the main entity responsible for the section on 'Electrical Systems' in the safety reports of the Temelin, Dukovany and Mochovce nuclear power plants. The section comprises 2 main chapters, viz. Offsite Power System (issues of electrical energy production in main generators and the link to the offsite transmission grid) and Onsite Power Systems (AC and DC auxiliary system, both normal and safety related). In the chapter on the off-site system, attention is paid to the analysis of transmission capacity of the 400 kV lines, analysis of transient stability, multiple fault analyses, and probabilistic analyses of the grid and NPP power system reliability. In the chapter on the on-site system, attention is paid to the power balances of the electrical sources and switchboards set for various operational and accident modes, checks of loading and function of service and backup sources, short circuit current calculations, analyses of electrical protections, and analyses of the function and sizing of emergency sources (DG sets and UPS systems). (P.A.)

  20. Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases

    Directory of Open Access Journals (Sweden)

    Liang He

    2016-10-01

    Full Text Available Age-related diseases may result from shared biological mechanisms in intrinsic processes of aging. Genetic effects on age-related diseases are often modulated by environmental factors due to their little contribution to fitness or are mediated through certain endophenotypes. Identification of genetic variants with pleiotropic effects on both common complex diseases and endophenotypes may reveal potential conflicting evolutionary pressures and deliver new insights into shared genetic contribution to healthspan and lifespan. Here, we performed pleiotropic meta-analyses of genetic variants using five NIH-funded datasets by integrating univariate summary statistics for age-related diseases and endophenotypes. We investigated three groups of traits: (1 endophenotypes such as blood glucose, blood pressure, lipids, hematocrit, and body mass index, (2 time-to-event outcomes such as the age-at-onset of diabetes mellitus (DM, cancer, cardiovascular diseases (CVDs and neurodegenerative diseases (NDs, and (3 both combined. In addition to replicating previous findings, we identify seven novel genome-wide significant loci (< 5e-08, out of which five are low-frequency variants. Specifically, from Group 2, we find rs7632505 on 3q21.1 in SEMA5B, rs460976 on 21q22.3 (1 kb from TMPRSS2 and rs12420422 on 11q24.1 predominantly associated with a variety of CVDs, rs4905014 in ITPK1 associated with stroke and heart failure, rs7081476 on 10p12.1 in ANKRD26 associated with multiple diseases including DM, CVDs, and NDs. From Group 3, we find rs8082812 on 18p11.22 and rs1869717 on 4q31.3 associated with both endophenotypes and CVDs. Our follow-up analyses show that rs7632505, rs4905014, and rs8082812 have age-dependent effects on coronary heart disease or stroke. Functional annotation suggests that most of these SNPs are within regulatory regions or DNase clusters and in linkage disequilibrium with expression quantitative trait loci, implying their potential regulatory

  1. Molecular genetic analyses of 300-year old skeletons from Auersperg tomb

    Directory of Open Access Journals (Sweden)

    Irena Zupanič Pajnič

    2014-01-01

    Full Text Available Background: In 2009 the archaeologists excavated five skeletons from a 17th-century archaeological site in Ljubljana. They were found in the side chapel of the church in the Franciscans monastery, which was the Auerspergs’ tomb. Beside the skeletons, the finds revealed a bronze bowl with the heart , and the name of Ferdinand II and the years of birth and death (1655–1706 engraved. In 2011, we were asked to identify those five skeletons. The skeletons were poorly preserved and bones degraded to small pieces. Fragments of femurs and teeth were preserved only in two skeletons, therefore for the remaining three the fragments of cranium were used for molecular genetic analyses.Methods: We cleaned the bones and teeth, removed surface contamination, and ground them into powder. Prior to DNA isolation, bone or tooth powder was decalcified. DNA was purified in the Biorobot EZ1 device (Qiagen. Nuclear DNA of the samples was quantified using real-time polymerase chain reaction (PCR. Short tandem repeat (STR typing of autosomal DNA was performed using Investigator ESSplex Kit (Qiagen, the NGM Kit (Applied Biosystems and the MiniFiler Kit (Applied Biosystems. Typing of the Y-STRs was performed using the YFiler Kit (Applied Biosystems. The two hypervariable regions HVI and HVII of the mtDNA were sequenced.Results: We were able to extract up to 10.7 ng DNA/g of tooth powder from Auersperg chapel archaeological site skeletal remains. We managed to obtain nuclear DNA for successful STR typing from skeletal remains that were over 300 years old. From one skeleton we obtained a complete male genetic profile of autosomal DNA, almost complete Y-STR haplotype, which enabled us to track the paternal line and mtDNA haplotype for HVI and HVII regions, which enabled us to track the maternal line. After comparing the profiles with elimination database, no match was found, and thus the authenticity of genetic profiles was confirmed.Conclusions: Now we are waiting for

  2. Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

    Science.gov (United States)

    Derringer, Jaime; Gratten, Jacob; Lee, James J; Liu, Jimmy Z; de Vlaming, Ronald; Ahluwalia, Tarunveer S; Buchwald, Jadwiga; Cavadino, Alana; Frazier-Wood, Alexis C; Davies, Gail; Furlotte, Nicholas A; Garfield, Victoria; Geisel, Marie Henrike; Gonzalez, Juan R; Haitjema, Saskia; Karlsson, Robert; van der Laan, Sander W; Ladwig, Karl-Heinz; Lahti, Jari; van der Lee, Sven J; Miller, Michael B; Lind, Penelope A; Liu, Tian; Matteson, Lindsay; Mihailov, Evelin; Minica, Camelia C; Nolte, Ilja M; Mook-Kanamori, Dennis O; van der Most, Peter J; Oldmeadow, Christopher; Qian, Yong; Raitakari, Olli; Rawal, Rajesh; Realo, Anu; Rueedi, Rico; Schmidt, Börge; Smith, Albert V; Stergiakouli, Evie; Tanaka, Toshiko; Taylor, Kent; Thorleifsson, Gudmar; Wedenoja, Juho; Wellmann, Juergen; Westra, Harm-Jan; Willems, Sara M; Zhao, Wei; Amin, Najaf; Bakshi, Andrew; Bergmann, Sven; Bjornsdottir, Gyda; Boyle, Patricia A; Cherney, Samantha; Cox, Simon R; Davis, Oliver S P; Ding, Jun; Direk, Nese; Eibich, Peter; Emeny, Rebecca T; Fatemifar, Ghazaleh; Faul, Jessica D; Ferrucci, Luigi; Forstner, Andreas J; Gieger, Christian; Gupta, Richa; Harris, Tamara B; Harris, Juliette M; Holliday, Elizabeth G; Hottenga, Jouke-Jan; De Jager, Philip L; Kaakinen, Marika A; Kajantie, Eero; Karhunen, Ville; Kolcic, Ivana; Kumari, Meena; Launer, Lenore J; Franke, Lude; Li-Gao, Ruifang; Liewald, David C; Koini, Marisa; Loukola, Anu; Marques-Vidal, Pedro; Montgomery, Grant W; Mosing, Miriam A; Paternoster, Lavinia; Pattie, Alison; Petrovic, Katja E; Pulkki-Råback, Laura; Quaye, Lydia; Räikkönen, Katri; Rudan, Igor; Scott, Rodney J; Smith, Jennifer A; Sutin, Angelina R; Trzaskowski, Maciej; Vinkhuyzen, Anna E; Yu, Lei; Zabaneh, Delilah; Attia, John R; Bennett, David A; Berger, Klaus; Bertram, Lars; Boomsma, Dorret I; Snieder, Harold; Chang, Shun-Chiao; Cucca, Francesco; Deary, Ian J; van Duijn, Cornelia M; Eriksson, Johan G; Bültmann, Ute; de Geus, Eco J C; Groenen, Patrick J F; Gudnason, Vilmundur; Hansen, Torben; Hartman, Catharine A; Haworth, Claire M A; Hayward, Caroline; Heath, Andrew C; Hinds, David A; Hyppönen, Elina; Iacono, William G; Järvelin, Marjo-Riitta; Jöckel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L R; Keltikangas-Järvinen, Liisa; Kraft, Peter; Kubzansky, Laura D; Lehtimäki, Terho; Magnusson, Patrik K E; Martin, Nicholas G; McGue, Matt; Metspalu, Andres; Mills, Melinda; de Mutsert, Renée; Oldehinkel, Albertine J; Pasterkamp, Gerard; Pedersen, Nancy L; Plomin, Robert; Polasek, Ozren; Power, Christine; Rich, Stephen S; Rosendaal, Frits R; den Ruijter, Hester M; Schlessinger, David; Schmidt, Helena; Svento, Rauli; Schmidt, Reinhold; Alizadeh, Behrooz Z; Sørensen, Thorkild I A; Spector, Tim D; Starr, John M; Stefansson, Kari; Steptoe, Andrew; Terracciano, Antonio; Thorsteinsdottir, Unnur; Thurik, A Roy; Timpson, Nicholas J; Tiemeier, Henning; Uitterlinden, André G; Vollenweider, Peter; Wagner, Gert G; Weir, David R; Yang, Jian; Conley, Dalton C; Smith, George Davey; Hofman, Albert; Johannesson, Magnus; Laibson, David I; Medland, Sarah E; Meyer, Michelle N; Pickrell, Joseph K; Esko, Tõnu; Krueger, Robert F; Beauchamp, Jonathan P; Koellinger, Philipp D; Benjamin, Daniel J; Bartels, Meike; Cesarini, David

    2016-01-01

    We conducted genome-wide association studies of three phenotypes: subjective well-being (N = 298,420), depressive symptoms (N = 161,460), and neuroticism (N = 170,910). We identified three variants associated with subjective well-being, two with depressive symptoms, and eleven with neuroticism, including two inversion polymorphisms. The two depressive symptoms loci replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (|ρ^| ≈ 0.8) strengthen the overall credibility of the findings, and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal/pancreas tissues are strongly enriched for association. PMID:27089181

  3. Energy and exergy analyses of the diffusion absorption refrigeration system

    International Nuclear Information System (INIS)

    Yıldız, Abdullah; Ersöz, Mustafa Ali

    2013-01-01

    This paper describes the thermodynamic analyses of a DAR (diffusion absorption refrigeration) cycle. The experimental apparatus is set up to an ammonia–water DAR cycle with helium as the auxiliary inert gas. A thermodynamic model including mass, energy and exergy balance equations are presented for each component of the DAR cycle and this model is then validated by comparison with experimental data. In the thermodynamic analyses, energy and exergy losses for each component of the system are quantified and illustrated. The systems' energy and exergy losses and efficiencies are investigated. The highest energy and exergy losses occur in the solution heat exchanger. The highest energy losses in the experimental and theoretical analyses are found 25.7090 W and 25.4788 W respectively, whereas those losses as to exergy are calculated 13.7933 W and 13.9976 W. Although the values of energy efficiencies obtained from both the model and experimental studies are calculated as 0.1858, those values, in terms of exergy efficiencies are found 0.0260 and 0.0356. - Highlights: • The diffusion absorption refrigerator system is designed manufactured and tested. • The energy and exergy analyses of the system are presented theoretically and experimentally. • The energy and exergy losses are investigated for each component of the system. • The highest energy and exergy losses occur in the solution heat exchanger. • The energy and the exergy performances are also calculated

  4. Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

    Directory of Open Access Journals (Sweden)

    Long Cui

    Full Text Available We present the genetic analyses conducted on a three-generation family (14 individuals with three members affected with isolated-Hirschsprung disease (HSCR and one with HSCR and heterochromia iridum (syndromic-HSCR, a phenotype reminiscent of Waardenburg-Shah syndrome (WS4. WS4 is characterized by pigmentary abnormalities of the skin, eyes and/or hair, sensorineural deafness and HSCR. None of the members had sensorineural deafness. The family was screened for copy number variations (CNVs using Illumina-HumanOmni2.5-Beadchip and for coding sequence mutations in WS4 genes (EDN3, EDNRB, or SOX10 and in the main HSCR gene (RET. Confocal microscopy and immunoblotting were used to assess the functional impact of the mutations. A heterozygous A/G transition in EDNRB was identified in 4 affected and 3 unaffected individuals. While in EDNRB isoforms 1 and 2 (cellular receptor the transition results in the abolishment of translation initiation (M1V, in isoform 3 (only in the cytosol the replacement occurs at Met91 (M91V and is predicted benign. Another heterozygous transition (c.-248G/A; -predicted to affect translation efficiency- in the 5'-untranslated region of EDN3 (EDNRB ligand was detected in all affected individuals but not in healthy carriers of the EDNRB mutation. Also, a de novo CNVs encompassing DACH1 was identified in the patient with heterochromia iridum and HSCR Since the EDNRB and EDN3 variants only coexist in affected individuals, HSCR could be due to the joint effect of mutations in genes of the same pathway. Iris heterochromia could be due to an independent genetic event and would account for the additional phenotype within the family.

  5. Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma

    International Nuclear Information System (INIS)

    Rumbajan, Janette Mareska; Aoki, Shigehisa; Kohashi, Kenichi; Oda, Yoshinao; Hata, Kenichiro; Saji, Tsutomu; Taguchi, Tomoaki; Tajiri, Tatsuro; Soejima, Hidenobu; Joh, Keiichiro; Maeda, Toshiyuki; Souzaki, Ryota; Mitsui, Kazumasa; Higashimoto, Ken; Nakabayashi, Kazuhiko; Yatsuki, Hitomi; Nishioka, Kenichi; Harada, Ryoko

    2013-01-01

    Aberrant methylation at imprinted differentially methylated regions (DMRs) in human 11p15.5 has been reported in many tumors including hepatoblastoma. However, the methylation status of imprinted DMRs in imprinted loci scattered through the human genome has not been analyzed yet in any tumors. The methylation statuses of 33 imprinted DMRs were analyzed in 12 hepatoblastomas and adjacent normal liver tissue by MALDI-TOF MS and pyrosequencing. Uniparental disomy (UPD) and copy number abnormalities were investigated with DNA polymorphisms. Among 33 DMRs analyzed, 18 showed aberrant methylation in at least 1 tumor. There was large deviation in the incidence of aberrant methylation among the DMRs. KvDMR1 and IGF2-DMR0 were the most frequently hypomethylated DMRs. INPP5Fv2-DMR and RB1-DMR were hypermethylated with high frequencies. Hypomethylation was observed at certain DMRs not only in tumors but also in a small number of adjacent histologically normal liver tissue, whereas hypermethylation was observed only in tumor samples. The methylation levels of long interspersed nuclear element-1 (LINE-1) did not show large differences between tumor tissue and normal liver controls. Chromosomal abnormalities were also found in some tumors. 11p15.5 and 20q13.3 loci showed the frequent occurrence of both genetic and epigenetic alterations. Our analyses revealed tumor-specific aberrant hypermethylation at some imprinted DMRs in 12 hepatoblastomas with additional suggestion for the possibility of hypomethylation prior to tumor development. Some loci showed both genetic and epigenetic alterations with high frequencies. These findings will aid in understanding the development of hepatoblastoma

  6. Diallel analyses and estimation of genetic parameters of hot pepper (Capsicum chinense Jacq.

    Directory of Open Access Journals (Sweden)

    Sousa João Alencar de

    2003-01-01

    Full Text Available The degree of heterosis in the genus Capsicum spp. is considered high; however, most of the studies refer to the species Capsicum annuum L. In spite of the potential use of F1 hybrids in pungent peppers of the species Capsicum chinense, few studies are available which assess the magnitude of heterosis in this species . This study was carried out to assess heterosis and its components in F1 hybrids from a diallel cross between hot pepper lines (Capsicum chinense and to obtain data on the allelic interaction between the parents involved in the crosses. Trials were made in Rio Branco-Acre, Brazil, from March through October 1997. A randomized complete block design with fifteen treatments and three replications was used. The treatments were five C. chinense accessions (from the Vegetable Germplasm Bank of the Universidade Federal de Viçosa - BGH/UFV and 10 F1 hybrids derived from single crosses between them (reciprocals excluded. Diallel analyses were performed for total yield, fruit length/diameter ratio, fruit dry matter per plant, Xanthomonas campestris pv. vesicatoria incidence, capsaicin yield per plant and number of seeds per fruit. Non-additive genetic effects were larger than additive effects for all the traits assessed. Epistasis was detected for fruit dry matter per plant, capsaicin yield per plant and number of seeds per fruit. In these cases, epistasis seemed to be largely responsible for heterosis expression. Dominant gene action, ranging from incomplete dominance to probable overdominance, was responsible for heterosis in those traits where no epistatic genetic action was detected.

  7. What Risk Assessments of Genetically Modified Organisms Can Learn from Institutional Analyses of Public Health Risks

    Directory of Open Access Journals (Sweden)

    S. Ravi Rajan

    2012-01-01

    Full Text Available The risks of genetically modified organisms (GMOs are evaluated traditionally by combining hazard identification and exposure estimates to provide decision support for regulatory agencies. We question the utility of the classical risk paradigm and discuss its evolution in GMO risk assessment. First, we consider the problem of uncertainty, by comparing risk assessment for environmental toxins in the public health domain with genetically modified organisms in the environment; we use the specific comparison of an insecticide to a transgenic, insecticidal food crop. Next, we examine normal accident theory (NAT as a heuristic to consider runaway effects of GMOs, such as negative community level consequences of gene flow from transgenic, insecticidal crops. These examples illustrate how risk assessments are made more complex and contentious by both their inherent uncertainty and the inevitability of failure beyond expectation in complex systems. We emphasize the value of conducting decision-support research, embracing uncertainty, increasing transparency, and building interdisciplinary institutions that can address the complex interactions between ecosystems and society. In particular, we argue against black boxing risk analysis, and for a program to educate policy makers about uncertainty and complexity, so that eventually, decision making is not the burden that falls upon scientists but is assumed by the public at large.

  8. What risk assessments of genetically modified organisms can learn from institutional analyses of public health risks.

    Science.gov (United States)

    Rajan, S Ravi; Letourneau, Deborah K

    2012-01-01

    The risks of genetically modified organisms (GMOs) are evaluated traditionally by combining hazard identification and exposure estimates to provide decision support for regulatory agencies. We question the utility of the classical risk paradigm and discuss its evolution in GMO risk assessment. First, we consider the problem of uncertainty, by comparing risk assessment for environmental toxins in the public health domain with genetically modified organisms in the environment; we use the specific comparison of an insecticide to a transgenic, insecticidal food crop. Next, we examine normal accident theory (NAT) as a heuristic to consider runaway effects of GMOs, such as negative community level consequences of gene flow from transgenic, insecticidal crops. These examples illustrate how risk assessments are made more complex and contentious by both their inherent uncertainty and the inevitability of failure beyond expectation in complex systems. We emphasize the value of conducting decision-support research, embracing uncertainty, increasing transparency, and building interdisciplinary institutions that can address the complex interactions between ecosystems and society. In particular, we argue against black boxing risk analysis, and for a program to educate policy makers about uncertainty and complexity, so that eventually, decision making is not the burden that falls upon scientists but is assumed by the public at large.

  9. Integrating genetic data and population viability analyses for the identification of harbour seal (Phoca vitulina) populations and management units

    DEFF Research Database (Denmark)

    Olsen, Morten Tange; Andersen, Liselotte Wesley; Dietz, Rune

    2014-01-01

    present a novel approach, integrating genetic, life-history and demographic data to identify populations and management units in southern Scandinavian harbour seals. First, 15 microsatellite markers and model- and distance-based genetic clustering methods were used to determine the population genetic...... structure in harbour seals. Second, we used harbour seal demographic and life-history data to conduct population viability analyses (PVAs) in the VORTEX simulation model in order to determine whether the inferred genetic units could be classified as management units according to Lowe and Allendorf's (2010......, and that the combined use of genetic data and PVAs constitute a promising approach for delineating populations and management units. This article is protected by copyright. All rights reserved....

  10. TAXONOMY AND GENETIC RELATIONSHIPS OF PANGASIIDAE, ASIAN CATFISHES, BASED ON MORPHOLOGICAL AND MOLECULAR ANALYSES

    Directory of Open Access Journals (Sweden)

    Rudhy Gustiano

    2007-12-01

    Full Text Available Pangasiids are economically important riverine catfishes generally residing in freshwater from the Indian subcontinent to the Indonesian Archipelago. The systematics of this family are still poorly known. Consequently, lack of such basic information impedes the understanding of the biology of the Pangasiids and the study of their aquaculture potential as well as improvement of seed production and growth performance. The objectives of the present study are to clarify phylogeny of this family based on a biometric analysis and molecular evidence using 12S ribosomal mtDNA on the total of 1070 specimens. The study revealed that 28 species are recognised as valid in Pangasiidae. Four genera are also recognized as Helicophagus Bleeker 1858, Pangasianodon Chevey 1930, Pteropangasius Fowler 1937, and Pangasius Valenciennes 1840 instead of two as reported by previous workers. The phylogenetic analysis demonstrated the recognised genera, and genetic relationships among taxa. Overall, trees from the different analyses show similar topologies and confirm the hypothesis derived from geological history, palaeontology, and similar models in other taxa of fishes from the same area. The oldest genus may already have existed when the Asian mainland was still connected to the islands in the southern part about 20 million years ago.

  11. From sexless to sexy: Why it is time for human genetics to consider and report analyses of sex.

    Science.gov (United States)

    Powers, Matthew S; Smith, Phillip H; McKee, Sherry A; Ehringer, Marissa A

    2017-01-01

    Science has come a long way with regard to the consideration of sex differences in clinical and preclinical research, but one field remains behind the curve: human statistical genetics. The goal of this commentary is to raise awareness and discussion about how to best consider and evaluate possible sex effects in the context of large-scale human genetic studies. Over the course of this commentary, we reinforce the importance of interpreting genetic results in the context of biological sex, establish evidence that sex differences are not being considered in human statistical genetics, and discuss how best to conduct and report such analyses. Our recommendation is to run stratified analyses by sex no matter the sample size or the result and report the findings. Summary statistics from stratified analyses are helpful for meta-analyses, and patterns of sex-dependent associations may be hidden in a combined dataset. In the age of declining sequencing costs, large consortia efforts, and a number of useful control samples, it is now time for the field of human genetics to appropriately include sex in the design, analysis, and reporting of results.

  12. Gene Set Analyses of Genome-Wide Association Studies on 49 Quantitative Traits Measured in a Single Genetic Epidemiology Dataset

    Directory of Open Access Journals (Sweden)

    Jihye Kim

    2013-09-01

    Full Text Available Gene set analysis is a powerful tool for interpreting a genome-wide association study result and is gaining popularity these days. Comparison of the gene sets obtained for a variety of traits measured from a single genetic epidemiology dataset may give insights into the biological mechanisms underlying these traits. Based on the previously published single nucleotide polymorphism (SNP genotype data on 8,842 individuals enrolled in the Korea Association Resource project, we performed a series of systematic genome-wide association analyses for 49 quantitative traits of basic epidemiological, anthropometric, or blood chemistry parameters. Each analysis result was subjected to subsequent gene set analyses based on Gene Ontology (GO terms using gene set analysis software, GSA-SNP, identifying a set of GO terms significantly associated to each trait (pcorr < 0.05. Pairwise comparison of the traits in terms of the semantic similarity in their GO sets revealed surprising cases where phenotypically uncorrelated traits showed high similarity in terms of biological pathways. For example, the pH level was related to 7 other traits that showed low phenotypic correlations with it. A literature survey implies that these traits may be regulated partly by common pathways that involve neuronal or nerve systems.

  13. Mutational analyses of molecularly cloned satellite tobacco mosaic virus during serial passage in plants: Evidence for hotspots of genetic change

    Science.gov (United States)

    Kurath, G.; Dodds, J.A.

    1995-01-01

    The high level of genetic diversity and rapid evolution of viral RNA genomes are well documented, but few studies have characterized the rate and nature of ongoing genetic change over time under controlled experimental conditions, especially in plant hosts. The RNA genome of satellite tobacco mosaic virus (STMV) was used as an effective model for such studies because of advantageous features of its genome structure and because the extant genetic heterogeneity of STMV has been characterized previously. In the present study, the process of genetic change over time was studied by monitoring multiple serial passage lines of STMV populations for changes in their consensus sequences. A total of 42 passage lines were initiated by inoculation of tobacco plants with a helper tobamovirus and one of four STMV RNA inocula that were transcribed from full-length infectious STMV clones or extracted from purified STMV type strain virions. Ten serial passages were carried out for each line and the consensus genotypes of progeny STMV populations were assessed for genetic change by RNase protection analyses of the entire 1,059-nt STMV genome. Three different types of genetic change were observed, including the fixation of novel mutations in 9 of 42 lines, mutation at the major heterogeneity site near nt 751 in 5 of the 19 lines inoculated with a single genotype, and selection of a single major genotype in 6 of the 23 lines inoculated with mixed genotypes. Sequence analyses showed that the majority of mutations were single base substitutions. The distribution of mutation sites included three clusters in which mutations occurred at or very near the same site, suggesting hot spots of genetic change in the STMV genome. The diversity of genetic changes in sibling lines is clear evidence for the important role of chance and random sampling events in the process of genetic diversification of STMV virus populations.

  14. A new automated assign and analysing method for high-resolution rotationally resolved spectra using genetic algorithms

    NARCIS (Netherlands)

    Meerts, W.L.; Schmitt, M.

    2006-01-01

    This paper describes a numerical technique that has recently been developed to automatically assign and fit high-resolution spectra. The method makes use of genetic algorithms (GA). The current algorithm is compared with previously used analysing methods. The general features of the GA and its

  15. The role of host genetic factors in respiratory tract infectious diseases: systematic review, meta-analyses and field synopsis

    NARCIS (Netherlands)

    Patarčić, Inga; Gelemanović, Andrea; Kirin, Mirna; Kolčić, Ivana; Theodoratou, Evropi; Baillie, Kenneth J.; de Jong, Menno D.; Rudan, Igor; Campbell, Harry; Polašek, Ozren

    2015-01-01

    Host genetic factors have frequently been implicated in respiratory infectious diseases, often with inconsistent results in replication studies. We identified 386 studies from the total of 24,823 studies identified in a systematic search of four bibliographic databases. We performed meta-analyses of

  16. Nuclear Analyses of Indian LLCB Test Blanket System in ITER

    Science.gov (United States)

    Swami, H. L.; Shaw, A. K.; Danani, C.; Chaudhuri, Paritosh

    2017-04-01

    Heading towards the Nuclear Fusion Reactor Program, India is developing Lead Lithium Ceramic Breeder (LLCB) tritium breeding blanket for its future fusion Reactor. A mock-up of the LLCB blanket is proposed to be tested in ITER equatorial port no.2, to ensure the overall performance of blanket in reactor relevant nuclear fusion environment. Nuclear analyses play an important role in LLCB Test Blanket System design & development. It is required for tritium breeding estimation, thermal-hydraulic design, coolants process design, radioactive waste management, equipment maintenance & replacement strategies and nuclear safety. The nuclear behaviour of LLCB test blanket module in ITER is predicated in terms of nuclear responses such as tritium production, nuclear heating, neutron fluxes and radiation damages. Radiation shielding capability of LLCB TBS inside and outside bio-shield was also assessed to fulfill ITER shielding requirements. In order to supports the rad-waste and safety assessment, nuclear activation analyses were carried out and radioactivity data were generated for LLCB TBS components. Nuclear analyses of LLCB TBS are performed using ITER recommended nuclear analyses codes (i.e. MCNP, EASY), nuclear cross section data libraries (i.e. FENDL 2.1, EAF) and neutronic model (ITER C-lite v.l). The paper describes a comprehensive nuclear performance of LLCB TBS in ITER.

  17. Value and cost analyses for solar thermal-storage systems

    Energy Technology Data Exchange (ETDEWEB)

    Luft, W.; Copeland, R.J.

    1983-04-01

    Value and cost data for thermal energy storage are presented for solar thermal central receiver systems for which thermal energy storage appears to be attractive. Both solar thermal electric power and industrial process heat applications are evaluated. The value of storage is based on the cost for fossil fuel and solar thermal collector systems in 1990. The costing uses a standard lifetime methodology with the storage capacity as a parameter. Both value and costs are functions of storage capacity. However, the value function depends on the application. Value/cost analyses for first-generation storage concepts for five central receiver systems (molten salt, water/steam, organic fluid, air, and liquid metal) established the reference against which new systems were compared. Some promising second-generation energy storage concepts have been identified, and some more advanced concepts have also been evaluated.

  18. Architecture Level Safety Analyses for Safety-Critical Systems

    Directory of Open Access Journals (Sweden)

    K. S. Kushal

    2017-01-01

    Full Text Available The dependency of complex embedded Safety-Critical Systems across Avionics and Aerospace domains on their underlying software and hardware components has gradually increased with progression in time. Such application domain systems are developed based on a complex integrated architecture, which is modular in nature. Engineering practices assured with system safety standards to manage the failure, faulty, and unsafe operational conditions are very much necessary. System safety analyses involve the analysis of complex software architecture of the system, a major aspect in leading to fatal consequences in the behaviour of Safety-Critical Systems, and provide high reliability and dependability factors during their development. In this paper, we propose an architecture fault modeling and the safety analyses approach that will aid in identifying and eliminating the design flaws. The formal foundations of SAE Architecture Analysis & Design Language (AADL augmented with the Error Model Annex (EMV are discussed. The fault propagation, failure behaviour, and the composite behaviour of the design flaws/failures are considered for architecture safety analysis. The illustration of the proposed approach is validated by implementing the Speed Control Unit of Power-Boat Autopilot (PBA system. The Error Model Annex (EMV is guided with the pattern of consideration and inclusion of probable failure scenarios and propagation of fault conditions in the Speed Control Unit of Power-Boat Autopilot (PBA. This helps in validating the system architecture with the detection of the error event in the model and its impact in the operational environment. This also provides an insight of the certification impact that these exceptional conditions pose at various criticality levels and design assurance levels and its implications in verifying and validating the designs.

  19. Comparative analyses of Legionella species identifies genetic features of strains causing Legionnaires' disease.

    Science.gov (United States)

    Gomez-Valero, Laura; Rusniok, Christophe; Rolando, Monica; Neou, Mario; Dervins-Ravault, Delphine; Demirtas, Jasmin; Rouy, Zoe; Moore, Robert J; Chen, Honglei; Petty, Nicola K; Jarraud, Sophie; Etienne, Jerome; Steinert, Michael; Heuner, Klaus; Gribaldo, Simonetta; Médigue, Claudine; Glöckner, Gernot; Hartland, Elizabeth L; Buchrieser, Carmen

    2014-01-01

    The genus Legionella comprises over 60 species. However, L. pneumophila and L. longbeachae alone cause over 95% of Legionnaires’ disease. To identify the genetic bases underlying the different capacities to cause disease we sequenced and compared the genomes of L. micdadei, L. hackeliae and L. fallonii (LLAP10), which are all rarely isolated from humans. We show that these Legionella species possess different virulence capacities in amoeba and macrophages, correlating with their occurrence in humans. Our comparative analysis of 11 Legionella genomes belonging to five species reveals highly heterogeneous genome content with over 60% representing species-specific genes; these comprise a complete prophage in L. micdadei, the first ever identified in a Legionella genome. Mobile elements are abundant in Legionella genomes; many encode type IV secretion systems for conjugative transfer, pointing to their importance for adaptation of the genus. The Dot/Icm secretion system is conserved, although the core set of substrates is small, as only 24 out of over 300 described Dot/Icm effector genes are present in all Legionella species. We also identified new eukaryotic motifs including thaumatin, synaptobrevin or clathrin/coatomer adaptine like domains. Legionella genomes are highly dynamic due to a large mobilome mainly comprising type IV secretion systems, while a minority of core substrates is shared among the diverse species. Eukaryotic like proteins and motifs remain a hallmark of the genus Legionella. Key factors such as proteins involved in oxygen binding, iron storage, host membrane transport and certain Dot/Icm substrates are specific features of disease-related strains.

  20. Molecular marker systems for Oenothera genetics.

    Science.gov (United States)

    Rauwolf, Uwe; Golczyk, Hieronim; Meurer, Jörg; Herrmann, Reinhold G; Greiner, Stephan

    2008-11-01

    The genus Oenothera has an outstanding scientific tradition. It has been a model for studying aspects of chromosome evolution and speciation, including the impact of plastid nuclear co-evolution. A large collection of strains analyzed during a century of experimental work and unique genetic possibilities allow the exchange of genetically definable plastids, individual or multiple chromosomes, and/or entire haploid genomes (Renner complexes) between species. However, molecular genetic approaches for the genus are largely lacking. In this study, we describe the development of efficient PCR-based marker systems for both the nuclear genome and the plastome. They allow distinguishing individual chromosomes, Renner complexes, plastomes, and subplastomes. We demonstrate their application by monitoring interspecific exchanges of genomes, chromosome pairs, and/or plastids during crossing programs, e.g., to produce plastome-genome incompatible hybrids. Using an appropriate partial permanent translocation heterozygous hybrid, linkage group 7 of the molecular map could be assigned to chromosome 9.8 of the classical Oenothera map. Finally, we provide the first direct molecular evidence that homologous recombination and free segregation of chromosomes in permanent translocation heterozygous strains is suppressed.

  1. Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.

    Science.gov (United States)

    Pilorge, M; Fassier, C; Le Corronc, H; Potey, A; Bai, J; De Gois, S; Delaby, E; Assouline, B; Guinchat, V; Devillard, F; Delorme, R; Nygren, G; Råstam, M; Meier, J C; Otani, S; Cheval, H; James, V M; Topf, M; Dear, T N; Gillberg, C; Leboyer, M; Giros, B; Gautron, S; Hazan, J; Harvey, R J; Legendre, P; Betancur, C

    2016-07-01

    Autism spectrum disorder (ASD) is a common neurodevelopmental condition characterized by marked genetic heterogeneity. Recent studies of rare structural and sequence variants have identified hundreds of loci involved in ASD, but our knowledge of the overall genetic architecture and the underlying pathophysiological mechanisms remains incomplete. Glycine receptors (GlyRs) are ligand-gated chloride channels that mediate inhibitory neurotransmission in the adult nervous system but exert an excitatory action in immature neurons. GlyRs containing the α2 subunit are highly expressed in the embryonic brain, where they promote cortical interneuron migration and the generation of excitatory projection neurons. We previously identified a rare microdeletion of the X-linked gene GLRA2, encoding the GlyR α2 subunit, in a boy with autism. The microdeletion removes the terminal exons of the gene (GLRA2(Δex8-9)). Here, we sequenced 400 males with ASD and identified one de novo missense mutation, p.R153Q, absent from controls. In vitro functional analysis demonstrated that the GLRA2(Δex8)(-)(9) protein failed to localize to the cell membrane, while the R153Q mutation impaired surface expression and markedly reduced sensitivity to glycine. Very recently, an additional de novo missense mutation (p.N136S) was reported in a boy with ASD, and we show that this mutation also reduced cell-surface expression and glycine sensitivity. Targeted glra2 knockdown in zebrafish induced severe axon-branching defects, rescued by injection of wild type but not GLRA2(Δex8-9) or R153Q transcripts, providing further evidence for their loss-of-function effect. Glra2 knockout mice exhibited deficits in object recognition memory and impaired long-term potentiation in the prefrontal cortex. Taken together, these results implicate GLRA2 in non-syndromic ASD, unveil a novel role for GLRA2 in synaptic plasticity and learning and memory, and link altered glycinergic signaling to social and cognitive

  2. COCAP: a carbon dioxide analyser for small unmanned aircraft systems

    Science.gov (United States)

    Kunz, Martin; Lavric, Jost V.; Gerbig, Christoph; Tans, Pieter; Neff, Don; Hummelgård, Christine; Martin, Hans; Rödjegård, Henrik; Wrenger, Burkhard; Heimann, Martin

    2018-03-01

    Unmanned aircraft systems (UASs) could provide a cost-effective way to close gaps in the observation of the carbon cycle, provided that small yet accurate analysers are available. We have developed a COmpact Carbon dioxide analyser for Airborne Platforms (COCAP). The accuracy of COCAP's carbon dioxide (CO2) measurements is ensured by calibration in an environmental chamber, regular calibration in the field and by chemical drying of sampled air. In addition, the package contains a lightweight thermal stabilisation system that reduces the influence of ambient temperature changes on the CO2 sensor by 2 orders of magnitude. During validation of COCAP's CO2 measurements in simulated and real flights we found a measurement error of 1.2 µmol mol-1 or better with no indication of bias. COCAP is a self-contained package that has proven well suited for the operation on board small UASs. Besides carbon dioxide dry air mole fraction it also measures air temperature, humidity and pressure. We describe the measurement system and our calibration strategy in detail to support others in tapping the potential of UASs for atmospheric trace gas measurements.

  3. Thermal and hydraulic analyses of the System 81 cold traps

    Energy Technology Data Exchange (ETDEWEB)

    Kim, K.

    1977-06-15

    Thermal and hydraulic analyses of the System 81 Type I and II cold traps were completed except for thermal transients analysis. Results are evaluated, discussed, and reported. Analytical models were developed to determine the physical dimensions of the cold traps and to predict the performance. The FFTF cold trap crystallizer performances were simulated using the thermal model. This simulation shows that the analytical model developed predicts reasonably conservative temperatures. Pressure drop and sodium residence time calculations indicate that the present design will meet the requirements specified in the E-Specification. Steady state temperature data for the critical regions were generated to assess the magnitude of the thermal stress.

  4. Genetic Diversity among Rhizobium leguminosarum bv. Trifolii Strains Revealed by Allozyme and Restriction Fragment Length Polymorphism Analyses

    Science.gov (United States)

    Demezas, David H.; Reardon, Terry B.; Watson, John M.; Gibson, Alan H.

    1991-01-01

    Allozyme electrophoresis and restriction fragment length polymorphism (RFLP) analyses were used to examine the genetic diversity of a collection of 18 Rhizobium leguminosarum bv. trifolii, 1 R. leguminosarum bv. viciae, and 2 R. meliloti strains. Allozyme analysis at 28 loci revealed 16 electrophoretic types. The mean genetic distance between electrophoretic types of R. leguminosarum and R. meliloti was 0.83. Within R. leguminosarum, the single strain of bv. viciae differed at an average of 0.65 from strains of bv. trifolii, while electrophoretic types of bv. trifolii differed at a range of 0.23 to 0.62. Analysis of RFLPs around two chromosomal DNA probes also delineated 16 unique RFLP patterns and yielded genetic diversity similar to that revealed by the allozyme data. Analysis of RFLPs around three Sym (symbiotic) plasmid-derived probes demonstrated that the Sym plasmids reflect genetic divergence similar to that of their bacterial hosts. The large genetic distances between many strains precluded reliable estimates of their genetic relationships. PMID:16348600

  5. Transient Thermal Analyses of Passive Systems on SCEPTOR X-57

    Science.gov (United States)

    Chin, Jeffrey C.; Schnulo, Sydney L.; Smith, Andrew D.

    2017-01-01

    As efficiency, emissions, and noise become increasingly prominent considerations in aircraft design, turning to an electric propulsion system is a desirable solution. Achieving the intended benefits of distributed electric propulsion (DEP) requires thermally demanding high power systems, presenting a different set of challenges compared to traditional aircraft propulsion. The embedded nature of these heat sources often preclude the use of traditional thermal management systems in order to maximize performance, with less opportunity to exhaust waste heat to the surrounding environment. This paper summarizes the thermal analyses of X-57 vehicle subsystems that don't employ externally air-cooled heat sinks. The high-power battery, wires, high-lift motors, and aircraft outer surface are subjected to heat loads with stringent thermal constraints. The temperature of these components are tracked transiently, since they never reach a steady-state equilibrium. Through analysis and testing, this report demonstrates that properly characterizing the material properties is key to accurately modeling peak temperature of these systems, with less concern for spatial thermal gradients. Experimentally validated results show the thermal profile of these systems can be sufficiently estimated using reduced order approximations.

  6. Genetic and molecular analyses of UV radiation-induced mutations in the fem-3 gene of Caenorhabditis elegans

    Energy Technology Data Exchange (ETDEWEB)

    Hartman, P S; De Wilde, D; Dwarakanath, V N [Texas Christian Univ., Fort Worth, TX (United States). Dept. of Biology

    1995-06-01

    The utility of a new target gene (fem-3) is described for investigating the molecular nature of mutagenesis in the nematode Caenorhabditis elegans. As a principal attribute, this system allows for the selection, maintenance and molecular analysis of any type of mutation that disrupts the gene, including deletions. In this study, 86 mutant strains were isolated, of which 79 proved to have mutations in fem-3. Twenty of these originally tested as homozygous inviable. Homozygous inviability was expected, as Stewart and coworkers had previously observed that, unlike in other organisms, most UV radiation-induced mutations in C. elegans are chromosomal rearrangements of deficiencies (Mutat. Res 249, 37-54, 1991). However, additional data, including Southern blot analyses on 49 of the strains, indicated that most of the UV radiation-induced fem-3 mutations were not deficiencies, as originally inferred from their homozygous inviability. Instead, the lethals were most likely ``coincident mutations`` in linked, essential genes that were concomitantly induced. As such, they were lost owing to genetic recombination during stock maintenance. As in mammalian cells, yeast and bacteria, the frequency of coincident mutations was much higher than would be predicted by chance. (Author).

  7. Numerical FEM Analyses of primary coolant system at NPP Temelin

    International Nuclear Information System (INIS)

    Junek, L.; Slovacek, M.; Ruzek, L.; Moulis, P.

    2003-01-01

    The main goal of this paper is to inform about the beginning and first steps of implementation of an aging management system at the Temelin NPP. The aging management system is important not only for achieving the current safety level but also for reaching operational reliability of a production unit equipment above the life time assumed by the original design, typically over 40 years. A method to locate the most prominent degradation regions is described. A global shell model of the primary coolant system including all loops and their components - reactor pressure vessel (RPV), steam generator (SG), main coolant pump (MCP), pressurizer, feed water and steam pipelines system is presented. The results of stress-strain analysis on the measured service parameters base are given. Validation of the results is very important and the method to compare the service measurement data with the numerical results is described. The global/local approach is mentioned and discussed. The effects of the complete global system on the individual components under monitoring are transformed into more accurate local spatial models. The local spatial models are used to analyze the gradual lifetime exhaustion of a facility during its service operation. Two spatial local models are presented, viz. feed water nozzle of SG and main coolant piping system T-brunch. The results of analysis of the local spatial models are processed by the neural network computing method, which is also described. The actual gradual damage of the material of the components under monitoring can be obtained based on the analyses performed and on the results from the neural network in combination with the knowledge of the real material characteristics. The procedures applied are included in the DIALIFE diagnostic system

  8. Dynamics of energy systems: Methods of analysing technology change

    Energy Technology Data Exchange (ETDEWEB)

    Neij, Lena

    1999-05-01

    Technology change will have a central role in achieving a sustainable energy system. This calls for methods of analysing the dynamics of energy systems in view of technology change and policy instruments for effecting and accelerating technology change. In this thesis, such methods have been developed, applied, and assessed. Two types of methods have been considered, methods of analysing and projecting the dynamics of future technology change and methods of evaluating policy instruments effecting technology change, i.e. market transformation programmes. Two methods are focused on analysing the dynamics of future technology change; vintage models and experience curves. Vintage models, which allow for complex analysis of annual streams of energy and technological investments, are applied to the analysis of the time dynamics of electricity demand for lighting and air-distribution in Sweden. The results of the analyses show that the Swedish electricity demand for these purposes could decrease over time, relative to a reference scenario, if policy instruments are used. Experience curves are used to provide insight into the prospects of diffusion of wind turbines and photo voltaic (PV) modules due to cost reduction. The results show potential for considerable cost reduction for wind-generated electricity, which, in turn, could lead to major diffusion of wind turbines. The results also show that major diffusion of PV modules, and a reduction of PV generated electricity down to the level of conventional base-load electricity, will depend on large investments in bringing the costs down (through R D and D, market incentives and investments in niche markets) or the introduction of new generations of PV modules (e.g. high-efficiency mass-produced thin-film cells). Moreover, a model has been developed for the evaluation of market transformation programmes, i.e. policy instruments that effect technology change and the introduction and commercialisation of energy

  9. Synthesis of Trigeneration Systems: Sensitivity Analyses and Resilience

    Directory of Open Access Journals (Sweden)

    Monica Carvalho

    2013-01-01

    Full Text Available This paper presents sensitivity and resilience analyses for a trigeneration system designed for a hospital. The following information is utilized to formulate an integer linear programming model: (1 energy service demands of the hospital, (2 technical and economical characteristics of the potential technologies for installation, (3 prices of the available utilities interchanged, and (4 financial parameters of the project. The solution of the model, minimizing the annual total cost, provides the optimal configuration of the system (technologies installed and number of pieces of equipment and the optimal operation mode (operational load of equipment, interchange of utilities with the environment, convenience of wasting cogenerated heat, etc. at each temporal interval defining the demand. The broad range of technical, economic, and institutional uncertainties throughout the life cycle of energy supply systems for buildings makes it necessary to delve more deeply into the fundamental properties of resilient systems: feasibility, flexibility and robustness. The resilience of the obtained solution is tested by varying, within reasonable limits, selected parameters: energy demand, amortization and maintenance factor, natural gas price, self-consumption of electricity, and time-of-delivery feed-in tariffs.

  10. Simulation, prediction, and genetic analyses of daily methane emissions in dairy cattle.

    Science.gov (United States)

    Yin, T; Pinent, T; Brügemann, K; Simianer, H; König, S

    2015-08-01

    This study presents an approach combining phenotypes from novel traits, deterministic equations from cattle nutrition, and stochastic simulation techniques from animal breeding to generate test-day methane emissions (MEm) of dairy cows. Data included test-day production traits (milk yield, fat percentage, protein percentage, milk urea nitrogen), conformation traits (wither height, hip width, body condition score), female fertility traits (days open, calving interval, stillbirth), and health traits (clinical mastitis) from 961 first lactation Brown Swiss cows kept on 41 low-input farms in Switzerland. Test-day MEm were predicted based on the traits from the current data set and 2 deterministic prediction equations, resulting in the traits labeled MEm1 and MEm2. Stochastic simulations were used to assign individual concentrate intake in dependency of farm-type specifications (requirement when calculating MEm2). Genetic parameters for MEm1 and MEm2 were estimated using random regression models. Predicted MEm had moderate heritabilities over lactation and ranged from 0.15 to 0.37, with highest heritabilities around DIM 100. Genetic correlations between MEm1 and MEm2 ranged between 0.91 and 0.94. Antagonistic genetic correlations in the range from 0.70 to 0.92 were found for the associations between MEm2 and milk yield. Genetic correlations between MEm with days open and with calving interval increased from 0.10 at the beginning to 0.90 at the end of lactation. Genetic relationships between MEm2 and stillbirth were negative (0 to -0.24) from the beginning to the peak phase of lactation. Positive genetic relationships in the range from 0.02 to 0.49 were found between MEm2 with clinical mastitis. Interpretation of genetic (co)variance components should also consider the limitations when using data generated by prediction equations. Prediction functions only describe that part of MEm which is dependent on the factors and effects included in the function. With high

  11. Periodontal disease associated to systemic genetic disorders.

    Science.gov (United States)

    Nualart Grollmus, Zacy Carola; Morales Chávez, Mariana Carolina; Silvestre Donat, Francisco Javier

    2007-05-01

    A number of systemic disorders increase patient susceptibility to periodontal disease, which moreover evolves more rapidly and more aggressively. The underlying factors are mainly related to alterations in immune, endocrine and connective tissue status. These alterations are associated with different pathologies and syndromes that generate periodontal disease either as a primary manifestation or by aggravating a pre-existing condition attributable to local factors. This is where the role of bacterial plaque is subject to debate. In the presence of qualitative or quantitative cellular immune alterations, periodontal disease may manifest early on a severe localized or generalized basis--in some cases related to the presence of plaque and/or specific bacteria (severe congenital neutropenia or infantile genetic agranulocytosis, Chediak-Higiashi syndrome, Down syndrome and Papillon-Lefévre syndrome). In the presence of humoral immune alterations, periodontal damage may result indirectly as a consequence of alterations in other systems. In connective tissue disorders, bacterial plaque and alterations of the periodontal tissues increase patient susceptibility to gingival inflammation and alveolar resorption (Marfan syndrome and Ehler-Danlos syndrome). The management of periodontal disease focuses on the control of infection and bacterial plaque by means of mechanical and chemical methods. Periodontal surgery and even extraction of the most seriously affected teeth have also been suggested. There are variable degrees of consensus regarding the background systemic disorder, as in the case of Chediak-Higiashi syndrome, where antibiotic treatment proves ineffective; in severe congenital neutropenia or infantile genetic agranulocytosis, where antibiotic prophylaxis is suggested; and in Papillon-Lefévre syndrome, where an established treatment protocol is available.

  12. Genetic and QTL analyses of yield and a set of physiological traits in pepper

    NARCIS (Netherlands)

    Alimi, N.A.; Bink, M.C.A.M.; Dieleman, J.A.; Nicolaï, M.; Wubs, M.; Heuvelink, E.; Magan, J.; Voorrips, R.E.; Jansen, J.; Rodrigues, P.C.; Heijden, van der G.W.A.M.; Vercauteren, A.; Vuylsteke, M.; Song, Y.; Glasbey, C.; Barocsi, A.; Lefebvre, V.; Palloix, A.; Eeuwijk, van F.A.

    2013-01-01

    An interesting strategy for improvement of a complex trait dissects the complex trait in a number of physiological component traits, with the latter having hopefully a simple genetic basis. The complex trait is then improved via improvement of its component traits. As first part of such a strategy

  13. The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data

    NARCIS (Netherlands)

    Thompson, Paul M.; Stein, Jason L.; Medland, Sarah E.; Hibar, Derrek P.; Vasquez, Alejandro Arias; Renteria, Miguel E.; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J.; Martin, Nicholas G.; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud; Almasy, Laura; Almeida, Jorge; Alpert, Kathryn; Andreasen, Nancy C.; Andreassen, Ole A.; Apostolova, Liana G.; Appel, Katja; Armstrong, Nicola J.; Aribisala, Benjamin; Bastin, Mark E.; Bauer, Michael; Bearden, Carrie E.; Bergmann, Orjan; Binder, Elisabeth B.; Blangero, John; Bockholt, Henry J.; Boen, Erlend; Bois, Catherine; Boomsma, Dorret I.; Booth, Tom; Bowman, Ian J.; Bralten, Janita; Brouwer, Rachel M.; Brunner, Han G.; Brohawn, David G.; Buckner, Randy L.; Buitelaar, Jan; Bulayeva, Kazima; Bustillo, Juan R.; Calhoun, Vince D.; Hartman, Catharina A.; Hoekstra, Pieter J.; Penninx, Brenda W.; Schmaal, Lianne; van Tol, Marie-Jose

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience,

  14. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

    NARCIS (Netherlands)

    Thompson, Paul M.; Stein, Jason L.; Medland, Sarah E.; Hibar, Derrek P.; Vasquez, Alejandro Arias; Renteria, Miguel E.; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J.; Martin, Nicholas G.; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud; Almasy, Laura; Almeida, Jorge; Alpert, Kathryn; Andreasen, Nancy C.; Andreassen, Ole A.; Apostolova, Liana G.; Appel, Katja; Armstrong, Nicola J.; Aribisala, Benjamin; Bastin, Mark E.; Bauer, Michael; Bearden, Carrie E.; Bergmann, Orjan; Binder, Elisabeth B.; Blangero, John; Bockholt, Henry J.; Bøen, Erlend; Bois, Catherine; Boomsma, Dorret I.; Booth, Tom; Bowman, Ian J.; Bralten, Janita; Brouwer, Rachel M.; Brunner, Han G.; Brohawn, David G.; Buckner, Randy L.; Buitelaar, Jan; Bulayeva, Kazima; Bustillo, Juan R.; Calhoun, Vince D.; Cannon, Dara M.; Cantor, Rita M.; Carless, Melanie A.; Caseras, Xavier; Cavalleri, Gianpiero L.; Chakravarty, M. Mallar; Chang, Kiki D.; Ching, Christopher R. K.; Christoforou, Andrea; Cichon, Sven; Clark, Vincent P.; Conrod, Patricia; Coppola, Giovanni; Crespo-Facorro, Benedicto; Curran, Joanne E.; Czisch, Michael; Deary, Ian J.; de Geus, Eco J. C.; den Braber, Anouk; Delvecchio, Giuseppe; Depondt, Chantal; de Haan, Lieuwe; de Zubicaray, Greig I.; Dima, Danai; Dimitrova, Rali; Djurovic, Srdjan; Dong, Hongwei; Donohoe, Gary; Duggirala, Ravindranath; Dyer, Thomas D.; Ehrlich, Stefan; Ekman, Carl Johan; Elvsåshagen, Torbjørn; Emsell, Louise; Erk, Susanne; Espeseth, Thomas; Fagerness, Jesen; Fears, Scott; Fedko, Iryna; Fernández, Guillén; Fisher, Simon E.; Foroud, Tatiana; Fox, Peter T.; Francks, Clyde; Frangou, Sophia; Frey, Eva Maria; Frodl, Thomas; Frouin, Vincent; Garavan, Hugh; Giddaluru, Sudheer; Glahn, David C.; Godlewska, Beata; Goldstein, Rita Z.; Gollub, Randy L.; Grabe, Hans J.; Grimm, Oliver; Gruber, Oliver; Guadalupe, Tulio; Gur, Raquel E.; Gur, Ruben C.; Göring, Harald H. H.; Hagenaars, Saskia; Hajek, Tomas; Hall, Geoffrey B.; Hall, Jeremy; Hardy, John; Hartman, Catharina A.; Hass, Johanna; Hatton, Sean N.; Haukvik, Unn K.; Hegenscheid, Katrin; Heinz, Andreas; Hickie, Ian B.; Ho, Beng-Choon; Hoehn, David; Hoekstra, Pieter J.; Hollinshead, Marisa; Holmes, Avram J.; Homuth, Georg; Hoogman, Martine; Hong, L. Elliot; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E.; Hwang, Kristy S.; Jack, Clifford R.; Jenkinson, Mark; Johnston, Caroline; Jönsson, Erik G.; Kahn, René S.; Kasperaviciute, Dalia; Kelly, Sinead; Kim, Sungeun; Kochunov, Peter; Koenders, Laura; Krämer, Bernd; Kwok, John B. J.; Lagopoulos, Jim; Laje, Gonzalo; Landen, Mikael; Landman, Bennett A.; Lauriello, John; Lawrie, Stephen M.; Lee, Phil H.; Le Hellard, Stephanie; Lemaître, Herve; Leonardo, Cassandra D.; Li, Chiang-Shan; Liberg, Benny; Liewald, David C.; Liu, Xinmin; Lopez, Lorna M.; Loth, Eva; Lourdusamy, Anbarasu; Luciano, Michelle; Macciardi, Fabio; Machielsen, Marise W. J.; Macqueen, Glenda M.; Malt, Ulrik F.; Mandl, René; Manoach, Dara S.; Martinot, Jean-Luc; Matarin, Mar; Mather, Karen A.; Mattheisen, Manuel; Mattingsdal, Morten; Meyer-Lindenberg, Andreas; McDonald, Colm; McIntosh, Andrew M.; McMahon, Francis J.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Milaneschi, Yuri; Mohnke, Sebastian; Montgomery, Grant W.; Morris, Derek W.; Moses, Eric K.; Mueller, Bryon A.; Muñoz Maniega, Susana; Mühleisen, Thomas W.; Müller-Myhsok, Bertram; Mwangi, Benson; Nauck, Matthias; Nho, Kwangsik; Nichols, Thomas E.; Nilsson, Lars-Göran; Nugent, Allison C.; Nyberg, Lars; Olvera, Rene L.; Oosterlaan, Jaap; Ophoff, Roel A.; Pandolfo, Massimo; Papalampropoulou-Tsiridou, Melina; Papmeyer, Martina; Paus, Tomas; Pausova, Zdenka; Pearlson, Godfrey D.; Penninx, Brenda W.; Peterson, Charles P.; Pfennig, Andrea; Phillips, Mary; Pike, G. Bruce; Poline, Jean-Baptiste; Potkin, Steven G.; Pütz, Benno; Ramasamy, Adaikalavan; Rasmussen, Jerod; Rietschel, Marcella; Rijpkema, Mark; Risacher, Shannon L.; Roffman, Joshua L.; Roiz-Santiañez, Roberto; Romanczuk-Seiferth, Nina; Rose, Emma J.; Royle, Natalie A.; Rujescu, Dan; Ryten, Mina; Sachdev, Perminder S.; Salami, Alireza; Satterthwaite, Theodore D.; Savitz, Jonathan; Saykin, Andrew J.; Scanlon, Cathy; Schmaal, Lianne; Schnack, Hugo G.; Schork, Andrew J.; Schulz, S. Charles; Schür, Remmelt; Seidman, Larry; Shen, Li; Shoemaker, Jody M.; Simmons, Andrew; Sisodiya, Sanjay M.; Smith, Colin; Smoller, Jordan W.; Soares, Jair C.; Sponheim, Scott R.; Sprooten, Emma; Starr, John M.; Steen, Vidar M.; Strakowski, Stephen; Strike, Lachlan; Sussmann, Jessika; Sämann, Philipp G.; Teumer, Alexander; Toga, Arthur W.; Tordesillas-Gutierrez, Diana; Trabzuni, Daniah; Trost, Sarah; Turner, Jessica; van den Heuvel, Martijn; van der Wee, Nic J.; van Eijk, Kristel; van Erp, Theo G. M.; van Haren, Neeltje E. M.; van 't Ent, Dennis; van Tol, Marie-Jose; Valdés Hernández, Maria C.; Veltman, Dick J.; Versace, Amelia; Völzke, Henry; Walker, Robert; Walter, Henrik; Wang, Lei; Wardlaw, Joanna M.; Weale, Michael E.; Weiner, Michael W.; Wen, Wei; Westlye, Lars T.; Whalley, Heather C.; Whelan, Christopher D.; White, Tonya; Winkler, Anderson M.; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Zilles, David; Zwiers, Marcel P.; Thalamuthu, Anbupalam; Schofield, Peter R.; Freimer, Nelson B.; Lawrence, Natalia S.; Drevets, Wayne

    2014-01-01

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience,

  15. The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data

    NARCIS (Netherlands)

    P.M. Thompson (Paul); J.L. Stein; S.E. Medland (Sarah Elizabeth); D.P. Hibar (Derrek); A.A. Vásquez (Arias); M.E. Rentería (Miguel); R. Toro (Roberto); N. Jahanshad (Neda); G. Schumann (Gunter); B. Franke (Barbara); M.J. Wright (Margaret); N.G. Martin (Nicholas); I. Agartz (Ingrid); M. Alda (Martin); S. Alhusaini (Saud); L. Almasy (Laura); K. Alpert (Kathryn); N.C. Andreasen; O.A. Andreassen (Ole); L.G. Apostolova (Liana); K. Appel (Katja); N.J. Armstrong (Nicola); B. Aribisala (Benjamin); M.E. Bastin (Mark); M. Bauer (Michael); C.E. Bearden (Carrie); Ø. Bergmann (Ørjan); E.B. Binder (Elisabeth); J. Blangero (John); H.J. Bockholt; E. Bøen (Erlend); M. Bois (Monique); D.I. Boomsma (Dorret); T. Booth (Tom); I.J. Bowman (Ian); L.B.C. Bralten (Linda); R.M. Brouwer (Rachel); H.G. Brunner; D.G. Brohawn (David); M. Buckner; J.K. Buitelaar (Jan); K. Bulayeva (Kazima); J. Bustillo; V.D. Calhoun (Vince); D.M. Cannon (Dara); R.M. Cantor; M.A. Carless (Melanie); X. Caseras (Xavier); G. Cavalleri (Gianpiero); M.M. Chakravarty (M. Mallar); K.D. Chang (Kiki); C.R.K. Ching (Christopher); A. Christoforou (Andrea); S. Cichon (Sven); V.P. Clark; P. Conrod (Patricia); D. Coppola (Domenico); B. Crespo-Facorro (Benedicto); J.E. Curran (Joanne); M. Czisch (Michael); I.J. Deary (Ian); E.J.C. de Geus (Eco); A. den Braber (Anouk); G. Delvecchio (Giuseppe); C. Depondt (Chantal); L. de Haan (Lieuwe); G.I. de Zubicaray (Greig); D. Dima (Danai); R. Dimitrova (Rali); S. Djurovic (Srdjan); H. Dong (Hongwei); D.J. Donohoe (Dennis); A. Duggirala (Aparna); M.D. Dyer (Matthew); S.M. Ehrlich (Stefan); C.J. Ekman (Carl Johan); T. Elvsåshagen (Torbjørn); L. Emsell (Louise); S. Erk; T. Espeseth (Thomas); J. Fagerness (Jesen); S. Fears (Scott); I. Fedko (Iryna); G. Fernandez (Guillén); S.E. Fisher (Simon); T. Foroud (Tatiana); P.T. Fox (Peter); C. Francks (Clyde); S. Frangou (Sophia); E.M. Frey (Eva Maria); T. Frodl (Thomas); V. Frouin (Vincent); H. Garavan (Hugh); S. Giddaluru (Sudheer); D.C. Glahn (David); B. Godlewska (Beata); R.Z. Goldstein (Rita); R.L. Gollub (Randy); H.J. Grabe (Hans Jörgen); O. Grimm (Oliver); O. Gruber (Oliver); T. Guadalupe (Tulio); R.E. Gur (Raquel); R.C. Gur (Ruben); H.H.H. Göring (Harald); S. Hagenaars (Saskia); T. Hajek (Tomas); G.B. Hall (Garry); J. Hall (Jeremy); J. Hardy (John); C.A. Hartman (Catharina); J. Hass (Johanna); W. Hatton; U.K. Haukvik (Unn); K. Hegenscheid (Katrin); J. Heinz (Judith); I.B. Hickie (Ian); B.C. Ho (Beng ); D. Hoehn (David); P.J. Hoekstra (Pieter); M. Hollinshead (Marisa); A.J. Holmes (Avram); G. Homuth (Georg); M. Hoogman (Martine); L.E. Hong (L.Elliot); N. Hosten (Norbert); J.J. Hottenga (Jouke Jan); H.E. Hulshoff Pol (Hilleke); K.S. Hwang (Kristy); C.R. Jack Jr. (Clifford); S. Jenkinson (Sarah); C. Johnston; E.G. Jönsson (Erik); R.S. Kahn (René); D. Kasperaviciute (Dalia); S. Kelly (Steve); S. Kim (Shinseog); P. Kochunov (Peter); L. Koenders (Laura); B. Krämer (Bernd); J.B.J. Kwok (John); J. Lagopoulos (Jim); G. Laje (Gonzalo); M. Landén (Mikael); B.A. Landman (Bennett); J. Lauriello; S. Lawrie (Stephen); P.H. Lee (Phil); S. Le Hellard (Stephanie); H. Lemaître (Herve); C.D. Leonardo (Cassandra); C.-S. Li (Chiang-shan); B. Liberg (Benny); D.C. Liewald (David C.); X. Liu (Xinmin); L.M. Lopez (Lorna); E. Loth (Eva); A. Lourdusamy (Anbarasu); M. Luciano (Michelle); F. MacCiardi (Fabio); M.W.J. Machielsen (Marise); G.M. MacQueen (Glenda); U.F. Malt (Ulrik); R. Mandl (René); D.S. Manoach (Dara); J.-L. Martinot (Jean-Luc); M. Matarin (Mar); R. Mather; M. Mattheisen (Manuel); M. Mattingsdal (Morten); A. Meyer-Lindenberg; C. McDonald (Colm); A.M. McIntosh (Andrew); F.J. Mcmahon (Francis J); K.L. Mcmahon (Katie); E. Meisenzahl (Eva); I. Melle (Ingrid); Y. Milaneschi (Yuri); S. Mohnke (Sebastian); G.W. Montgomery (Grant); D.W. Morris (Derek W); E.K. Moses (Eric); B.A. Mueller (Bryon ); S. Muñoz Maniega (Susana); T.W. Mühleisen (Thomas); B. Müller-Myhsok (Bertram); B. Mwangi (Benson); M. Nauck (Matthias); K. Nho (Kwangsik); T.E. Nichols (Thomas); L.G. Nilsson; A.C. Nugent (Allison); L. Nyberg (Lisa); R.L. Olvera (Rene); J. Oosterlaan (Jaap); R.A. Ophoff (Roel); M. Pandolfo (Massimo); M. Papalampropoulou-Tsiridou (Melina); M. Papmeyer (Martina); T. Paus (Tomas); Z. Pausova (Zdenka); G. Pearlson (Godfrey); B.W.J.H. Penninx (Brenda); C.P. Peterson (Charles); A. Pfennig (Andrea); M. Phillips (Mary); G.B. Pike (G Bruce); J.B. Poline (Jean Baptiste); S.G. Potkin (Steven); B. Pütz (Benno); A. Ramasamy (Adaikalavan); J. Rasmussen (Jerod); M. Rietschel (Marcella); M. Rijpkema (Mark); S.L. Risacher (Shannon); J.L. Roffman (Joshua); R. Roiz-Santiañez (Roberto); N. Romanczuk-Seiferth (Nina); E.J. Rose (Emma); N.A. Royle (Natalie); D. Rujescu (Dan); M. Ryten (Mina); P.S. Sachdev (Perminder); A. Salami (Alireza); T.D. Satterthwaite (Theodore); J. Savitz (Jonathan); A.J. Saykin (Andrew); C. Scanlon (Cathy); L. Schmaal (Lianne); H. Schnack (Hugo); N.J. Schork (Nicholas); S.C. Schulz (S.Charles); R. Schür (Remmelt); L.J. Seidman (Larry); L. Shen (Li); L. Shoemaker (Lawrence); A. Simmons (Andrew); S.M. Sisodiya (Sanjay); C. Smith (Colin); J.W. Smoller; J.C. Soares (Jair); S.R. Sponheim (Scott); R. Sprooten (Roy); J.M. Starr (John); V.M. Steen (Vidar); S. Strakowski (Stephen); L.T. Strike (Lachlan); J. Sussmann (Jessika); P.G. Sämann (Philipp); A. Teumer (Alexander); A.W. Toga (Arthur); D. Tordesillas-Gutierrez (Diana); D. Trabzuni (Danyah); S. Trost (Sarah); J. Turner (Jessica); M. van den Heuvel (Martijn); N.J. van der Wee (Nic); K.R. van Eijk (Kristel); T.G.M. van Erp (Theo G.); N.E.M. van Haren (Neeltje E.); D. van 't Ent (Dennis); M.J.D. van Tol (Marie-José); M.C. Valdés Hernández (Maria); D.J. Veltman (Dick); A. Versace (Amelia); H. Völzke (Henry); R. Walker (Robert); H.J. Walter (Henrik); L. Wang (Lei); J.M. Wardlaw (J.); M.E. Weale (Michael); M.W. Weiner (Michael); W. Wen (Wei); L.T. Westlye (Lars); H.C. Whalley (Heather); C.D. Whelan (Christopher); T.J.H. White (Tonya); A.M. Winkler (Anderson); K. Wittfeld (Katharina); G. Woldehawariat (Girma); A. Björnsson (Asgeir); D. Zilles (David); M.P. Zwiers (Marcel); A. Thalamuthu (Anbupalam); J.R. Almeida (Jorge); C.J. Schofield (Christopher); N.B. Freimer (Nelson); N.S. Lawrence (Natalia); D.A. Drevets (Douglas)

    2014-01-01

    textabstractThe Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in

  16. Assessment of RAPD Markers to Analyse the Genetic Diversity among Sunflower (Helianthus annuus L. Genotypes

    Directory of Open Access Journals (Sweden)

    Ali Raza

    2018-02-01

    Full Text Available Genetic diversity estimation among different species is an important tool for genetic improvement to maximize the yield, desirable quality, wider adaptation, pest and insect resistance that ultimately boosting traditional plant breeding methods. The most efficient way of diversity estimation is application of molecular markers. In this study, twenty random amplified polymorphic DNA (RAPD primers were utilized to estimate the genetic diversity between ten sunflower genotypes. Overall 227 bands were amplified by 20 primers with an average of 11.35 bands per primer. RAPD data showed 86.34% polymorophic bands and 13.65% of monomorophic bands. Genetic similarity was ranged from 50.22% to 87.22%. The lowest similarity (50.22% was observed between FH-352 and FH-359 and the maximum similarity 87.22% was observed between A-23 and G-46. Polymorphic information content (PIC values were varying from 0.05 to 0.12 with a mean of 0.09. Cluster analysis based on RAPD results displayed two major distinct groups 1 and 2. Group-2 contains FH-352 which was the most diverse genotype, while group-1 consists of few sub groups with all other genotypes. Ample diversity was found in all the genotypes. Present study reveals novel information about sunflower genome which can be used in future studies for sunflower improvement.

  17. Genetic analysis of seed development in Arabidopsis thaliana = [Genetische analyse van de zaadontwikkeling in Arabidopsis thaliana

    NARCIS (Netherlands)

    Leon - Kloosterziel, K.

    1997-01-01


    This thesis deals with the genetic aspects of seed development in Arabidopsisthaliana. Mutants affected in several aspects of seed development and, more specifically, in seed maturation have been isolated by various selection

  18. Integrating genetic, transcriptional, and functional analyses to identify 5 novel genes for atrial fibrillation

    DEFF Research Database (Denmark)

    Sinner, Moritz F; Tucker, Nathan R; Lunetta, Kathryn L

    2014-01-01

    BACKGROUND: Atrial fibrillation (AF) affects >30 million individuals worldwide and is associated with an increased risk of stroke, heart failure, and death. AF is highly heritable, yet the genetic basis for the arrhythmia remains incompletely understood. METHODS AND RESULTS: To identify new AF-re...

  19. Reproducible analyses of microbial food for advanced life support systems

    Science.gov (United States)

    Petersen, Gene R.

    1988-01-01

    The use of yeasts in controlled ecological life support systems (CELSS) for microbial food regeneration in space required the accurate and reproducible analysis of intracellular carbohydrate and protein levels. The reproducible analysis of glycogen was a key element in estimating overall content of edibles in candidate yeast strains. Typical analytical methods for estimating glycogen in Saccharomyces were not found to be entirely aplicable to other candidate strains. Rigorous cell lysis coupled with acid/base fractionation followed by specific enzymatic glycogen analyses were required to obtain accurate results in two strains of Candida. A profile of edible fractions of these strains was then determined. The suitability of yeasts as food sources in CELSS food production processes is discussed.

  20. Used fuel management system architecture and interface analyses

    Energy Technology Data Exchange (ETDEWEB)

    Nutt, Mark [Argonne National Laboratory, Argonne, IL (United States); Howard, Robert; Busch, Ingrid [Oak Ridge National Laboratory, Oak Ridge, TN (United States); Carter, Joe; Delley, Alexcia [Savannah River National Laboratory, Aiken, SC (United States); Hardin, Ernest; Kalinina, Elena [Sandia National Laboratories, Albuquerque NM (United States); Cotton, Thomas [Complex Systems LLC, Washington, DC (United States)

    2013-07-01

    between at-reactor used fuel management, consolidated storage facilities, and disposal facilities, along with the development of supporting logistics simulation tools, have been initiated to provide the U.S. Department of Energy (DOE) and other stakeholders with information regarding the various alternatives for managing used nuclear fuel (UNF) generated by the current fleet of light water reactors operating in the United States. An important UNF management system interface consideration is the need for ultimate disposal of UNF assemblies contained in waste packages that are sized to be compatible with different geologic media. Thermal analyses indicate that waste package sizes for the geologic media under consideration by the Used Fuel Disposition Campaign may be significantly smaller than the canisters being used for on-site dry storage by the nuclear utilities. Therefore, at some point along the UNF disposition pathway, there could be a need to repackage fuel assemblies already loaded and being loaded into the dry storage canisters currently in use. The implications of where and when the packaging or repackaging of commercial UNF will occur are key questions being addressed in this evaluation. The analysis demonstrated that thermal considerations will have a major impact on the operation of the system and that acceptance priority, rates, and facility start dates have significant system implications. (authors)

  1. Used fuel management system architecture and interface analyses

    International Nuclear Information System (INIS)

    Nutt, Mark; Howard, Robert; Busch, Ingrid; Carter, Joe; Delley, Alexcia; Hardin, Ernest; Kalinina, Elena; Cotton, Thomas

    2013-01-01

    between at-reactor used fuel management, consolidated storage facilities, and disposal facilities, along with the development of supporting logistics simulation tools, have been initiated to provide the U.S. Department of Energy (DOE) and other stakeholders with information regarding the various alternatives for managing used nuclear fuel (UNF) generated by the current fleet of light water reactors operating in the United States. An important UNF management system interface consideration is the need for ultimate disposal of UNF assemblies contained in waste packages that are sized to be compatible with different geologic media. Thermal analyses indicate that waste package sizes for the geologic media under consideration by the Used Fuel Disposition Campaign may be significantly smaller than the canisters being used for on-site dry storage by the nuclear utilities. Therefore, at some point along the UNF disposition pathway, there could be a need to repackage fuel assemblies already loaded and being loaded into the dry storage canisters currently in use. The implications of where and when the packaging or repackaging of commercial UNF will occur are key questions being addressed in this evaluation. The analysis demonstrated that thermal considerations will have a major impact on the operation of the system and that acceptance priority, rates, and facility start dates have significant system implications. (authors)

  2. Marshes as "Mountain Tops": Genetic Analyses of the Critically Endangered São Paulo Marsh Antwren (Aves: Thamnophilidae).

    Science.gov (United States)

    de Camargo, Crisley; Gibbs, H Lisle; Costa, Mariellen C; Del-Rio, Glaucia; Silveira, Luís F; Wasko, Adriane P; Francisco, Mercival R

    2015-01-01

    Small populations of endangered species can be impacted by genetic processes such as drift and inbreeding that reduce population viability. As such, conservation genetic analyses that assess population levels of genetic variation and levels of gene flow can provide important information for managing threatened species. The São Paulo Marsh Antwren (Formicivora paludicola) is a recently-described and critically endangered bird from São Paulo State (Brazil) whose total estimated population is around 250-300 individuals, distributed in only 15 isolated marshes around São Paulo metropolitan region. We used microsatellite DNA markers to estimate the population genetic characteristics of the three largest remaining populations of this species all within 60 km of each other. We detected a high and significant genetic structure between all populations (overall FST = 0.103) which is comparable to the highest levels of differentiation ever documented for birds, (e.g., endangered birds found in isolated populations on the tops of African mountains), but also evidence for first-generation immigrants, likely from small local unsampled populations. Effective population sizes were small (between 28.8-99.9 individuals) yet there are high levels of genetic variability within populations and no evidence for inbreeding. Conservation implications of this work are that the high levels of genetic structure suggests that translocations between populations need to be carefully considered in light of possible local adaptation and that remaining populations of these birds should be managed as conservation units that contain both main populations studied here but also small outlying populations which may be a source of immigrants.

  3. Analyses between Reproductive Behavior, Genetic Diversity and Pythium Responsiveness in Zingiber spp. Reveal an Adaptive Significance for Hemiclonality

    Science.gov (United States)

    Thomas, Geethu E.; Geetha, Kiran A.; Augustine, Lesly; Mamiyil, Sabu; Thomas, George

    2016-01-01

    Mode of reproduction is generally considered to have long-range evolutionary implications on population survival. Because sexual reproduction produces genetically diverse genotypes, this mode of reproduction is predicted to positively influence the success potential of offspring in evolutionary arms race with parasites (Red queen) whereas, without segregation and recombination, the obligate asexual multiplication may push a species into extinction due to the steady accumulation of deleterious mutations (Muller’s ratchet). However, the extent of linearity between reproductive strategies, genetic diversity and population fitness, and the contributions of different breeding strategies to population fitness are yet to be understood clearly. Genus Zingiber belonging to the pan-tropic family Zingiberaceae represents a good system to study contributions of different breeding behavior on genetic diversity and population fitness, as this genus comprises species with contrasting breeding systems. In this study, we analyzed breeding behavior, amplified fragment length polymorphism diversity and response to the soft-rot pathogen Pythium aphanidermatum in 18 natural populations of three wild Zingiber spp.: Z. neesanum, Z. nimmonii, and Z. zerumbet, together with the obligately asexual cultivated congener, ginger (Z. officinale). Ginger showed an exceptionally narrow genetic base, and adding to this, all the tested cultivars were uniformly susceptible to soft-rot. Concordant with the postulates of Muller’s ratchet, the background selection may be continuously pushing ginger into the ancestral state, rendering it inefficient in host-pathogen coevolution. Z. neesanum and Z. nimmonii populations were sexual and genetically diverse; however, contrary to Red Queen expectations, the populations were highly susceptible to soft-rot. Z. zerumbet showed a hemiclonal breeding behavior. The populations inhabiting forest understory were large and continuous, sexual and genetically

  4. Using Genetic Algorithms for Building Metrics of Collaborative Systems

    Directory of Open Access Journals (Sweden)

    Cristian CIUREA

    2011-01-01

    Full Text Available he paper objective is to reveal the importance of genetic algorithms in building robust metrics of collaborative systems. The main types of collaborative systems in economy are presented and some characteristics of genetic algorithms are described. A genetic algorithm was implemented in order to determine the local maximum and minimum points of the relative complexity function associated to a collaborative banking system. The intelligent collaborative systems based on genetic algorithms, representing the new generation of collaborative systems, are analyzed and the implementation of auto-adaptive interfaces in a banking application is described.

  5. Optimal support arrangement of piping systems using genetic algorithm

    International Nuclear Information System (INIS)

    Chiba, T.; Okado, S.; Fujii, I.; Itami, K.

    1996-01-01

    The support arrangement is one of the important factors in the design of piping systems. Much time is required to decide the arrangement of the supports. The authors applied a genetic algorithm to find the optimum support arrangement for piping systems. Examples are provided to illustrate the effectiveness of the genetic algorithm. Good results are obtained when applying the genetic algorithm to the actual designing of the piping system

  6. A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

    Science.gov (United States)

    Ramkumar, Hema L; Gudiseva, Harini V; Kishaba, Kameron T; Suk, John J; Verma, Rohan; Tadimeti, Keerti; Thorson, John A; Ayyagari, Radha

    2017-02-01

    To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD). After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. DNA was isolated, and all exons in the gene of interest were analyzed along with 20 base pairs of flanking intronic sequence. Genetic testing was most often performed on ABCA4, CTRP5, ELOV4, BEST1, CRB1, and PRPH2. Pathogenicity of novel sequence changes was predicted by PolyPhen2 and sorting intolerant from tolerant (SIFT). Of the 225 genetic tests performed, 150 were for recessive IRD, and 75 were for dominant IRD. A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD and 19 (26%) probands with dominant IRD. Analysis confirmed 12 (34%) of individuals as carriers of familial mutations associated with IRD. Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (14), BEST1 (2), PRPH2 (1), and TIMP3 (1). Targeted analysis of clinically suspected genes in 225 subjects resulted in a positive molecular diagnosis in 26% of patients with dominant IRD and 59% of patients with recessive IRD. Novel damaging mutations were identified in four genes. Single gene screening is not an ideal method for diagnostic testing given the phenotypic and genetic heterogeneity among IRD cases. High-throughput sequencing of all genes associated with retinal degeneration may be more efficient for molecular diagnosis.

  7. Comparative Genetic Analyses of Human Rhinovirus C (HRV-C) Complete Genome from Malaysia

    Science.gov (United States)

    Khaw, Yam Sim; Chan, Yoke Fun; Jafar, Faizatul Lela; Othman, Norlijah; Chee, Hui Yee

    2016-01-01

    Human rhinovirus-C (HRV-C) has been implicated in more severe illnesses than HRV-A and HRV-B, however, the limited number of HRV-C complete genomes (complete 5′ and 3′ non-coding region and open reading frame sequences) has hindered the in-depth genetic study of this virus. This study aimed to sequence seven complete HRV-C genomes from Malaysia and compare their genetic characteristics with the 18 published HRV-Cs. Seven Malaysian HRV-C complete genomes were obtained with newly redesigned primers. The seven genomes were classified as HRV-C6, C12, C22, C23, C26, C42, and pat16 based on the VP4/VP2 and VP1 pairwise distance threshold classification. Five of the seven Malaysian isolates, namely, 3430-MY-10/C22, 8713-MY-10/C23, 8097-MY-11/C26, 1570-MY-10/C42, and 7383-MY-10/pat16 are the first newly sequenced complete HRV-C genomes. All seven Malaysian isolates genomes displayed nucleotide similarity of 63–81% among themselves and 63–96% with other HRV-Cs. Malaysian HRV-Cs had similar putative immunogenic sites, putative receptor utilization and potential antiviral sites as other HRV-Cs. The genomic features of Malaysian isolates were similar to those of other HRV-Cs. Negative selections were frequently detected in HRV-Cs complete coding sequences indicating that these sequences were under functional constraint. The present study showed that HRV-Cs from Malaysia have diverse genetic sequences but share conserved genomic features with other HRV-Cs. This genetic information could provide further aid in the understanding of HRV-C infection. PMID:27199901

  8. Genetic analyses of nonfluorescent root mutants induced by mutagenesis in soybean

    International Nuclear Information System (INIS)

    Sawada, S.; Palmer, R.G.

    1987-01-01

    Nonfluorescent root mutants in soybean [Glycine max (L.) Merr.] are useful as markers in genetic studies and in tissue culture research. Our objective was to obtain mutagen-induced nonfluorescent root mutants and to conduct genetic studies with them. Thirteen nonfluorescent mutants were detected among 154016 seedlings derived from soybean lines treated with six mutagens. One of these mutants, derived from Williams treated with 20 kR gamma rays, did not correspond to any of the known (standard) nonfluorescent spontaneous mutants. This is the first mutagen-induced nonfluorescent root mutant in soybean. It was assigned Genetic Type Collection no. T285 and the gene symbol fr5 fr5. The fr5 allele was not located on trisomics A, B, or C and was not linked to five chlorophyll-deficient mutants (y9, y11, y12, y13, and y20-k2) or flower color mutant w1. The remaining nonfluorescent root mutants were at the same loci as known spontaneous mutants; i.e., four had the fr1 allele, five had the fr2 allele, and three had the fr4 allele

  9. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.

    Science.gov (United States)

    Thompson, Paul M; Stein, Jason L; Medland, Sarah E; Hibar, Derrek P; Vasquez, Alejandro Arias; Renteria, Miguel E; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J; Martin, Nicholas G; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud; Almasy, Laura; Almeida, Jorge; Alpert, Kathryn; Andreasen, Nancy C; Andreassen, Ole A; Apostolova, Liana G; Appel, Katja; Armstrong, Nicola J; Aribisala, Benjamin; Bastin, Mark E; Bauer, Michael; Bearden, Carrie E; Bergmann, Orjan; Binder, Elisabeth B; Blangero, John; Bockholt, Henry J; Bøen, Erlend; Bois, Catherine; Boomsma, Dorret I; Booth, Tom; Bowman, Ian J; Bralten, Janita; Brouwer, Rachel M; Brunner, Han G; Brohawn, David G; Buckner, Randy L; Buitelaar, Jan; Bulayeva, Kazima; Bustillo, Juan R; Calhoun, Vince D; Cannon, Dara M; Cantor, Rita M; Carless, Melanie A; Caseras, Xavier; Cavalleri, Gianpiero L; Chakravarty, M Mallar; Chang, Kiki D; Ching, Christopher R K; Christoforou, Andrea; Cichon, Sven; Clark, Vincent P; Conrod, Patricia; Coppola, Giovanni; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Deary, Ian J; de Geus, Eco J C; den Braber, Anouk; Delvecchio, Giuseppe; Depondt, Chantal; de Haan, Lieuwe; de Zubicaray, Greig I; Dima, Danai; Dimitrova, Rali; Djurovic, Srdjan; Dong, Hongwei; Donohoe, Gary; Duggirala, Ravindranath; Dyer, Thomas D; Ehrlich, Stefan; Ekman, Carl Johan; Elvsåshagen, Torbjørn; Emsell, Louise; Erk, Susanne; Espeseth, Thomas; Fagerness, Jesen; Fears, Scott; Fedko, Iryna; Fernández, Guillén; Fisher, Simon E; Foroud, Tatiana; Fox, Peter T; Francks, Clyde; Frangou, Sophia; Frey, Eva Maria; Frodl, Thomas; Frouin, Vincent; Garavan, Hugh; Giddaluru, Sudheer; Glahn, David C; Godlewska, Beata; Goldstein, Rita Z; Gollub, Randy L; Grabe, Hans J; Grimm, Oliver; Gruber, Oliver; Guadalupe, Tulio; Gur, Raquel E; Gur, Ruben C; Göring, Harald H H; Hagenaars, Saskia; Hajek, Tomas; Hall, Geoffrey B; Hall, Jeremy; Hardy, John; Hartman, Catharina A; Hass, Johanna; Hatton, Sean N; Haukvik, Unn K; Hegenscheid, Katrin; Heinz, Andreas; Hickie, Ian B; Ho, Beng-Choon; Hoehn, David; Hoekstra, Pieter J; Hollinshead, Marisa; Holmes, Avram J; Homuth, Georg; Hoogman, Martine; Hong, L Elliot; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Hwang, Kristy S; Jack, Clifford R; Jenkinson, Mark; Johnston, Caroline; Jönsson, Erik G; Kahn, René S; Kasperaviciute, Dalia; Kelly, Sinead; Kim, Sungeun; Kochunov, Peter; Koenders, Laura; Krämer, Bernd; Kwok, John B J; Lagopoulos, Jim; Laje, Gonzalo; Landen, Mikael; Landman, Bennett A; Lauriello, John; Lawrie, Stephen M; Lee, Phil H; Le Hellard, Stephanie; Lemaître, Herve; Leonardo, Cassandra D; Li, Chiang-Shan; Liberg, Benny; Liewald, David C; Liu, Xinmin; Lopez, Lorna M; Loth, Eva; Lourdusamy, Anbarasu; Luciano, Michelle; Macciardi, Fabio; Machielsen, Marise W J; Macqueen, Glenda M; Malt, Ulrik F; Mandl, René; Manoach, Dara S; Martinot, Jean-Luc; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mattingsdal, Morten; Meyer-Lindenberg, Andreas; McDonald, Colm; McIntosh, Andrew M; McMahon, Francis J; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Milaneschi, Yuri; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Moses, Eric K; Mueller, Bryon A; Muñoz Maniega, Susana; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Mwangi, Benson; Nauck, Matthias; Nho, Kwangsik; Nichols, Thomas E; Nilsson, Lars-Göran; Nugent, Allison C; Nyberg, Lars; Olvera, Rene L; Oosterlaan, Jaap; Ophoff, Roel A; Pandolfo, Massimo; Papalampropoulou-Tsiridou, Melina; Papmeyer, Martina; Paus, Tomas; Pausova, Zdenka; Pearlson, Godfrey D; Penninx, Brenda W; Peterson, Charles P; Pfennig, Andrea; Phillips, Mary; Pike, G Bruce; Poline, Jean-Baptiste; Potkin, Steven G; Pütz, Benno; Ramasamy, Adaikalavan; Rasmussen, Jerod; Rietschel, Marcella; Rijpkema, Mark; Risacher, Shannon L; Roffman, Joshua L; Roiz-Santiañez, Roberto; Romanczuk-Seiferth, Nina; Rose, Emma J; Royle, Natalie A; Rujescu, Dan; Ryten, Mina; Sachdev, Perminder S; Salami, Alireza; Satterthwaite, Theodore D; Savitz, Jonathan; Saykin, Andrew J; Scanlon, Cathy; Schmaal, Lianne; Schnack, Hugo G; Schork, Andrew J; Schulz, S Charles; Schür, Remmelt; Seidman, Larry; Shen, Li; Shoemaker, Jody M; Simmons, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soares, Jair C; Sponheim, Scott R; Sprooten, Emma; Starr, John M; Steen, Vidar M; Strakowski, Stephen; Strike, Lachlan; Sussmann, Jessika; Sämann, Philipp G; Teumer, Alexander; Toga, Arthur W; Tordesillas-Gutierrez, Diana; Trabzuni, Daniah; Trost, Sarah; Turner, Jessica; Van den Heuvel, Martijn; van der Wee, Nic J; van Eijk, Kristel; van Erp, Theo G M; van Haren, Neeltje E M; van 't Ent, Dennis; van Tol, Marie-Jose; Valdés Hernández, Maria C; Veltman, Dick J; Versace, Amelia; Völzke, Henry; Walker, Robert; Walter, Henrik; Wang, Lei; Wardlaw, Joanna M; Weale, Michael E; Weiner, Michael W; Wen, Wei; Westlye, Lars T; Whalley, Heather C; Whelan, Christopher D; White, Tonya; Winkler, Anderson M; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Zilles, David; Zwiers, Marcel P; Thalamuthu, Anbupalam; Schofield, Peter R; Freimer, Nelson B; Lawrence, Natalia S; Drevets, Wayne

    2014-06-01

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.

  10. Analyses of fixed effects for genetic evaluation of dairy cattle using test day records in Indonesia

    Directory of Open Access Journals (Sweden)

    Asep Anang

    2010-06-01

    Full Text Available Season, rainfall, day of rain, temperature, humidity, year and farm are fixed effects, which have been reported to influence milk yield. Those factors are often linked together to contribute to the variation of milk production. This research is addressed to study the fixed effect factors, including lactation curve, which should be considered for genetic evaluation of milk yield based on test day records of dairy cattle. The data were taken from four different farms, which were PT. Taurus Dairy Farm, BPPT Cikole, Bandang Dairy Farm, and BBPTU Baturraden. In total of 16806 test day records were evaluated, consisting of 9,302 at first and 7,504 at second lactation, respectively. The results indicated that fixed effects were very specific and the influences had different patterns for each farm. Consequently, in a genetic evaluation, these factors such as lactation, temperature, year, day of rain, and humidity need to be evaluated first. Ali-Schaeffer curve represented the most appropriate curve to use in the genetic evaluation of dairy cattle in Indonesia.

  11. Analysing Smart Metering Systems from a Consumer Perspective

    Science.gov (United States)

    Yesudas, Rani

    Many countries are deploying smart meters and Advanced Metering Infrastructure systems as part of demand management and grid modernisation efforts. Several of these projects are facing consumer resistance. The advertised benefits to the consumer appear mainly monetary but detailed analysis shows that financial benefits are hard to realise since the fixed services charges are high. Additionally, the data collected from smart meters have security and privacy implications for the consumer. These projects failed to consider end-users as an important stakeholder group during planning stages resulting in the design and roll-out of expensive systems, which do not demonstrate clear consumer benefits. The overall goal of the research reported in this thesis was to improve the smart metering system to deliver consumer benefits that increase confidence and acceptance of these projects. The smart metering system was examined from an end-user perspective for realistic insights into consumer concerns. Processes from Design Science Research methodology were utilised to conduct this research due to the utilitarian nature of the objective. Consumer segmentation was central to the proposed measures. Initially, a consumer-friendly risk analysis framework was devised, and appropriate requirement elicitation techniques were identified. Control options for smart meter data transfer and storage were explored. Various scenarios were analysed to determine consumer-friendly features in the smart metering system, including control options for smart meter data transfer and storage. Proposed functionalities (billing choices, feedback information and specific configurations to match the needs of different user segments) were studied using the Australian smart metering system. Smart meters vary in capabilities depending on the manufacturer, mode and place of deployment. The research showed that features proposed in this thesis are implementable in smart meters, by examining their applicability

  12. Genetic architecture and bottleneck analyses of Salem Black goat breed based on microsatellite markers

    Directory of Open Access Journals (Sweden)

    A. K. Thiruvenkadan

    2014-09-01

    Full Text Available Aim: The present study was undertaken in Salem Black goat population for genetic analysis at molecular level to exploit the breed for planning sustainable improvement, conservation and utilization, which subsequently can improve the livelihood of its stakeholders. Materials and Methods: Genomic DNA was isolated from blood samples of 50 unrelated Salem Black goats with typical phenotypic features in several villages in the breeding tract and the genetic characterization and bottleneck analysis in Salem Black goat was done using 25 microsatellite markers as recommended by the Food and Agricultural Organization, Rome, Italy. The basic measures of genetic variation were computed using bioinformatic software. To evaluate the Salem Black goats for mutation drift equilibrium, three tests were performed under three different mutation models, viz., infinite allele model (IAM, stepwise mutation model (SMM and two-phase model (TPM and the observed gene diversity (He and expected equilibrium gene diversity (Heq were estimated under different models of microsatellite evolution. Results: The study revealed that the observed number of alleles ranged from 4 (ETH10, ILSTS008 to 17 (BM64444 with a total of 213 alleles and mean of 10.14±0.83 alleles across loci. The overall observed heterozygosity, expected heterozygosity, inbreeding estimate and polymorphism information content values were 0.631±0.041, 0.820±0.024, 0.233±0.044 and 0.786±0.023 respectively indicating high genetic diversity. The average observed gene diversities (He pooled over different markers was 0.829±0.024 and the average expected gene diversities under IAM, TPM and SMM models were 0.769±0.026, 0.808±0.024 and 0.837±0.020 respectively. The number of loci found to exhibit gene diversity excess under IAM, TPM and SMM models were 18, 17 and 12 respectively. Conclusion: All the three statistical tests, viz., sign test, standardized differences test and Wilcoxon sign rank test, revealed

  13. Population Genetic Analyses of the Fungal Pathogen Colletotrichum fructicola on Tea-Oil Trees in China.

    Directory of Open Access Journals (Sweden)

    He Li

    Full Text Available The filamentous fungus Colletotrichum fructicola is found in all five continents and is capable of causing severe diseases in a number of economically important plants such as avocado, fig, cocoa, pear, and tea-oil trees. However, almost nothing is known about its patterns of genetic variation and epidemiology on any of its host plant species. Here we analyzed 167 isolates of C. fructicola obtained from the leaves of tea-oil tree Camellia oleifera at 15 plantations in seven Chinese provinces. Multilocus sequence typing was conducted for all isolates based on DNA sequences at fragments of four genes: the internal transcribed spacers of the nuclear ribosomal RNA gene cluster (539 bp, calmodulin (633 bp, glutamine synthetase (711 bp, and glyceraldehyde-3-phosphate dehydrogenase (190 bp, yielding 3.52%, 0.63%, 8.44%, and 7.89% of single nucleotide polymorphic sites and resulting in 15, 5, 12 and 11 alleles respectively at the four gene fragments in the total sample. The combined allelic information from all four loci identified 53 multilocus genotypes with the most frequent represented by 21 isolates distributed in eight tea-oil plantations in three provinces, consistent with long-distance clonal dispersal. However, despite evidence for clonal dispersal, statistically significant genetic differentiation among geographic populations was detected. In addition, while no evidence of recombination was found within any of the four gene fragments, signatures of recombination were found among the four gene fragments in most geographic populations, consistent with sexual mating of this species in nature. Our study provides the first insights into the population genetics and epidemiology of the important plant fungal pathogen C. fructicola.

  14. GSEVM v.2: MCMC software to analyse genetically structured environmental variance models

    DEFF Research Database (Denmark)

    Ibáñez-Escriche, N; Garcia, M; Sorensen, D

    2010-01-01

    This note provides a description of software that allows to fit Bayesian genetically structured variance models using Markov chain Monte Carlo (MCMC). The gsevm v.2 program was written in Fortran 90. The DOS and Unix executable programs, the user's guide, and some example files are freely available...... for research purposes at http://www.bdporc.irta.es/estudis.jsp. The main feature of the program is to compute Monte Carlo estimates of marginal posterior distributions of parameters of interest. The program is quite flexible, allowing the user to fit a variety of linear models at the level of the mean...

  15. Genetic analyses, phenotypic adaptability and stability in sugarcane genotypes for commercial cultivation in Pernambuco.

    Science.gov (United States)

    Dutra Filho, J A; Junior, T C; Simões Neto, D E

    2015-10-05

    In the present study, we assessed the agro-industrial performance of 22 sugarcane genotypes adaptable to edaphoclimatic conditions in production microregions in the State of Pernambuco, Brazil, and we recommended the commercial cultivation of select genotypes. The variables analyzed were as follows: sucrose percentage in cane juice, tonnage of saccharose per hectare (TPH), sugarcane tonnage per hectare (TCH), fiber, solid soluble contents, total recoverable sugar tonnage (ATR), and total recoverable sugar tonnage per hectare (ATR t/ha). A randomized block design with 4 repeats was used. Combined variance of the experiments, genetic parameter estimates, and environment stratification were analyzed. Phenotypic adaptability and stability were analyzed using the Annicchiarico and Wricke methods and analysis of variance. Genetic gain was estimated using the classic index and sum of ranks. Genotype selection was efficient for TPH, TCH, and ATR t/ha. Genotypes presented a great potential for improvement and a similar response pattern in Litoral Norte and Mata Sul microregions for TPH and TCH and Litoral Norte and Litoral Sul microregions for ATR t/ha. Genotypes SP78-4764, RB813804, and SP79-101 showed better productivity and phenotypic adaptability and stability, according to the Wricke and Annicchiarico methods. These genotypes can be recommended for cultivation in the sugarcane belt in the State of Pernambuco.

  16. Evaluation of Kalman filters and genetic algorithms for delayed-neutron nondestructive assay data analyses

    International Nuclear Information System (INIS)

    Aumeier, S.E.; Forsmann, J.H.

    1998-01-01

    The ability to nondestructively determine the presence and quantity of fissile/fertile nuclei in various matrices is important in several areas of nuclear applications, including international and domestic safeguards, radioactive waste characterization, and nuclear facility operations. An analysis was performed to determine the feasibility of identifying the masses of individual fissionable isotopes from a cumulative delayed-neutron signal resulting form the neutron irradiation of several uranium and plutonium isotopes. The feasibility of two separate data-processing techniques was studied: Kalman filtering and genetic algorithms. The basis of each technique is reviewed, and the structure of the algorithms as applied to the delayed-neutron analysis problem is presented. The results of parametric studies performed using several variants of the algorithms are presented. The effect of including additional constraining information such as additional measurements and known relative isotopic concentration is discussed. The parametric studies were conducted using simulated delayed-neutron data representative of the cumulative delayed-neutron response following irradiation of a sample containing 238 U, 235 U, 239 Pu, and 240 Pu. The results show that by processing delayed-neutron data representative of two significantly different fissile/fertile fission ratios, both Kalman filters and genetic algorithms are capable of yielding reasonably accurate estimates of the mass of individual isotopes contained in a given assay sample

  17. Longitudinal changes in telomere length and associated genetic parameters in dairy cattle analysed using random regression models.

    Directory of Open Access Journals (Sweden)

    Luise A Seeker

    Full Text Available Telomeres cap the ends of linear chromosomes and shorten with age in many organisms. In humans short telomeres have been linked to morbidity and mortality. With the accumulation of longitudinal datasets the focus shifts from investigating telomere length (TL to exploring TL change within individuals over time. Some studies indicate that the speed of telomere attrition is predictive of future disease. The objectives of the present study were to 1 characterize the change in bovine relative leukocyte TL (RLTL across the lifetime in Holstein Friesian dairy cattle, 2 estimate genetic parameters of RLTL over time and 3 investigate the association of differences in individual RLTL profiles with productive lifespan. RLTL measurements were analysed using Legendre polynomials in a random regression model to describe TL profiles and genetic variance over age. The analyses were based on 1,328 repeated RLTL measurements of 308 female Holstein Friesian dairy cattle. A quadratic Legendre polynomial was fitted to the fixed effect of age in months and to the random effect of the animal identity. Changes in RLTL, heritability and within-trait genetic correlation along the age trajectory were calculated and illustrated. At a population level, the relationship between RLTL and age was described by a positive quadratic function. Individuals varied significantly regarding the direction and amount of RLTL change over life. The heritability of RLTL ranged from 0.36 to 0.47 (SE = 0.05-0.08 and remained statistically unchanged over time. The genetic correlation of RLTL at birth with measurements later in life decreased with the time interval between samplings from near unity to 0.69, indicating that TL later in life might be regulated by different genes than TL early in life. Even though animals differed in their RLTL profiles significantly, those differences were not correlated with productive lifespan (p = 0.954.

  18. Towards sustainable innovation : analysing and dealing with systemic problems in innovation systems

    NARCIS (Netherlands)

    Wieczorek, Anna

    2014-01-01

    Technological Innovation System (TIS) perspective became a popular tool to analyse and understand the diffusion of particular, mostly renewable, technologies and their contribution to sustainability transitions. The core of the current TIS studies comprise of the analyses of the emergent structural

  19. Genetic analyses of the human eye colours using a novel objective method for eye colour classification

    DEFF Research Database (Denmark)

    Andersen, Jeppe D.; Johansen, Peter; Harder, Stine

    2013-01-01

    In this study, we present a new objective method for measuring the eye colour on a continuous scale that allows researchers to associate genetic markers with different shades of eye colour. With the use of the custom designed software Digital Iris Analysis Tool (DIAT), the iris was automatically...... and TYR rs1393350) on the eye colour. We evaluated the two published prediction models for eye colour (IrisPlex [1] and Snipper[2]) and compared the predictions with the PIE-scores. We found good concordance with the prediction from individuals typed as HERC2 rs12913832 G. However, both methods had......-score ranged from −1 to 1 (brown to blue). The software eliminated the need for user based interpretation and qualitative eye colour categories. In 94% (570) of 605 analyzed eye images, the iris region was successfully extracted and a PIE-score was calculated. A very high correlation between the PIE...

  20. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.

    Directory of Open Access Journals (Sweden)

    Kozo Nagai

    Full Text Available BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL is a rare disease of infancy or early childhood. To clarify the incidence and subtypes of FHL in Japan, we performed genetic and functional analyses of cytotoxic T lymphocytes (CTLs in Japanese patients with FHL. DESIGN AND METHODS: Among the Japanese children with hemophagocytic lymphohistiocytosis (HLH registered at our laboratory, those with more than one of the following findings were eligible for study entry under a diagnosis of FHL: positive for known genetic mutations, a family history of HLH, and impaired CTL-mediated cytotoxicity. Mutations of the newly identified causative gene for FHL5, STXBP2, and the cytotoxicity and degranulation activity of CTLs in FHL patients, were analyzed. RESULTS: Among 31 FHL patients who satisfied the above criteria, PRF1 mutation was detected in 17 (FHL2 and UNC13D mutation was in 10 (FHL3. In 2 other patients, 3 novel mutations of STXBP2 gene were confirmed (FHL5. Finally, the remaining 2 were classified as having FHL with unknown genetic mutations. In all FHL patients, CTL-mediated cytotoxicity was low or deficient, and degranulation activity was also low or absent except FHL2 patients. In 2 patients with unknown genetic mutations, the cytotoxicity and degranulation activity of CTLs appeared to be deficient in one patient and moderately impaired in the other. CONCLUSIONS: FHL can be diagnosed and classified on the basis of CTL-mediated cytotoxicity, degranulation activity, and genetic analysis. Based on the data obtained from functional analysis of CTLs, other unknown gene(s responsible for FHL remain to be identified.

  1. Landscape genetic analyses reveal fine-scale effects of forest fragmentation in an insular tropical bird.

    Science.gov (United States)

    Khimoun, Aurélie; Peterman, William; Eraud, Cyril; Faivre, Bruno; Navarro, Nicolas; Garnier, Stéphane

    2017-10-01

    Within the framework of landscape genetics, resistance surface modelling is particularly relevant to explicitly test competing hypotheses about landscape effects on gene flow. To investigate how fragmentation of tropical forest affects population connectivity in a forest specialist bird species, we optimized resistance surfaces without a priori specification, using least-cost (LCP) or resistance (IBR) distances. We implemented a two-step procedure in order (i) to objectively define the landscape thematic resolution (level of detail in classification scheme to describe landscape variables) and spatial extent (area within the landscape boundaries) and then (ii) to test the relative role of several landscape features (elevation, roads, land cover) in genetic differentiation in the Plumbeous Warbler (Setophaga plumbea). We detected a small-scale reduction of gene flow mainly driven by land cover, with a negative impact of the nonforest matrix on landscape functional connectivity. However, matrix components did not equally constrain gene flow, as their conductivity increased with increasing structural similarity with forest habitat: urban areas and meadows had the highest resistance values whereas agricultural areas had intermediate resistance values. Our results revealed a higher performance of IBR compared to LCP in explaining gene flow, reflecting suboptimal movements across this human-modified landscape, challenging the common use of LCP to design habitat corridors and advocating for a broader use of circuit theory modelling. Finally, our results emphasize the need for an objective definition of landscape scales (landscape extent and thematic resolution) and highlight potential pitfalls associated with parameterization of resistance surfaces. © 2017 John Wiley & Sons Ltd.

  2. Description of Transmutation Library for Fuel Cycle System Analyses

    International Nuclear Information System (INIS)

    Piet, Steven J.; Bays, Samuel E.; Hoffman, Edward A.

    2010-01-01

    This report documents the Transmutation Library that is used in Fuel Cycle System Analyses. This version replaces the 2008 version.(Piet2008) The Transmutation Library has the following objectives: (1) Assemble past and future transmutation cases for system analyses. (2) For each case, assemble descriptive information such as where the case was documented, the purpose of the calculation, the codes used, source of feed material, transmutation parameters, and the name of files that contain raw or source data. (3) Group chemical elements so that masses in separation and waste processes as calculated in dynamic simulations or spreadsheets reflect current thinking of those processes. For example, the CsSr waste form option actually includes all Group 1A and 2A elements. (4) Provide mass fractions at input (charge) and output (discharge) for each case. (5) Eliminate the need for either ''fission product other'' or ''actinide other'' while conserving mass. Assessments of waste and separation cannot use ''fission product other'' or ''actinide other'' as their chemical behavior is undefined. (6) Catalog other isotope-specific information in one place, e.g., heat and dose conversion factors for individual isotopes. (7) Describe the correlations for how input and output compositions change as a function of UOX burnup (for LWR UOX fuel) or fast reactor (FR) transuranic (TRU) conversion ratio (CR) for either FR-metal or FR-oxide. This document therefore includes the following sections: (1) Explanation of the data set information, i.e., the data that describes each case. In no case are all of the data presented in the Library included in previous documents. In assembling the Library, we return to raw data files to extract the case and isotopic data, into the specified format. (2) Explanation of which isotopes and elements are tracked. For example, the transition metals are tracked via the following: two Zr isotopes, Zr-other, Tc99, Tc-other, two Mo-Ru-Rh-Pd isotopes, Mo

  3. Direct radiocarbon dating and genetic analyses on the purported Neanderthal mandible from the Monti Lessini (Italy).

    Science.gov (United States)

    Talamo, Sahra; Hajdinjak, Mateja; Mannino, Marcello A; Fasani, Leone; Welker, Frido; Martini, Fabio; Romagnoli, Francesca; Zorzin, Roberto; Meyer, Matthias; Hublin, Jean-Jacques

    2016-07-08

    Anatomically modern humans replaced Neanderthals in Europe around 40,000 years ago. The demise of the Neanderthals and the nature of the possible relationship with anatomically modern humans has captured our imagination and stimulated research for more than a century now. Recent chronological studies suggest a possible overlap between Neanderthals and anatomically modern humans of more than 5,000 years. Analyses of ancient genome sequences from both groups have shown that they interbred multiple times, including in Europe. A potential place of interbreeding is the notable Palaeolithic site of Riparo Mezzena in Northern Italy. In order to improve our understanding of prehistoric occupation at Mezzena, we analysed the human mandible and several cranial fragments from the site using radiocarbon dating, ancient DNA, ZooMS and isotope analyses. We also performed a more detailed investigation of the lithic assemblage of layer I. Surprisingly we found that the Riparo Mezzena mandible is not from a Neanderthal but belonged to an anatomically modern human. Furthermore, we found no evidence for the presence of Neanderthal remains among 11 of the 13 cranial and post-cranial fragments re-investigated in this study.

  4. University Students' Knowledge Structures and Informal Reasoning on the Use of Genetically Modified Foods: Multidimensional Analyses

    Science.gov (United States)

    Wu, Ying-Tien

    2013-10-01

    This study aims to provide insights into the role of learners' knowledge structures about a socio-scientific issue (SSI) in their informal reasoning on the issue. A total of 42 non-science major university students' knowledge structures and informal reasoning were assessed with multidimensional analyses. With both qualitative and quantitative analyses, this study revealed that those students with more extended and better-organized knowledge structures, as well as those who more frequently used higher-order information processing modes, were more oriented towards achieving a higher-level informal reasoning quality. The regression analyses further showed that the "richness" of the students' knowledge structures explained 25 % of the variation in their rebuttal construction, an important indicator of reasoning quality, indicating the significance of the role of students' sophisticated knowledge structure in SSI reasoning. Besides, this study also provides some initial evidence for the significant role of the "core" concept within one's knowledge structure in one's SSI reasoning. The findings in this study suggest that, in SSI-based instruction, science instructors should try to identify students' core concepts within their prior knowledge regarding the SSI, and then they should try to guide students to construct and structure relevant concepts or ideas regarding the SSI based on their core concepts. Thus, students could obtain extended and well-organized knowledge structures, which would then help them achieve better learning transfer in dealing with SSIs.

  5. Analyses between Reproductive Behaviour, Genetic Diversity and Pythium Responsiveness in Zingiber spp. reveal an adaptive significance for hemiclonality

    Directory of Open Access Journals (Sweden)

    Geethu Elizabath Thomas

    2016-12-01

    Full Text Available AbstractMode of reproduction is generally considered to have long-range evolutionary implications on population survival. Because sexual reproduction produces genetically diverse genotypes, this mode of reproduction is predicted to positively influence the success potential of offspring in evolutionary arms race with parasites (Red queen whereas, without segregation and recombination, the obligate asexual multiplication may push a species into extinction due to the steady accumulation of deleterious mutations (Muller’s ratchet. However, the extent of linearity between reproductive strategies, genetic diversity and population fitness, and the contributions of different breeding strategies to population fitness are yet to be understood clearly. Genus Zingiber belonging to the pan-tropic family Zingiberaceae represents a good system to study contributions of different breeding behaviour on genetic diversity and population fitness, as this genus comprises species with contrasting breeding systems. In this study, we analyzed breeding behaviour, amplified fragment length polymorphism (AFLP diversity and response to the soft-rot pathogen Pythium aphanidermatum in 18 natural populations of three wild Zingiber spp.: Z. neesanum, Z. nimmonii and Z. zerumbet, together with the obligately asexual cultivated congener, ginger (Z. officinale. Ginger showed an exceptionally narrow genetic base, and adding to this, all the tested cultivars were uniformly susceptible to soft-rot. Concordant with the postulates of Muller’s ratchet, the background selection may be continuously pushing ginger into the ancestral state, rendering it inefficient in host-pathogen coevolution. Z. neesanum and Z. nimmonii populations were sexual and genetically diverse; however, contrary to Red Queen expectations, the populations were highly susceptible to soft-rot. Z. zerumbet showed a hemiclonal breeding behaviour. The populations inhabiting forest understory were large and

  6. Characterizing genetic diversity of contemporary pacific chickens using mitochondrial DNA analyses.

    Directory of Open Access Journals (Sweden)

    Kelsey Needham Dancause

    Full Text Available BACKGROUND: Mitochondrial DNA (mtDNA hypervariable region (HVR sequences of prehistoric Polynesian chicken samples reflect dispersal of two haplogroups--D and E--by the settlers of the Pacific. The distribution of these chicken haplogroups has been used as an indicator of human movement. Recent analyses suggested similarities between prehistoric Pacific and South American chicken samples, perhaps reflecting prehistoric Polynesian introduction of the chicken into South America. These analyses have been heavily debated. The current distribution of the D and E lineages among contemporary chicken populations in the Western Pacific is unclear, but might ultimately help to inform debates about the movements of humans that carried them. OBJECTIVES: We sought to characterize contemporary mtDNA diversity among chickens in two of the earliest settled archipelagos of Remote Oceania, the Marianas and Vanuatu. METHODS: We generated HVR sequences for 43 chickens from four islands in Vanuatu, and for 5 chickens from Guam in the Marianas. RESULTS: Forty samples from Vanuatu and three from Guam were assigned to haplogroup D, supporting this as a Pacific chicken haplogroup that persists in the Western Pacific. Two haplogroup E lineages were observed in Guam and two in Vanuatu. Of the E lineages in Vanuatu, one was identical to prehistoric Vanuatu and Polynesian samples and the other differed by one polymorphism. Contrary to our expectations, we observed few globally distributed domesticate lineages not associated with Pacific chicken dispersal. This might suggest less European introgression of chickens into Vanuatu than expected. If so, the E lineages might represent lineages maintained from ancient Pacific chicken introductions. The Vanuatu sample might thus provide an opportunity to distinguish between maintained ancestral Pacific chicken lineages and replacement by global domesticates through genomic analyses, which could resolve questions of contemporary

  7. Genome-Wide Association Analyses Highlight the Potential for Different Genetic Mechanisms for Litter Size Among Sheep Breeds

    Science.gov (United States)

    Xu, Song-Song; Gao, Lei; Xie, Xing-Long; Ren, Yan-Ling; Shen, Zhi-Qiang; Wang, Feng; Shen, Min; Eyϸórsdóttir, Emma; Hallsson, Jón H.; Kiseleva, Tatyana; Kantanen, Juha; Li, Meng-Hua

    2018-01-01

    Reproduction is an important trait in sheep breeding as well as in other livestock. However, despite its importance the genetic mechanisms of litter size in domestic sheep (Ovis aries) are still poorly understood. To explore genetic mechanisms underlying the variation in litter size, we conducted multiple independent genome-wide association studies in five sheep breeds of high prolificacy (Wadi, Hu, Icelandic, Finnsheep, and Romanov) and one low prolificacy (Texel) using the Ovine Infinium HD BeadChip, respectively. We identified different sets of candidate genes associated with litter size in different breeds: BMPR1B, FBN1, and MMP2 in Wadi; GRIA2, SMAD1, and CTNNB1 in Hu; NCOA1 in Icelandic; INHBB, NF1, FLT1, PTGS2, and PLCB3 in Finnsheep; ESR2 in Romanov and ESR1, GHR, ETS1, MMP15, FLI1, and SPP1 in Texel. Further annotation of genes and bioinformatics analyses revealed that different biological pathways could be involved in the variation in litter size of females: hormone secretion (FSH and LH) in Wadi and Hu, placenta and embryonic lethality in Icelandic, folliculogenesis and LH signaling in Finnsheep, ovulation and preovulatory follicle maturation in Romanov, and estrogen and follicular growth in Texel. Taken together, our results provide new insights into the genetic mechanisms underlying the prolificacy trait in sheep and other mammals, suggesting targets for selection where the aim is to increase prolificacy in breeding projects.

  8. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

    Science.gov (United States)

    Yu, Dongmei; Mathews, Carol A; Scharf, Jeremiah M; Neale, Benjamin M; Davis, Lea K; Gamazon, Eric R; Derks, Eske M; Evans, Patrick; Edlund, Christopher K; Crane, Jacquelyn; Fagerness, Jesen A; Osiecki, Lisa; Gallagher, Patience; Gerber, Gloria; Haddad, Stephen; Illmann, Cornelia; McGrath, Lauren M; Mayerfeld, Catherine; Arepalli, Sampath; Barlassina, Cristina; Barr, Cathy L; Bellodi, Laura; Benarroch, Fortu; Berrió, Gabriel Bedoya; Bienvenu, O Joseph; Black, Donald W; Bloch, Michael H; Brentani, Helena; Bruun, Ruth D; Budman, Cathy L; Camarena, Beatriz; Campbell, Desmond D; Cappi, Carolina; Silgado, Julio C Cardona; Cavallini, Maria C; Chavira, Denise A; Chouinard, Sylvain; Cook, Edwin H; Cookson, M R; Coric, Vladimir; Cullen, Bernadette; Cusi, Daniele; Delorme, Richard; Denys, Damiaan; Dion, Yves; Eapen, Valsama; Egberts, Karin; Falkai, Peter; Fernandez, Thomas; Fournier, Eduardo; Garrido, Helena; Geller, Daniel; Gilbert, Donald L; Girard, Simon L; Grabe, Hans J; Grados, Marco A; Greenberg, Benjamin D; Gross-Tsur, Varda; Grünblatt, Edna; Hardy, John; Heiman, Gary A; Hemmings, Sian M J; Herrera, Luis D; Hezel, Dianne M; Hoekstra, Pieter J; Jankovic, Joseph; Kennedy, James L; King, Robert A; Konkashbaev, Anuar I; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L; Lupoli, Sara; Macciardi, Fabio; Maier, Wolfgang; Manunta, Paolo; Marconi, Maurizio; McCracken, James T; Mesa Restrepo, Sandra C; Moessner, Rainald; Moorjani, Priya; Morgan, Jubel; Muller, Heike; Murphy, Dennis L; Naarden, Allan L; Nurmi, Erika; Ochoa, William Cornejo; Ophoff, Roel A; Pakstis, Andrew J; Pato, Michele T; Pato, Carlos N; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L; Renner, Tobias; Reus, Victor I; Richter, Margaret A; Riddle, Mark A; Robertson, Mary M; Romero, Roxana; Rosário, Maria C; Rosenberg, David; Ruhrmann, Stephan; Sabatti, Chiara; Salvi, Erika; Sampaio, Aline S; Samuels, Jack; Sandor, Paul; Service, Susan K; Sheppard, Brooke; Singer, Harvey S; Smit, Jan H; Stein, Dan J; Strengman, Eric; Tischfield, Jay A; Turiel, Maurizio; Valencia Duarte, Ana V; Vallada, Homero; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Weale, Mike; Weiss, Robert; Wendland, Jens R; Westenberg, Herman G M; Shugart, Yin Yao; Hounie, Ana G; Miguel, Euripedes C; Nicolini, Humberto; Wagner, Michael; Ruiz-Linares, Andres; Cath, Danielle C; McMahon, William; Posthuma, Danielle; Oostra, Ben A; Nestadt, Gerald; Rouleau, Guy A; Purcell, Shaun; Jenike, Michael A; Heutink, Peter; Hanna, Gregory L; Conti, David V; Arnold, Paul D; Freimer, Nelson B; Stewart, S Evelyn; Knowles, James A; Cox, Nancy J; Pauls, David L

    2015-01-01

    Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD. The authors conducted a GWAS in 2,723 cases (1,310 with OCD, 834 with Tourette's syndrome, 579 with OCD plus Tourette's syndrome/chronic tics), 5,667 ancestry-matched controls, and 290 OCD parent-child trios. GWAS summary statistics were examined for enrichment of functional variants associated with gene expression levels in brain regions. Polygenic score analyses were conducted to investigate the genetic architecture within and across the two disorders. Although no individual single-nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels (expression quantitative loci, or eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders. Polygenic score analyses identified a significant polygenic component for OCD (p=2×10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and co-occurring Tourette's syndrome/chronic tics were included in the analysis (p=0.01). Previous work has shown that Tourette's syndrome and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct

  9. Population Genetics of Identifiler System in Malaysia.

    Science.gov (United States)

    Nakamura, Yasutaka; Samejima, Michinaga; Minaguchi, Kiyoshi; Nambiar, Phrabhakaran

    2016-01-01

    Short tandem repeat (STR) polymorphisms were investigated in 341 unrelated Malay individuals (218 males and 123 females) living in or around Kuala Lumpur by using a forensic analysts kit. The following STRs were targeted: D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA. The purpose of this study was to elucidate population genetics in Malaysia and calculate statistical parameters for forensic and anthropological research. Data on these STRs in the target population were obtained and subjected to statistical analysis. Accordance with the Hardy-Weinberg equilibrium was proven for all the loci targeted. The combined power of discrimination was greater than 0.9999999999, indicating that this multiplex system is an excellent tool for forensic casework. The allele frequency in the data were weighed against that in four other local populations (Chinese, Iranian, Belgian, and African). The average coefficient of correlation was strongest in the order of Africa (0.092522), Belgium (0.264822), Iran (0.404363), and China (0.706661). These results are consistent with what is known about the anthropological history of and prehistoric human migration in the Malay region. We believe that these data offer a valuable anthropological resource, being applicable to the statistical evaluation of DNA evidence in human identification, as well as the determination of ethnicity in healthy populations.

  10. A whole genome analyses of genetic variants in two Kelantan Malay individuals.

    Science.gov (United States)

    Wan Juhari, Wan Khairunnisa; Md Tamrin, Nur Aida; Mat Daud, Mohd Hanif Ridzuan; Isa, Hatin Wan; Mohd Nasir, Nurfazreen; Maran, Sathiya; Abdul Rajab, Nur Shafawati; Ahmad Amin Noordin, Khairul Bariah; Nik Hassan, Nik Norliza; Tearle, Rick; Razali, Rozaimi; Merican, Amir Feisal; Zilfalil, Bin Alwi

    2014-12-01

    The sequencing of two members of the Royal Kelantan Malay family genomes will provide insights on the Kelantan Malay whole genome sequences. The two Kelantan Malay genomes were analyzed for the SNP markers associated with thalassemia and Helicobacter pylori infection. Helicobacter pylori infection was reported to be low prevalence in the north-east as compared to the west coast of the Peninsular Malaysia and beta-thalassemia was known to be one of the most common inherited and genetic disorder in Malaysia. By combining SNP information from literatures, GWAS study and NCBI ClinVar, 18 unique SNPs were selected for further analysis. From these 18 SNPs, 10 SNPs came from previous study of Helicobacter pylori infection among Malay patients, 6 SNPs were from NCBI ClinVar and 2 SNPs from GWAS studies. The analysis reveals that both Royal Kelantan Malay genomes shared all the 10 SNPs identified by Maran (Single Nucleotide Polymorphims (SNPs) genotypic profiling of Malay patients with and without Helicobacter pylori infection in Kelantan, 2011) and one SNP from GWAS study. In addition, the analysis also reveals that both Royal Kelantan Malay genomes shared 3 SNP markers; HBG1 (rs1061234), HBB (rs1609812) and BCL11A (rs766432) where all three markers were associated with beta-thalassemia. Our findings suggest that the Royal Kelantan Malays carry the SNPs which are associated with protection to Helicobacter pylori infection. In addition they also carry SNPs which are associated with beta-thalassemia. These findings are in line with the findings by other researchers who conducted studies on thalassemia and Helicobacter pylori infection in the non-royal Malay population.

  11. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette Syndrome and Obsessive-Compulsive Disorder

    Science.gov (United States)

    Yu, Dongmei; Mathews, Carol A.; Scharf, Jeremiah M.; Neale, Benjamin M.; Davis, Lea K.; Gamazon, Eric R.; Derks, Eske M.; Evans, Patrick; Edlund, Christopher K.; Crane, Jacquelyn; Fagerness, Jesen A.; Osiecki, Lisa; Gallagher, Patience; Gerber, Gloria; Haddad, Stephen; Illmann, Cornelia; McGrath, Lauren M.; Mayerfeld, Catherine; Arepalli, Sampath; Barlassina, Cristina; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Berrió, Gabriel Bedoya; Bienvenu, O. Joseph; Black, Donald; Bloch, Michael H.; Brentani, Helena; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Campbell, Desmond D.; Cappi, Carolina; Cardona Silgado, Julio C.; Cavallini, Maria C.; Chavira, Denise A.; Chouinard, Sylvain; Cook, Edwin H.; Cookson, M. R.; Coric, Vladimir; Cullen, Bernadette; Cusi, Daniele; Delorme, Richard; Denys, Damiaan; Dion, Yves; Eapen, Valsama; Egberts, Karin; Falkai, Peter; Fernandez, Thomas; Fournier, Eduardo; Garrido, Helena; Geller, Daniel; Gilbert, Donald; Girard, Simon L.; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Grünblatt, Edna; Hardy, John; Heiman, Gary A.; Hemmings, Sian M.J.; Herrera, Luis D.; Hezel, Dianne M.; Hoekstra, Pieter J.; Jankovic, Joseph; Kennedy, James L.; King, Robert A.; Konkashbaev, Anuar I.; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L.; Lupoli, Sara; Macciardi, Fabio; Maier, Wolfgang; Manunta, Paolo; Marconi, Maurizio; McCracken, James T.; Mesa Restrepo, Sandra C.; Moessner, Rainald; Moorjani, Priya; Morgan, Jubel; Muller, Heike; Murphy, Dennis L.; Naarden, Allan L.; Ochoa, William Cornejo; Ophoff, Roel A.; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlos N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L.; Renner, Tobias; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Romero, Roxana; Rosário, Maria C.; Rosenberg, David; Ruhrmann, Stephan; Sabatti, Chiara; Salvi, Erika; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Service, Susan K.; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Strengman, Eric; Tischfield, Jay A.; Turiel, Maurizio; Valencia Duarte, Ana V.; Vallada, Homero; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Walkup, John; Wang, Ying; Weale, Mike; Weiss, Robert; Wendland, Jens R.; Westenberg, Herman G.M.; Yao, Yin; Hounie, Ana G.; Miguel, Euripedes C.; Nicolini, Humberto; Wagner, Michael; Ruiz-Linares, Andres; Cath, Danielle C.; McMahon, William; Posthuma, Danielle; Oostra, Ben A.; Nestadt, Gerald; Rouleau, Guy A.; Purcell, Shaun; Jenike, Michael A.; Heutink, Peter; Hanna, Gregory L.; Conti, David V.; Arnold, Paul D.; Freimer, Nelson; Stewart, S. Evelyn; Knowles, James A.; Cox, Nancy J.; Pauls, David L.

    2014-01-01

    Obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS) are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. Here, we report a combined genome-wide association study (GWAS) of TS and OCD in 2723 cases (1310 with OCD, 834 with TS, 579 with OCD plus TS/chronic tics (CT)), 5667 ancestry-matched controls, and 290 OCD parent-child trios. Although no individual single nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels, i.e. expression quantitative loci (eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders. Polygenic score analyses identified a significant polygenic component for OCD (p=2×10−4), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, TS had a smaller, non-significant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and TS/CT were included in the analysis (p=0.01). Previous work has shown that TS and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct components to the genetic architectures of TS and OCD. Furthermore, OCD with co-occurring TS/CT may have different underlying genetic susceptibility compared to OCD alone. PMID:25158072

  12. Genetic and morphological analyses of Gracilaria firma and G. changii (Gracilariaceae, Rhodophyta), the commercially important agarophytes in western Pacific.

    Science.gov (United States)

    Ng, Poh-Kheng; Lin, Showe-Mei; Lim, Phaik-Eem; Hurtado, Anicia Q; Phang, Siew-Moi; Yow, Yoon-Yen; Sun, Zhongmin

    2017-01-01

    Many studies classifying Gracilaria species for the exploitation of agarophytes and the development of the agar industry were conducted before the prevalence of molecular tools, resulting in the description of many species based solely on their morphology. Gracilaria firma and G. changii are among the commercially important agarophytes from the western Pacific; both feature branches with basal constrictions that taper toward acute apices. In this study, we contrasted the morpho-anatomical circumscriptions of the two traditionally described species with molecular data from samples that included representatives of G. changii collected from its type locality. Concerted molecular analyses using the rbcL and cox1 gene sequences, coupled with morphological observations of the collections from the western Pacific, revealed no inherent differences to support the treatment of the two entities as distinct taxa. We propose merging G. changii (a later synonym) into G. firma and recognize G. firma based on thallus branches with abrupt basal constrictions that gradually taper toward acute (or sometimes broken) apices, cystocarps consisting of small gonimoblast cells and inconspicuous multinucleate tubular nutritive cells issuing from gonimoblasts extending into the inner pericarp at the cystocarp floor, as well as deep spermatangial conceptacles of the verrucosa-type. The validation of specimens under different names as a single genetic species is useful to allow communication and knowledge transfer among groups from different fields. This study also revealed considerably low number of haplotypes and nucleotide diversity with apparent phylogeographic patterns for G. firma in the region. Populations from the Philippines and Taiwan were divergent from each other as well as from the populations from Malaysia, Thailand, Singapore and Vietnam. Establishment of baseline data on the genetic diversity of this commercially important agarophyte is relevant in the context of cultivation

  13. Replicated landscape genetic and network analyses reveal wide variation in functional connectivity for American pikas.

    Science.gov (United States)

    Castillo, Jessica A; Epps, Clinton W; Jeffress, Mackenzie R; Ray, Chris; Rodhouse, Thomas J; Schwalm, Donelle

    2016-09-01

    Landscape connectivity is essential for maintaining viable populations, particularly for species restricted to fragmented habitats or naturally arrayed in metapopulations and facing rapid climate change. The importance of assessing both structural connectivity (physical distribution of favorable habitat patches) and functional connectivity (how species move among habitat patches) for managing such species is well understood. However, the degree to which functional connectivity for a species varies among landscapes, and the resulting implications for conservation, have rarely been assessed. We used a landscape genetics approach to evaluate resistance to gene flow and, thus, to determine how landscape and climate-related variables influence gene flow for American pikas (Ochotona princeps) in eight federally managed sites in the western United States. We used empirically derived, individual-based landscape resistance models in conjunction with predictive occupancy models to generate patch-based network models describing functional landscape connectivity. Metareplication across landscapes enabled identification of limiting factors for dispersal that would not otherwise have been apparent. Despite the cool microclimates characteristic of pika habitat, south-facing aspects consistently represented higher resistance to movement, supporting the previous hypothesis that exposure to relatively high temperatures may limit dispersal in American pikas. We found that other barriers to dispersal included areas with a high degree of topographic relief, such as cliffs and ravines, as well as streams and distances greater than 1-4 km depending on the site. Using the empirically derived network models of habitat patch connectivity, we identified habitat patches that were likely disproportionately important for maintaining functional connectivity, areas in which habitat appeared fragmented, and locations that could be targeted for management actions to improve functional connectivity

  14. Evolutionary genetic analyses of MEF2C gene: implications for learning and memory in Homo sapiens.

    Science.gov (United States)

    Kalmady, Sunil V; Venkatasubramanian, Ganesan; Arasappa, Rashmi; Rao, Naren P

    2013-02-01

    MEF2C facilitates context-dependent fear conditioning (CFC) which is a salient aspect of hippocampus-dependent learning and memory. CFC might have played a crucial role in human evolution because of its advantageous influence on survival of species. In this study, we analyzed 23 orthologous mammalian gene sequences of MEF2C gene to examine the evidence for positive selection on this gene in Homo sapiens using Phylogenetic Analysis by Maximum Likelihood (PAML) and HyPhy software. Both PAML Bayes Empirical Bayes (BEB) and HyPhy Fixed Effects Likelihood (FEL) analyses supported significant positive selection on 4 codon sites in H. sapiens. Also, haplotter analysis revealed significant ongoing positive selection on this gene in Central European population. The study findings suggest that adaptive selective pressure on this gene might have influenced human evolution. Further research on this gene might unravel the potential role of this gene in learning and memory as well as its pathogenetic effect in certain hippocampal disorders with evolutionary basis like schizophrenia. Copyright © 2012 Elsevier B.V. All rights reserved.

  15. Global Optimization of a Periodic System using a Genetic Algorithm

    Science.gov (United States)

    Stucke, David; Crespi, Vincent

    2001-03-01

    We use a novel application of a genetic algorithm global optimizatin technique to find the lowest energy structures for periodic systems. We apply this technique to colloidal crystals for several different stoichiometries of binary and trinary colloidal crystals. This application of a genetic algorithm is decribed and results of likely candidate structures are presented.

  16. Ecology and Evolution of Diatom-Associated Cyanobacteria Through Genetic Analyses

    OpenAIRE

    Hilton, Jason Andrew

    2014-01-01

    Primary production in a large fraction of the surface ocean communities is limited by the availability of nitrogen (N). Heterocyst-forming cyanobacteria associated with diatoms of the genera Hemiaulus, Rhizosolenia, and Chaetoceros can dominate surface communities throughout the global oceans, and are an important source of N to these communities. Additionally, these unique associations are directly linked to a highly efficient carbon export system. In order to study the nature and evolution ...

  17. Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

    Directory of Open Access Journals (Sweden)

    Ulusal SD

    2017-06-01

    Full Text Available Neurofibromatosis Type I (NF1 is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA and next generation sequencing (NGS for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS.

  18. Sensitivity analyses of fast reactor systems including thorium and uranium

    International Nuclear Information System (INIS)

    Marable, J.H.; Weisbin, C.R.

    1978-01-01

    The Cross Section Evaluation Working Group (CSEWG) has, in conjunction with the development of the fifth version of ENDF/B, assembled new evaluations for 232 Th and 233 U. It is the purpose of this paper to describe briefly some of the more important features of these evaluations relative to ENDF/B-4 to project the change in reactor performance based upon the newer evaluated files and sensitivity coefficients for interesting design problems, and to indicate preliminary results from ongoing uncertainty analyses

  19. ANALYSING SOLAR-WIND HYBRID POWER GENERATING SYSTEM

    Directory of Open Access Journals (Sweden)

    Mustafa ENGİN

    2005-02-01

    Full Text Available In this paper, a solar-wind hybrid power generating, system that will be used for security lighting was designed. Hybrid system was installed and solar cells, wind turbine, battery bank, charge regulators and inverter performance values were measured through the whole year. Using measured values of overall system efficiency, reliability, demanded energy cost per kWh were calculated, and percentage of generated energy according to resources were defined. We also include in the paper a discussion of new strategies to improve hybrid power generating system performance and demanded energy cost per kWh.

  20. Genetic and Cytological Analyses of the Natural Variation of Seed Number per Pod in Rapeseed (Brassica napus L.

    Directory of Open Access Journals (Sweden)

    Yuhua Yang

    2017-11-01

    Full Text Available Seed number is one of the key traits related to plant evolution/domestication and crop improvement/breeding. In rapeseed germplasm, the seed number per pod (SNPP shows a very wide variation from several to nearly 30; however, the underlying causations/mechanisms for this variation are poorly known. In the current study, the genetic and cytological bases for the natural variation of SNPP in rapeseed was firstly and systematically investigated using the representative four high-SNPP and five low-SNPP lines. The results of self- or cross-pollination experiment between the high- and low-SNPP lines showed that the natural variation of SNPP was mainly controlled by maternal effect (mean = 0.79, followed by paternal effect (mean = 0.21. Analysis of the data using diploid seed embryo–cytoplasmic–maternal model further showed that the maternal genotype, embryo, and cytoplasm effects, respectively, explained 47.6, 35.2, and 7.5% of the genetic variance. In addition, the analysis of combining ability showed that for the SNPP of hybrid F1 was mainly determined by the general combining ability of parents (63.0%, followed by special combining ability of parental combination (37.0%. More importantly, the cytological observation showed that the SNPP difference between the high- and low-SNPP lines was attributable to the accumulative differences in its components. Of which, the number of ovules, the proportion of fertile ovules, the proportion of fertile ovules to be fertilized, and the proportion of fertilized ovules to develop into seeds accounted for 30.7, 18.2, 7.1, and 43.9%, respectively. The accordant results of both genetic and cytological analyses provide solid evidences and systematic insights to further understand the mechanisms underlying the natural variation of SNPP, which will facilitate the development of high-yield cultivars in rapeseed.

  1. Understanding ERP system implementation in a hospital by analysing stakeholders

    NARCIS (Netherlands)

    Boonstra, A.; Govers, M.

    Implementing enterprise resource planning (ERP) systems requires significant organisational, as well as technical, changes. These will affect stakeholders with varying perspectives and interests in the system. This is particularly the case in health care, as a feature of this sector is that

  2. Cost/benefit analyses of reactor safety systems

    International Nuclear Information System (INIS)

    1988-01-01

    The study presents a methodology for quantitative assessment of the benefit yielded by the various engineered safety systems of a nuclear reactor containment from the standpoint of their capacity to protect the environment compared to their construction costs. The benefit is derived from an estimate of the possible damage from which the environment is protected, taking account of the probabilities of occurrence of malfunctions and accidents. For demonstration purposes, the methodology was applied to a 1 300-MWe PWR nuclear power station. The accident sequence considered was that of a major loss-of-coolant accident as investigated in detail in the German risk study. After determination of the benefits and cost/benefit ratio for the power plant and the containment systems as designed, the performance characteristics of three subsystems, the leakoff system, annulus exhaust air handling system and spray system, were varied. For this purpose, the parameters which describe these systems in the activity release programme were altered. The costs were simultaneously altered in order to take account of the performance divergences. By varying the performance of the individual sub-systems an optimization in design of these systems can be arrived at

  3. A Coding System for Analysing a Spoken Text Database.

    Science.gov (United States)

    Cutting, Joan

    1994-01-01

    This paper describes a coding system devised to analyze conversations of graduate students in applied linguistics at Edinburgh University. The system was devised to test the hypothesis that as shared knowledge among conversation participants grows, the textual density of in-group members has more cues than that of strangers. The informal…

  4. Experimental analyses of dynamical systems involving shape memory alloys

    DEFF Research Database (Denmark)

    Enemark, Søren; Savi, Marcelo A.; Santos, Ilmar F.

    2015-01-01

    The use of shape memory alloys (SMAs) in dynamical systems has an increasing importance in engineering especially due to their capacity to provide vibration reductions. In this regard, experimental tests are essential in order to show all potentialities of this kind of systems. In this work, SMA ...

  5. On the road to quantitative genetic/genomic analyses of root growth and development components underlying root architecture

    International Nuclear Information System (INIS)

    Draye, X.; Dorlodot, S. de; Lavigne, T.

    2006-01-01

    The quantitative genetic and functional genomic analyses of root development, growth and plasticity will be instrumental in revealing the major regulatory pathways of root architecture. Such knowledge, combined with in-depth consideration of root physiology (e.g. uptake, exsudation), form (space-time dynamics of soil exploration) and ecology (including root environment), will settle the bases for designing root ideotypes for specific environments, for low-input agriculture or for successful agricultural production with minimal impact on the environment. This report summarizes root research initiated in our lab between 2000 and 2004 in the following areas: quantitative analysis of root branching in bananas, high throughput characterisation of root morphology, image analysis, QTL mapping of detailed features of root architecture in rice, and attempts to settle a Crop Root Research Consortium. (author)

  6. Timing of gene expression from different genetic systems in shaping ...

    Indian Academy of Sciences (India)

    2011-12-16

    Dec 16, 2011 ... different genetic systems, nutrition quality traits were mainly controlled by the accumulative or net ... pable of providing valuable information on the expression of ...... protein, carbohydrates, and dietary fiber components.

  7. Sequence Modeling for Analysing Student Interaction with Educational Systems

    DEFF Research Database (Denmark)

    Hansen, Christian; Hansen, Casper; Hjuler, Niklas Oskar Daniel

    2017-01-01

    as exhibiting unproductive student behaviour. Based on our results this student representation is promising, especially for educational systems offering many different learning usages, and offers an alternative to common approaches like modelling student behaviour as a single Markov chain often done......The analysis of log data generated by online educational systems is an important task for improving the systems, and furthering our knowledge of how students learn. This paper uses previously unseen log data from Edulab, the largest provider of digital learning for mathematics in Denmark...

  8. Economic analyses of central solar heating systems with seasonal storage

    Energy Technology Data Exchange (ETDEWEB)

    Lund, P D; Keinonen, R.S.

    1986-10-01

    Economic optimization of large active community solar heating systems with annual thermal storage is discussed. The economic evaluation is based on a thermal performance simulation model employing one hour time steps and on detailed up-date data. Different system configurations and sub-system sizes have been considered. For Northern European weather conditions (60/sup 0/N) and with at least 400-500 residential units, the life-cycle cost of delivered solar heat was 6.5-7.5 c/kWh for 50% fraction of non-purchased energy. For a solar fraction of 70%, the solar energy price would be 8 c/kWh.

  9. Resolution analyses for selecting an appropriate airborne electromagnetic (AEM) system

    DEFF Research Database (Denmark)

    Christensen, N.B.; Lawrie, Ken

    2012-01-01

    is necessary and has to be approached in a pragmatic way involving a range of different aspects. In this paper, we concentrate on the resolution analysis perspective and demonstrate that the inversion analysis must be preferred over the derivative analysis because it takes parameter coupling into account, and...... resolution for a series of models relevant to the survey area by comparing the sum over the data of squares of noise-normalised derivatives. We compare this analysis method with a resolution analysis based on the posterior covariance matrix of an inversion formulation. Both of the above analyses depend......, furthermore, that the derivative analysis generally overestimates the resolution capability. Finally we show that impulse response data are to be preferred over step response data for near-surface resolution....

  10. Aggregated Wind Park Models for Analysing Power System Dynamics

    Energy Technology Data Exchange (ETDEWEB)

    Poeller, Markus; Achilles, Sebastian [DIgSILENT GmbH, Gomaringen (Germany)

    2003-11-01

    The increasing amount of wind power generation in European power systems requires stability analysis considering interaction between wind-farms and transmission systems. Dynamics introduced by dispersed wind generators at the distribution level can usually be neglected. However, large on- and offshore wind farms have a considerable influence to power system dynamics and must definitely be considered for analyzing power system dynamics. Compared to conventional power stations, wind power plants consist of a large number of generators of small size. Therefore, representing every wind generator individually increases the calculation time of dynamic simulations considerably. Therefore, model aggregation techniques should be applied for reducing calculation times. This paper presents aggregated models for wind parks consisting of fixed or variable speed wind generators.

  11. Training Analyses Supporting the Land Warrior and Ground Soldier Systems

    Science.gov (United States)

    2009-07-01

    systems and the resources required for NET. TRAC-WSMR then integrated the NET resources into the final cost estimates for the system...unit with LW and MW expressed in terms of unit force effectiveness, impacts to the DOTMLPF domains, life cycle cost , and ability to mitigate Joint...exposed. This was referred to as indirect view fire ( IVF ). Rounds were the same as the baseline. The M249 firers only executed the IVF . They also

  12. ANALYSING TURKISH INDIVIDUAL PENSION SYSTEM FEES AND RETURNS

    OpenAIRE

    Peker, Ibrahim

    2018-01-01

    This study aims at categorizing, computing and analyzing fees and costs in Turkish Individual Pension System. To this end, net real returns after all costs were computed and these returns were compared with the disclosed fees and returns. Generally in practice, only fund management fees are taken into consideration for calculating net returns and with this method net annual average (geometric) return of the system is calculated as 2.01% for the 2008-2014 period. However, the results of this s...

  13. Experimental benchmark for piping system dynamic response analyses

    International Nuclear Information System (INIS)

    Schott, G.A.; Mallett, R.H.

    1981-01-01

    The scope and status of a piping system dynamics test program are described. A 0.20-m nominal diameter test piping specimen is designed to be representative of main heat transport system piping of LMFBR plants. Attention is given to representing piping restraints. Applied loadings consider component-induced vibration as well as seismic excitation. The principal objective of the program is to provide a benchmark for verification of piping design methods by correlation of predicted and measured responses. Pre-test analysis results and correlation methods are discussed. 3 refs

  14. Experimental benchmark for piping system dynamic-response analyses

    International Nuclear Information System (INIS)

    1981-01-01

    This paper describes the scope and status of a piping system dynamics test program. A 0.20 m(8 in.) nominal diameter test piping specimen is designed to be representative of main heat transport system piping of LMFBR plants. Particular attention is given to representing piping restraints. Applied loadings consider component-induced vibration as well as seismic excitation. The principal objective of the program is to provide a benchmark for verification of piping design methods by correlation of predicted and measured responses. Pre-test analysis results and correlation methods are discussed

  15. Population genetic analyses are consistent with the introduction of Ceramium secundatum (Ceramiaceae, Rhodophyta) to Narragansett Bay, Rhode Island, USA.

    Science.gov (United States)

    Bruce, Meghann R; Saunders, Gary W

    2015-11-01

    During ongoing DNA barcode (COI-5P) surveys of the macroalgal flora along the northwest Atlantic coast, we discovered a population of Ceramium secundatum in Narragansett Bay, Rhode Island, USA. This species is regarded as common and widespread in the northeast Atlantic, ranging from Norway to Morocco, but until now has not been reported from the western Atlantic. Several lines of evidence suggest that C. secundatum may be introduced to Narragansett Bay: (1) despite extensive collecting, specimens have only been obtained from a limited geographic range in the northwest Atlantic; (2) three other nonindigenous seaweed species are reportedly introduced in this region, which is thought to be a consequence of shipping; and (3) this species is introduced to South Africa and New Zealand. To investigate this suspected introduction, we applied population genetic analyses (using the cox2-3 spacer) to compare the Narragansett Bay C. secundatum population to native populations in the Republic of Ireland and the United Kingdom. Collectively, analyses of biogeographical and molecular data indicate that C. secundatum is likely introduced to Narragansett Bay. The implications of this discovery are discussed.

  16. Analysing Student Programs in the PHP Intelligent Tutoring System

    Science.gov (United States)

    Weragama, Dinesha; Reye, Jim

    2014-01-01

    Programming is a subject that many beginning students find difficult. The PHP Intelligent Tutoring System (PHP ITS) has been designed with the aim of making it easier for novices to learn the PHP language in order to develop dynamic web pages. Programming requires practice. This makes it necessary to include practical exercises in any ITS that…

  17. Modifying the Medical Research Council grading system through Rasch analyses

    NARCIS (Netherlands)

    Vanhoutte, Els Karla; Faber, Catharina Gerritdina; van Nes, Sonja Ingrid; Jacobs, Bart Casper; van Doorn, Pieter Antoon; van Koningsveld, Rinske; Cornblath, David Reid; van der Kooi, Anneke Jelly; Cats, Elisabeth Aviva; van den Berg, Leonard Hendrik; Notermans, Nicolette Claudia; van der Pol, Willem Lodewijk; Hermans, Mieke Catharina Elisabeth; van der Beek, Nadine Anna Maria Elisabeth; Gorson, Kenneth Craig; Eurelings, Marijke; Engelsman, Jeroen; Boot, Hendrik; Meijer, Ronaldus Jacobus; Lauria, Giuseppe; Tennant, Alan; Merkies, Ingemar Sergio José; Barreira, A. A.; Bennett, D.; van den Bergh, P. Y. K.; Bril, V.; Devigili, G.; Hadden, R. D.; Hahn, A. F.; Hartung, H.-P.; Hughes, R. A. C.; Illa, I.; Katzberg, H.; Léger, J.-M.; Lewis, R. A.; Lunn, M. P. T.; Nascimento, O. J. M.; Nobile-Orazio, E.; Padua, L.; Pouget, J.; Reilly, M. M.; van Schaik, I.; Smith, B.; de Visser, M.; Walk, D.

    2012-01-01

    The Medical Research Council grading system has served through decades for the evaluation of muscle strength and has been recognized as a cardinal feature of daily neurological, rehabilitation and general medicine examination of patients, despite being respectfully criticized due to the unequal

  18. Modifying the Medical Research Council grading system through Rasch analyses

    NARCIS (Netherlands)

    E.K. Vanhoutte (Els); C.G. Faber (Carin); S.I. van Nes (Sonja); B.C. Jacobs (Bart); P.A. van Doorn (Pieter); R. van Koningsveld (Rinske); D.R. Cornblath (David); A.J. Kooj (Anneke); E.A. Cats (Elisabeth); L.H. van den Berg (Leonard); N.C. Notermans (Nicolette); W.L. van der Pol (Ludo); M.C.E. Hermans; N.A.M.E. van der Beek (Nadine); K.C. Gorson (Kenneth); M. Eurelings (Marijke); L. Engelsman (Lyda); H. Boot (Hendrik); R.J. Meijer (Ron); G. Lauria (Giuseppe); C. Tennant (Christopher); I.S.J. Merkies (Ingemar)

    2012-01-01

    textabstractThe Medical Research Council grading system has served through decades for the evaluation of muscle strength and has been recognized as a cardinal feature of daily neurological, rehabilitation and general medicine examination of patients, despite being respectfully criticized due to the

  19. Conceptual design analyses for Hanford Site deployable remote spectroscopy systems

    International Nuclear Information System (INIS)

    Philipp, B.L.; Reich, F.R.

    1994-09-01

    This document identifies potential remote, NIR spectroscopic waste surface moisture monitoring system design alternatives to be operated inside one of the Hanford Site, high level, nuclear waste storage tanks. Potential tank waste moisture data impacts from the remote NIR signal transfer through high humidity vapor space is evaluated

  20. Genetic mating systems and reproductive natural histories of fishes: lessons for ecology and evolution.

    Science.gov (United States)

    Avise, John C; Jones, Adam G; Walker, DeEtte; DeWoody, J Andrew

    2002-01-01

    Fish species have diverse breeding behaviors that make them valuable for testing theories on genetic mating systems and reproductive tactics. Here we review genetic appraisals of paternity and maternity in wild fish populations. Behavioral phenomena quantified by genetic markers in various species include patterns of multiple mating by both sexes; frequent cuckoldry by males and rare cuckoldry by females in nest-tending species; additional routes to surrogate parentage via nest piracy and egg-thievery; egg mimicry by nest-tending males; brood parasitism by helper males in cooperative breeders; clutch mixing in oral brooders; kinship in schooling fry of broadcast spawners; sperm storage by dams in female-pregnant species; and sex-role reversal, polyandry, and strong sexual selection on females in some male-pregnant species. Additional phenomena addressed by genetic parentage analyses in fishes include clustered mutations, filial cannibalism, and local population size. All results are discussed in the context of relevant behavioral and evolutionary theory.

  1. Genetics Home Reference: systemic lupus erythematosus

    Science.gov (United States)

    ... Twitter Home Health Conditions Systemic lupus erythematosus Systemic lupus erythematosus Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation ...

  2. Performance Analyses of IDEAL Algorithm on Highly Skewed Grid System

    Directory of Open Access Journals (Sweden)

    Dongliang Sun

    2014-03-01

    Full Text Available IDEAL is an efficient segregated algorithm for the fluid flow and heat transfer problems. This algorithm has now been extended to the 3D nonorthogonal curvilinear coordinates. Highly skewed grids in the nonorthogonal curvilinear coordinates can decrease the convergence rate and deteriorate the calculating stability. In this study, the feasibility of the IDEAL algorithm on highly skewed grid system is analyzed by investigating the lid-driven flow in the inclined cavity. It can be concluded that the IDEAL algorithm is more robust and more efficient than the traditional SIMPLER algorithm, especially for the highly skewed and fine grid system. For example, at θ = 5° and grid number = 70 × 70 × 70, the convergence rate of the IDEAL algorithm is 6.3 times faster than that of the SIMPLER algorithm, and the IDEAL algorithm can converge almost at any time step multiple.

  3. Alternative Watson-Crick Synthetic Genetic Systems.

    Science.gov (United States)

    Benner, Steven A; Karalkar, Nilesh B; Hoshika, Shuichi; Laos, Roberto; Shaw, Ryan W; Matsuura, Mariko; Fajardo, Diego; Moussatche, Patricia

    2016-11-01

    In its "grand challenge" format in chemistry, "synthesis" as an activity sets out a goal that is substantially beyond current theoretical and technological capabilities. In pursuit of this goal, scientists are forced across uncharted territory, where they must answer unscripted questions and solve unscripted problems, creating new theories and new technologies in ways that would not be created by hypothesis-directed research. Thus, synthesis drives discovery and paradigm changes in ways that analysis cannot. Described here are the products that have arisen so far through the pursuit of one grand challenge in synthetic biology: Recreate the genetics, catalysis, evolution, and adaptation that we value in life, but using genetic and catalytic biopolymers different from those that have been delivered to us by natural history on Earth. The outcomes in technology include new diagnostic tools that have helped personalize the care of hundreds of thousands of patients worldwide. In science, the effort has generated a fundamentally different view of DNA, RNA, and how they work. Copyright © 2016 Cold Spring Harbor Laboratory Press; all rights reserved.

  4. Time-Delay System Identification Using Genetic Algorithm

    DEFF Research Database (Denmark)

    Yang, Zhenyu; Seested, Glen Thane

    2013-01-01

    Due to the unknown dead-time coefficient, the time-delay system identification turns to be a non-convex optimization problem. This paper investigates the identification of a simple time-delay system, named First-Order-Plus-Dead-Time (FOPDT), by using the Genetic Algorithm (GA) technique. The qual......Due to the unknown dead-time coefficient, the time-delay system identification turns to be a non-convex optimization problem. This paper investigates the identification of a simple time-delay system, named First-Order-Plus-Dead-Time (FOPDT), by using the Genetic Algorithm (GA) technique...

  5. A yeast screening system for simultaneously monitoring multiple genetic endpoints

    International Nuclear Information System (INIS)

    Dixon, M.L.; Mortimer, R.K.

    1986-01-01

    Mutation, recombination, and mitochondrial deficiencies have been proposed to have roles in the carcinogenic process. The authors describe a diploid strain of the yeast Saccharomyces cerevisiae capable of detecting this wide spectrum of genetic changes. The markers used for monitoring these events have been especially well characterized genetically. Ultraviolet light was chosen as a model carcinogenic agent to test this system. In addition to highly significant increases in the frequencies of each genetic change, increases in the absolute numbers of each change indicated induction and not selective survival. The relative amounts of each type of genetic change varied with dose. The wide spectrum of endpoints monitored in the XD83 yeast system may allow the detection of certain carcinogens and other genetically toxic agents which have escaped detection in more limited systems. Since only one strain is required to simultaneously monitor these genetic changes, this assay system should facilitate comparisons of the induced changes and be more efficient than using multiple strains to monitor the same endpoints. (Auth.)

  6. Robust reactor power control system design by genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yoon Joon; Cho, Kyung Ho; Kim, Sin [Cheju National University, Cheju (Korea, Republic of)

    1997-12-31

    The H{sub {infinity}} robust controller for the reactor power control system is designed by use of the mixed weight sensitivity. The system is configured into the typical two-port model with which the weight functions are augmented. Since the solution depends on the weighting functions and the problem is of nonconvex, the genetic algorithm is used to determine the weighting functions. The cost function applied in the genetic algorithm permits the direct control of the power tracking performances. In addition, the actual operating constraints such as rod velocity and acceleration can be treated as design parameters. Compared with the conventional approach, the controller designed by the genetic algorithm results in the better performances with the realistic constraints. Also, it is found that the genetic algorithm could be used as an effective tool in the robust design. 4 refs., 6 figs. (Author)

  7. Robust reactor power control system design by genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Yoon Joon; Cho, Kyung Ho; Kim, Sin [Cheju National University, Cheju (Korea, Republic of)

    1998-12-31

    The H{sub {infinity}} robust controller for the reactor power control system is designed by use of the mixed weight sensitivity. The system is configured into the typical two-port model with which the weight functions are augmented. Since the solution depends on the weighting functions and the problem is of nonconvex, the genetic algorithm is used to determine the weighting functions. The cost function applied in the genetic algorithm permits the direct control of the power tracking performances. In addition, the actual operating constraints such as rod velocity and acceleration can be treated as design parameters. Compared with the conventional approach, the controller designed by the genetic algorithm results in the better performances with the realistic constraints. Also, it is found that the genetic algorithm could be used as an effective tool in the robust design. 4 refs., 6 figs. (Author)

  8. OTTO - the analysing system for spectra ver 9.0

    International Nuclear Information System (INIS)

    Menningen, M.

    1989-10-01

    OTTO is an interactive command system for the analysis of one-dimensional spectra. OTTO includes basic functions for spectra handling, interactive arithmetic with variables and arrays (formula interpreter), as well as numerous graphic functions. In combination with the general functions more complex dedicated routines (physical routines) are available, e.g. to prepare the measured data or to transform them. There are several program versions including different physical routines. The most important feature of OTTO is a very variable fitting routine (least square fit). A large number of fitting functions is available. Additional functions may be supplied by the user. All operations may be executed also in procedures (command files). The procedure processor is capable of a set of control instructions (jumps, loops, if's). Thus extended procedures may be written in the OTTO command-language. OTTO is written in FORTRAN and was impelemented at VAX computers. (orig.) [de

  9. Measurement System Analyses - Gauge Repeatability and Reproducibility Methods

    Science.gov (United States)

    Cepova, Lenka; Kovacikova, Andrea; Cep, Robert; Klaput, Pavel; Mizera, Ondrej

    2018-02-01

    The submitted article focuses on a detailed explanation of the average and range method (Automotive Industry Action Group, Measurement System Analysis approach) and of the honest Gauge Repeatability and Reproducibility method (Evaluating the Measurement Process approach). The measured data (thickness of plastic parts) were evaluated by both methods and their results were compared on the basis of numerical evaluation. Both methods were additionally compared and their advantages and disadvantages were discussed. One difference between both methods is the calculation of variation components. The AIAG method calculates the variation components based on standard deviation (then a sum of variation components does not give 100 %) and the honest GRR study calculates the variation components based on variance, where the sum of all variation components (part to part variation, EV & AV) gives the total variation of 100 %. Acceptance of both methods among the professional society, future use, and acceptance by manufacturing industry were also discussed. Nowadays, the AIAG is the leading method in the industry.

  10. Molecular analyses reveal two geographic and genetic lineages for tapeworms, Taenia solium and Taenia saginata, from Ecuador using mitochondrial DNA.

    Science.gov (United States)

    Solano, Danilo; Navarro, Juan Carlos; León-Reyes, Antonio; Benítez-Ortiz, Washington; Rodríguez-Hidalgo, Richar

    2016-12-01

    Tapeworms Taenia solium and Taenia saginata are the causative agents of taeniasis/cysticercosis. These are diseases with high medical and veterinary importance due to their impact on public health and rural economy in tropical countries. The re-emergence of T. solium as a result of human migration, the economic burden affecting livestock industry, and the large variability of symptoms in several human cysticercosis, encourage studies on genetic diversity, and the identification of these parasites with molecular phylogenetic tools. Samples collected from the Ecuadorian provinces: Loja, Guayas, Manabí, Tungurahua (South), and Imbabura, Pichincha (North) from 2000 to 2012 were performed under Maximum Parsimony analyses and haplotype networks using partial sequences of mitochondrial DNA, cytochrome oxidase subunit I (COI) and NADH subunit I (NDI), from Genbank and own sequences of Taenia solium and Taenia saginata from Ecuador. Both species have shown reciprocal monophyly, which confirms its molecular taxonomic identity. The COI and NDI genes results suggest phylogenetic structure for both parasite species from south and north of Ecuador. In T. solium, both genes gene revealed greater geographic structure, whereas in T. saginata, the variability for both genes was low. In conclusion, COI haplotype networks of T. solium suggest two geographical events in the introduction of this species in Ecuador (African and Asian lineages) and occurring sympatric, probably through the most common routes of maritime trade between the XV-XIX centuries. Moreover, the evidence of two NDI geographical lineages in T. solium from the north (province of Imbabura) and the south (province of Loja) of Ecuador derivate from a common Indian ancestor open new approaches for studies on genetic populations and eco-epidemiology. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Phenotypic and genetic analyses of the varroa sensitive hygienic trait in Russian honey bee (hymenoptera: apidae) colonies.

    Science.gov (United States)

    Kirrane, Maria J; de Guzman, Lilia I; Holloway, Beth; Frake, Amanda M; Rinderer, Thomas E; Whelan, Pádraig M

    2014-01-01

    Varroa destructor continues to threaten colonies of European honey bees. General hygiene, and more specific Varroa Sensitive Hygiene (VSH), provide resistance towards the Varroa mite in a number of stocks. In this study, 32 Russian (RHB) and 14 Italian honey bee colonies were assessed for the VSH trait using two different assays. Firstly, colonies were assessed using the standard VSH behavioural assay of the change in infestation of a highly infested donor comb after a one-week exposure. Secondly, the same colonies were assessed using an "actual brood removal assay" that measured the removal of brood in a section created within the donor combs as a potential alternative measure of hygiene towards Varroa-infested brood. All colonies were then analysed for the recently discovered VSH quantitative trait locus (QTL) to determine whether the genetic mechanisms were similar across different stocks. Based on the two assays, RHB colonies were consistently more hygienic toward Varroa-infested brood than Italian honey bee colonies. The actual number of brood cells removed in the defined section was negatively correlated with the Varroa infestations of the colonies (r2 = 0.25). Only two (percentages of brood removed and reproductive foundress Varroa) out of nine phenotypic parameters showed significant associations with genotype distributions. However, the allele associated with each parameter was the opposite of that determined by VSH mapping. In this study, RHB colonies showed high levels of hygienic behaviour towards Varroa -infested brood. The genetic mechanisms are similar to those of the VSH stock, though the opposite allele associates in RHB, indicating a stable recombination event before the selection of the VSH stock. The measurement of brood removal is a simple, reliable alternative method of measuring hygienic behaviour towards Varroa mites, at least in RHB stock.

  12. Phenotypic and genetic analyses of the varroa sensitive hygienic trait in Russian honey bee (hymenoptera: apidae colonies.

    Directory of Open Access Journals (Sweden)

    Maria J Kirrane

    Full Text Available Varroa destructor continues to threaten colonies of European honey bees. General hygiene, and more specific Varroa Sensitive Hygiene (VSH, provide resistance towards the Varroa mite in a number of stocks. In this study, 32 Russian (RHB and 14 Italian honey bee colonies were assessed for the VSH trait using two different assays. Firstly, colonies were assessed using the standard VSH behavioural assay of the change in infestation of a highly infested donor comb after a one-week exposure. Secondly, the same colonies were assessed using an "actual brood removal assay" that measured the removal of brood in a section created within the donor combs as a potential alternative measure of hygiene towards Varroa-infested brood. All colonies were then analysed for the recently discovered VSH quantitative trait locus (QTL to determine whether the genetic mechanisms were similar across different stocks. Based on the two assays, RHB colonies were consistently more hygienic toward Varroa-infested brood than Italian honey bee colonies. The actual number of brood cells removed in the defined section was negatively correlated with the Varroa infestations of the colonies (r2 = 0.25. Only two (percentages of brood removed and reproductive foundress Varroa out of nine phenotypic parameters showed significant associations with genotype distributions. However, the allele associated with each parameter was the opposite of that determined by VSH mapping. In this study, RHB colonies showed high levels of hygienic behaviour towards Varroa -infested brood. The genetic mechanisms are similar to those of the VSH stock, though the opposite allele associates in RHB, indicating a stable recombination event before the selection of the VSH stock. The measurement of brood removal is a simple, reliable alternative method of measuring hygienic behaviour towards Varroa mites, at least in RHB stock.

  13. Recent insights into the genetic basis of systemic lupus erythematosus

    OpenAIRE

    Moser, Kathy L.; Kelly, Jennifer A.; Lessard, Christopher J.; Harley, John B.

    2009-01-01

    Genetic variation was first shown to be part of the cause of systemic lupus erythematosus (SLE or lupus) in the 1970s with associations in the human leukocyte antigen (HLA) region. Almost four decades later, and with the help of increasingly powerful genetic approaches, more than 25 genes are now known to contribute to the mechanisms that predispose individuals to lupus. Over half of these loci have been discovered in the past two years, underscoring the extraordinary success of recent genome...

  14. Natural history of alkaptonuria revisited: analyses based on scoring systems.

    Science.gov (United States)

    Ranganath, Lakshminarayan R; Cox, Trevor F

    2011-12-01

    Increased circulating homogentisic acid in body fluids occurs in alkaptonuria (AKU) due to lack of enzyme homogentisate dioxygenase leading in turn to conversion of HGA to a pigmented melanin-like polymer, known as ochronosis. The tissue damage in AKU is due to ochronosis. A potential treatment, a drug called nitisinone, to decrease formation of HGA is available. However, deploying nitisinone effectively requires its administration at the most optimal time in the natural history. AKU has a long apparent latent period before overt ochronosis develops. The rate of change of ochronosis and its consequences over time following its recognition has not been fully described in any quantitative manner. Two potential tools are described that were used to quantitate disease burden in AKU. One tool describes scoring the clinical features that includes clinical assessments, investigations and questionnaires in 15 patients with AKU. The second tool describes a scoring system that only includes items obtained from questionnaires in 44 people with AKU. Analysis of the data reveals distinct phases of the disease, a pre-ochronotic phase and an ochronotic phase. The ochronotic phase appears to demonstrate an earlier slower progression followed by a rapidly progressive phase. The rate of change of the disease will have implications for monitoring the course of the disease as well as decide on the most appropriate time that treatment should be started for it to be effective either in prevention or arrest of the disease.

  15. Steady-State-Preserving Simulation of Genetic Regulatory Systems

    Directory of Open Access Journals (Sweden)

    Ruqiang Zhang

    2017-01-01

    Full Text Available A novel family of exponential Runge-Kutta (expRK methods are designed incorporating the stable steady-state structure of genetic regulatory systems. A natural and convenient approach to constructing new expRK methods on the base of traditional RK methods is provided. In the numerical integration of the one-gene, two-gene, and p53-mdm2 regulatory systems, the new expRK methods are shown to be more accurate than their prototype RK methods. Moreover, for nonstiff genetic regulatory systems, the expRK methods are more efficient than some traditional exponential RK integrators in the scientific literature.

  16. The Limitations of Behavior-Genetic Analyses: Comment on McGue, Elkins, Walden, and Iacono (2005)

    Science.gov (United States)

    Greenberg, Gary

    2005-01-01

    This article takes issue with the behavior-genetic analysis of parenting style presented by M. McGue, I. Elkins, B. Walden, and W. G. Iacono. The author argues that the attribution of their findings to inherited genetic effects was without basis because McGue et al. never indicated how those genetic effects manifested themselves. Instead, McGue et…

  17. Analysis of genetic diversity of Sclerotinia sclerotiorum from eggplant by mycelial compatibility, random amplification of polymorphic DNA (RAPD and simple sequence repeat (SSR analyses

    Directory of Open Access Journals (Sweden)

    Fatih Mehmet Tok

    2016-09-01

    Full Text Available The genetic diversity and pathogenicity/virulence among 60 eggplant Sclerotinia sclerotiorum isolates collected from six different geographic regions of Turkey were analysed using mycelial compatibility groupings (MCGs, random amplified polymorphic DNA (RAPD and simple sequence repeat (SSR polymorphism. By MCG tests, the isolates were classified into 22 groups. Out of 22 MCGs, 36% were represented each by a single isolate. The isolates showed great variability for virulence regardless of MCG and geographic origin. Based on the results of RAPD and SSR analyses, 60 S. sclerotiorum isolates representing 22 MCGs were grouped in 2 and 3 distinct clusters, respectively. Analyses using RAPD and SSR markers illustrated that cluster groupings or genetic distance of S. sclerotiorum populations from eggplant were not distinctly relative to the MCG, geographical origin and virulence diversity. The patterns obtained revealed a high heterogeneity of genetic composition and suggested the occurrence of clonal and sexual reproduction of S. sclerotiorum on eggplant in the areas surveyed.

  18. A DNA microarray-based methylation-sensitive (MS)-AFLP hybridization method for genetic and epigenetic analyses.

    Science.gov (United States)

    Yamamoto, F; Yamamoto, M

    2004-07-01

    We previously developed a PCR-based DNA fingerprinting technique named the Methylation Sensitive (MS)-AFLP method, which permits comparative genome-wide scanning of methylation status with a manageable number of fingerprinting experiments. The technique uses the methylation sensitive restriction enzyme NotI in the context of the existing Amplified Fragment Length Polymorphism (AFLP) method. Here we report the successful conversion of this gel electrophoresis-based DNA fingerprinting technique into a DNA microarray hybridization technique (DNA Microarray MS-AFLP). By performing a total of 30 (15 x 2 reciprocal labeling) DNA Microarray MS-AFLP hybridization experiments on genomic DNA from two breast and three prostate cancer cell lines in all pairwise combinations, and Southern hybridization experiments using more than 100 different probes, we have demonstrated that the DNA Microarray MS-AFLP is a reliable method for genetic and epigenetic analyses. No statistically significant differences were observed in the number of differences between the breast-prostate hybridization experiments and the breast-breast or prostate-prostate comparisons.

  19. Summary of Electric Distribution System Analyses with a focus on DERs

    Energy Technology Data Exchange (ETDEWEB)

    Tang, Yingying [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Homer, Juliet S. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); McDermott, Thomas E. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Coddington, Michael [National Renewable Energy Lab. (NREL), Golden, CO (United States); Sigrin, Benjamin [National Renewable Energy Lab. (NREL), Golden, CO (United States); Mather, Barry [National Renewable Energy Lab. (NREL), Golden, CO (United States)

    2017-04-28

    The purpose of this document is to summarize types of electric distribution system analyses along with their application and relative maturity. Particular emphasis is placed on analyses associated with distributed energy resources (DERs). Analyses are separated into the categories of power flow, power quality, fault analysis, dynamic analysis and market analysis. Studies associated with DERs are called out in a separate section.

  20. Population genetics of Setaria viridis, a new model system.

    Science.gov (United States)

    Huang, Pu; Feldman, Maximilian; Schroder, Stephan; Bahri, Bochra A; Diao, Xianmin; Zhi, Hui; Estep, Matt; Baxter, Ivan; Devos, Katrien M; Kellogg, Elizabeth A

    2014-10-01

    An extensive survey of the standing genetic variation in natural populations is among the priority steps in developing a species into a model system. In recent years, green foxtail (Setaria viridis), along with its domesticated form foxtail millet (S. italica), has rapidly become a promising new model system for C4 grasses and bioenergy crops, due to its rapid life cycle, large amount of seed production and small diploid genome, among other characters. However, remarkably little is known about the genetic diversity in natural populations of this species. In this study, we survey the genetic diversity of a worldwide sample of more than 200 S. viridis accessions, using the genotyping-by-sequencing technique. Two distinct genetic groups in S. viridis and a third group resembling S. italica were identified, with considerable admixture among the three groups. We find the genetic variation of North American S. viridis correlates with both geography and climate and is representative of the total genetic diversity in this species. This pattern may reflect several introduction/dispersal events of S. viridis into North America. We also modelled demographic history and show signal of recent population decline in one subgroup. Finally, we show linkage disequilibrium decay is rapid (<45 kb) in our total sample and slow in genetic subgroups. These results together provide an in-depth understanding of the pattern of genetic diversity of this new model species on a broad geographic scale. They also provide key guidelines for on-going and future work including germplasm preservation, local adaptation, crossing designs and genomewide association studies. © 2014 John Wiley & Sons Ltd.

  1. Air data system optimization using a genetic algorithm

    Science.gov (United States)

    Deshpande, Samir M.; Kumar, Renjith R.; Seywald, Hans; Siemers, Paul M., III

    1992-01-01

    An optimization method for flush-orifice air data system design has been developed using the Genetic Algorithm approach. The optimization of the orifice array minimizes the effect of normally distributed random noise in the pressure readings on the calculation of air data parameters, namely, angle of attack, sideslip angle and freestream dynamic pressure. The optimization method is applied to the design of Pressure Distribution/Air Data System experiment (PD/ADS) proposed for inclusion in the Aeroassist Flight Experiment (AFE). Results obtained by the Genetic Algorithm method are compared to the results obtained by conventional gradient search method.

  2. Stabilization of Electromagnetic Suspension System Behavior by Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Abbas Najar Khoda Bakhsh

    2012-07-01

    Full Text Available Electromagnetic suspension system with a nonlinear and unstable behavior, is used in maglev trains. In this paper a linear mathematical model of system is achieved and the state feedback method is used to improve the system stability. The control coefficients are tuned by two different methods, Riccati and a new method based on Genetic algorithm. In this new proposed method, we use Genetic algorithm to achieve the optimum values of control coefficients. The results of the system simulation by Matlab indicate the effectiveness of new proposed system. When a new reference of air gap is needed or a new external force is added, the proposed system could omit the vibration and shake of the train coupe and so, passengers feel more comfortable.

  3. Analysing seed systems performance: the case of oil palm in Bénin

    NARCIS (Netherlands)

    Akpo, E.

    2013-01-01

    Key words: Bénin, genetic quality, growth dynamics, innovation, institutions, multistakeholders

    process, oil palm, perennials, physiological quality, pot size, seed quality, seed

    systems, smallholders, social learning.

    The seed supply system used by smallholder

  4. Genetic and codon usage bias analyses of polymerase genes of equine influenza virus and its relation to evolution.

    Science.gov (United States)

    Bera, Bidhan Ch; Virmani, Nitin; Kumar, Naveen; Anand, Taruna; Pavulraj, S; Rash, Adam; Elton, Debra; Rash, Nicola; Bhatia, Sandeep; Sood, Richa; Singh, Raj Kumar; Tripathi, Bhupendra Nath

    2017-08-23

    Equine influenza is a major health problem of equines worldwide. The polymerase genes of influenza virus have key roles in virus replication, transcription, transmission between hosts and pathogenesis. Hence, the comprehensive genetic and codon usage bias of polymerase genes of equine influenza virus (EIV) were analyzed to elucidate the genetic and evolutionary relationships in a novel perspective. The group - specific consensus amino acid substitutions were identified in all polymerase genes of EIVs that led to divergence of EIVs into various clades. The consistent amino acid changes were also detected in the Florida clade 2 EIVs circulating in Europe and Asia since 2007. To study the codon usage patterns, a total of 281,324 codons of polymerase genes of EIV H3N8 isolates from 1963 to 2015 were systemically analyzed. The polymerase genes of EIVs exhibit a weak codon usage bias. The ENc-GC3s and Neutrality plots indicated that natural selection is the major influencing factor of codon usage bias, and that the impact of mutation pressure is comparatively minor. The methods for estimating host imposed translation pressure suggested that the polymerase acidic (PA) gene seems to be under less translational pressure compared to polymerase basic 1 (PB1) and polymerase basic 2 (PB2) genes. The multivariate statistical analysis of polymerase genes divided EIVs into four evolutionary diverged clusters - Pre-divergent, Eurasian, Florida sub-lineage 1 and 2. Various lineage specific amino acid substitutions observed in all polymerase genes of EIVs and especially, clade 2 EIVs underwent major variations which led to the emergence of a phylogenetically distinct group of EIVs originating from Richmond/1/07. The codon usage bias was low in all the polymerase genes of EIVs that was influenced by the multiple factors such as the nucleotide compositions, mutation pressure, aromaticity and hydropathicity. However, natural selection was the major influencing factor in defining the

  5. How Genes Modulate Patterns of Aging-Related Changes on the Way to 100: Biodemographic Models and Methods in Genetic Analyses of Longitudinal Data

    Science.gov (United States)

    Yashin, Anatoliy I.; Arbeev, Konstantin G.; Wu, Deqing; Arbeeva, Liubov; Kulminski, Alexander; Kulminskaya, Irina; Akushevich, Igor; Ukraintseva, Svetlana V.

    2016-01-01

    Background and Objective To clarify mechanisms of genetic regulation of human aging and longevity traits, a number of genome-wide association studies (GWAS) of these traits have been performed. However, the results of these analyses did not meet expectations of the researchers. Most detected genetic associations have not reached a genome-wide level of statistical significance, and suffered from the lack of replication in the studies of independent populations. The reasons for slow progress in this research area include low efficiency of statistical methods used in data analyses, genetic heterogeneity of aging and longevity related traits, possibility of pleiotropic (e.g., age dependent) effects of genetic variants on such traits, underestimation of the effects of (i) mortality selection in genetically heterogeneous cohorts, (ii) external factors and differences in genetic backgrounds of individuals in the populations under study, the weakness of conceptual biological framework that does not fully account for above mentioned factors. One more limitation of conducted studies is that they did not fully realize the potential of longitudinal data that allow for evaluating how genetic influences on life span are mediated by physiological variables and other biomarkers during the life course. The objective of this paper is to address these issues. Data and Methods We performed GWAS of human life span using different subsets of data from the original Framingham Heart Study cohort corresponding to different quality control (QC) procedures and used one subset of selected genetic variants for further analyses. We used simulation study to show that approach to combining data improves the quality of GWAS. We used FHS longitudinal data to compare average age trajectories of physiological variables in carriers and non-carriers of selected genetic variants. We used stochastic process model of human mortality and aging to investigate genetic influence on hidden biomarkers of aging

  6. Mapping genetic influences on the corticospinal motor system in humans

    DEFF Research Database (Denmark)

    Cheeran, B J; Ritter, C; Rothwell, J C

    2009-01-01

    of the contribution of single nucleotide polymorphisms (SNP) and variable number tandem repeats. In humans, the corticospinal motor system is essential to the acquisition of fine manual motor skills which require a finely tuned coordination of activity in distal forelimb muscles. Here we review recent brain mapping......It is becoming increasingly clear that genetic variations account for a certain amount of variance in the acquisition and maintenance of different skills. Until now, several levels of genetic influences were examined, ranging from global heritability estimates down to the analysis...... studies that have begun to explore the influence of functional genetic variation as well as mutations on function and structure of the human corticospinal motor system, and also the clinical implications of these studies. Transcranial magnetic stimulation of the primary motor hand area revealed...

  7. Safety systems I/C equipment reliability analyses of the Kozloduy NPP units 3 and 4

    Energy Technology Data Exchange (ETDEWEB)

    Halev, G; Christov, N [Risk Engineering Ltd., Sofia (Bulgaria)

    1996-12-31

    The purpose of the analysis is to assess the safety systems I/C equipment reliability. The assessment includes: quantification of the safety systems unavailability due to component failures; definition of the minimal cut sets leading to the analysed safety systems failure; quantification of the I/C equipment importance measures of the dominant contribution components. The safety systems I/C equipment reliability has been analysed using PSAPACK (a code for probabilistic safety assessment). Fault trees for the following safety systems of the Kozloduy-3 and Kozloduy-4 reactors have been constructed: neutron flow control equipment, reactor protection system, main coolant pumps, pressurizer safety valves `Sempell`, steam dump systems, spray system, low pressure injection system, emergency feeding water system, essential service water system. THree separate reports have been issued containing the performed analyses and results. 1 ref.

  8. Mitochondrial DNA Analyses Indicate High Diversity, Expansive Population Growth and High Genetic Connectivity of Vent Copepods (Dirivultidae) across Different Oceans.

    Science.gov (United States)

    Gollner, Sabine; Stuckas, Heiko; Kihara, Terue C; Laurent, Stefan; Kodami, Sahar; Martinez Arbizu, Pedro

    2016-01-01

    Communities in spatially fragmented deep-sea hydrothermal vents rich in polymetallic sulfides could soon face major disturbance events due to deep-sea mineral mining, such that unraveling patterns of gene flow between hydrothermal vent populations will be an important step in the development of conservation policies. Indeed, the time required by deep-sea populations to recover following habitat perturbations depends both on the direction of gene flow and the number of migrants available for re-colonization after disturbance. In this study we compare nine dirivultid copepod species across various geological settings. We analyze partial nucleotide sequences of the mtCOI gene and use divergence estimates (FST) and haplotype networks to infer intraspecific population connectivity between vent sites. Furthermore, we evaluate contrasting scenarios of demographic population expansion/decline versus constant population size (using, for example, Tajima's D). Our results indicate high diversity, population expansion and high connectivity of all copepod populations in all oceans. For example, haplotype diversity values range from 0.89 to 1 and FST values range from 0.001 to 0.11 for Stygiopontius species from the Central Indian Ridge, Mid Atlantic Ridge, East Pacific Rise, and Eastern Lau Spreading Center. We suggest that great abundance and high site occupancy by these species favor high genetic diversity. Two scenarios both showed similarly high connectivity: fast spreading centers with little distance between vent fields and slow spreading centers with greater distance between fields. This unexpected result may be due to some distinct frequency of natural disturbance events, or to aspects of individual life histories that affect realized rates of dispersal. However, our statistical performance analyses showed that at least 100 genomic regions should be sequenced to ensure accurate estimates of migration rate. Our demography parameters demonstrate that dirivultid

  9. Mouse and human genetic analyses associate kalirin with ventral striatal activation during impulsivity and with alcohol misuse

    Directory of Open Access Journals (Sweden)

    Yolanda ePeña-Oliver

    2016-04-01

    Full Text Available Impulsivity is associated with a spectrum of psychiatric disorders including drug addiction. To investigate genetic associations with impulsivity and initiation of drug taking, we took a two-step approach. First, we identified genes whose expression level in prefrontal cortex, striatum and accumbens were associated with impulsive behaviour in the 5-choice serial reaction time task across 10 BXD recombinant inbred (BXD RI mouse strains and their progenitor C57BL/6J and DBA2/J strains. Behavioural data were correlated with regional gene expression using GeneNetwork (www.genenetwork.org, to identify 44 genes whose probability of association with impulsivity exceeded a false discovery rate of <0.05. We then interrogated the IMAGEN database of 1423 adolescents for potential associations of SNPs in human homologues of those genes identified in the mouse study, with brain activation during impulsive performance in the Monetary Incentive Delay task, and with novelty seeking scores from the Temperament and Character Inventory, as well as alcohol-experience. There was a significant overall association between the human homologues of impulsivity-related genes and percentage of premature responses in the MID task and with fMRI BOLD-response in ventral striatum (VS during reward anticipation. In contrast, no significant association was found between the polygenic scores and anterior cingulate cortex activation. Univariate association analyses revealed that the G allele (major of the intronic SNP rs6438839 in the KALRN gene was significantly associated with increased VS activation. Additionally, the A-allele (minor of KALRN intronic SNP rs4634050, belonging to the same haplotype block, was associated with increased frequency of binge drinking.

  10. Founder effects and genetic population structure of brown trout (Salmo trutta) in a Danish river system

    DEFF Research Database (Denmark)

    Hansen, Michael Møller; Mensberg, Karen-Lise Dons

    1996-01-01

    The influence of founder effects on the genetic population structure of brown trout (Salmo trutta) was studied in a small Danish river system. Samples of trout from seven locations were analysed by allozyme electrophoresis and mitochondrial DNA restriction fragment length polymorphism analysis....... For comparison, allozyme data from other Danish trout populations and mtDNA data from two hatchery strains were included. Genetic differentiation among populations was found to be small but significant. Pairwise tests for homogeneity of allele and haplotype frequencies between samples showed that significance...... simulations of the influence of founder effects on mitochondrial DNA differentiation and variability showed that the observed divergence could be due either to natural founder effects or to a genetic contribution by hatchery trout. However, the allozyme results pointed towards natural founder effects...

  11. Genetic variation in growth, carbon isotope discrimination, and foliar N concentration in Picea mariana: analyses from a half-diallel mating design using field-grown trees

    Science.gov (United States)

    Kurt H. Johnsen; Lawrence B. Flanagan; Dudley A. Huber; John E. Major

    1999-01-01

    The authors performed genetic analyses of growth, carbon isotope discrimination (?13C), and foliar N concentration using a half-diallel subset of a 7 × 7 complete diallel planted on three sites ranging in water availability. Trees were 22 years old. Heritabilities; general and...

  12. Systems genetics of complex diseases using RNA-sequencing methods

    DEFF Research Database (Denmark)

    Mazzoni, Gianluca; Kogelman, Lisette; Suravajhala, Prashanth

    2015-01-01

    Next generation sequencing technologies have enabled the generation of huge quantities of biological data, and nowadays extensive datasets at different ‘omics levels have been generated. Systems genetics is a powerful approach that allows to integrate different ‘omics level and understand the bio...

  13. Time-Delay System Identification Using Genetic Algorithm

    DEFF Research Database (Denmark)

    Yang, Zhenyu; Seested, Glen Thane

    2013-01-01

    problem through an identification approach using the real coded Genetic Algorithm (GA). The desired FOPDT/SOPDT model is directly identified based on the measured system's input and output data. In order to evaluate the quality and performance of this GA-based approach, the proposed method is compared...

  14. System control fuzzy neural sewage pumping stations using genetic algorithms

    Directory of Open Access Journals (Sweden)

    Владлен Николаевич Кузнецов

    2015-06-01

    Full Text Available It is considered the system of management of sewage pumping station with regulators based on a neuron network with fuzzy logic. Linguistic rules for the controller based on fuzzy logic, maintaining the level of effluent in the receiving tank within the prescribed limits are developed. The use of genetic algorithms for neuron network training is shown.

  15. Genome Analyses of Icelandic Strains of Sulfolobus islandicus, Model Organisms for Genetic and Virus-Host Interaction Studies

    DEFF Research Database (Denmark)

    Guo, Li; Brügger, Kim; Liu, Chao

    2011-01-01

    The genomes of two Sulfolobus islandicus strains obtained from Icelandic solfataras were sequenced and analyzed. Strain REY15A is a host for a versatile genetic toolbox. It exhibits a genome of minimal size, is stable genetically, and is easy to grow and manipulate. Strain HVE10/4 shows a broad h...

  16. Genetic analyses of historic and modern marbled murrelets suggest decoupling of migration and gene flow after habitat fragmentation

    Science.gov (United States)

    M. Zachariah Peery; Laurie A. Hall; Sellas. Anna; Steven R. Beissinger; Craig Moritz; Martine Berube; Martin G. Raphael; S. Kim Nelson; Richard T. Golightly; Laura McFarlane-Tranquilla; Scott H. Newman; Per J. Palsboll

    2009-01-01

    The dispersal of individuals among fragmented populations is generally thought to prevent genetic and demographic isolation, and ultimately reduce extinction risk. In this study, we show that a century of reduction in coastal old-growth forests, as well as a number of other environmental factors, has probably resulted in the genetic divergence of marbled murrelets (...

  17. Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

    NARCIS (Netherlands)

    A. Okbay (Aysu); Baselmans, B.M.L. (Bart M.L.); J.E. de Neve (Jan-Emmanuel); P. Turley (Patrick); M. Nivard (Michel); Fontana, M.A. (Mark Alan); Meddens, S.F.W. (S. Fleur W.); Linnér, R.K. (Richard Karlsson); Rietveld, C.A. (Cornelius A); J. Derringer; J. Gratten (Jacob); J.J. Lee (James J.); Liu, J.Z. (Jimmy Z); R. de Vlaming (Ronald); SAhluwalia, T. (Tarunveer); Buchwald, J. (Jadwiga); A. Cavadino (Alana); A.C. Frazier-Wood (Alexis C.); Furlotte, N.A. (Nicholas A); Garfield, V. (Victoria); Geisel, M.H. (Marie Henrike); J.R. Gonzalez (Juan R.); Haitjema, S. (Saskia); R. Karlsson (Robert); Der Laan, S.W. (Sander Wvan); K.-H. Ladwig (Karl-Heinz); J. Lahti (Jari); S.J. van der Lee (Sven); P.A. Lind (Penelope); Liu, T. (Tian); Matteson, L. (Lindsay); E. Mihailov (Evelin); M. Miller (Mike); CMinica, C. (Camelia); MNolte, I. (Ilja); D.O. Mook-Kanamori (Dennis); P.J. van der Most (Peter); C. Oldmeadow (Christopher); Y. Qian (Yong); O. Raitakari (Olli); R. Rawal (R.); A. Realo; Rueedi, R. (Rico); Schmidt, B. (Börge); A.V. Smith (Albert Vernon); E. Stergiakouli (Evangelia); T. Tanaka (Toshiko); K.D. Taylor (Kent); Wedenoja, J. (Juho); Wellmann, J. (Juergen); H.J. Westra (Harm-Jan); MWillems, S. (Sara); Zhao, W. (Wei); L.C. Study (LifeLines Cohort); N. Amin (Najaf); Bakshi, A. (Andrew); P.A. Boyle (Patricia); Cherney, S. (Samantha); Cox, S.R. (Simon R); G. Davies (Gail); O.S.P. Davis (Oliver S.); J. Ding (Jun); N. Direk (Nese); Eibich, P. (Peter); R. Emeny (Rebecca); Fatemifar, G. (Ghazaleh); J.D. Faul; L. Ferrucci (Luigi); A.J. Forstner (Andreas); C. Gieger (Christian); Gupta, R. (Richa); T.B. Harris (Tamara); J.M. Harris (Juliette); E.G. Holliday (Elizabeth); J.J. Hottenga (Jouke Jan); P.L. de Jager (Philip); M. Kaakinen (Marika); E. Kajantie (Eero); Karhunen, V. (Ville); I. Kolcic (Ivana); M. Kumari (Meena); L.J. Launer (Lenore); L. Franke (Lude); Li-Gao, R. (Ruifang); Koini, M. (Marisa); A. Loukola (Anu); P. Marques-Vidal; G.W. Montgomery (Grant); M. Mosing (Miriam); L. Paternoster (Lavinia); A. Pattie (Alison); K. Petrovic (Katja); Pulkki-R'back, L. (Laura); L. Quaye (Lydia); R'ikkönen, K. (Katri); I. Rudan (Igor); R. Scott (Rodney); J.A. Smith (Jennifer A); A.R. Sutin; Trzaskowski, M. (Maciej); Vinkhuyze, A.E. (Anna E.); L. Yu (Lei); D. Zabaneh (Delilah); J. Attia (John); D.A. Bennett (David A.); Berger, K. (Klaus); L. Bertram (Lars); D.I. Boomsma (Dorret); H. Snieder (Harold); Chang, S.-C. (Shun-Chiao); F. Cucca (Francesco); I.J. Deary (Ian J.); C.M. van Duijn (Cornelia); K. Hagen (Knut); U. Bültmann (Ute); E.J.C. de Geus (Eco); P.J.F. Groenen (Patrick); V. Gudnason (Vilmundur); T. Hansen (T.); Hartman, C.A. (Catharine A); C.M.A. Haworth (Claire M.); C. Hayward (Caroline); A.C. Heath (Andrew C.); D.A. Hinds (David A.); E. Hypponen (Elina); W.G. Iacono (William); M.-R. Jarvelin (Marjo-Riitta); K.-H. JöCkel (Karl-Heinz); J. Kaprio (Jaakko); S.L.R. Kardia (Sharon); Keltikangas-J'rvinen, L. (Liisa); P. Kraft (Peter); Kubzansky, L.D. (Laura D.); Lehtim'ki, T. (Terho); P.K. Magnusson (Patrik); N.G. Martin (Nicholas); M. McGue (Matt); A. Metspalu (Andres); M. Mills (Melinda); R. de Mutsert (Reneé); A.J. Oldehinkel (Albertine); G. Pasterkamp (Gerard); N.L. Pedersen (Nancy); R. Plomin (Robert); O. Polasek (Ozren); C. Power (Christopher); S.S. Rich (Stephen); F.R. Rosendaal (Frits); H.M. den Ruijter (Hester ); Schlessinger, D. (David); R. Schmidt (Reinhold); R. Svento (Rauli); R. Schmidt (Reinhold); B.Z. Alizadeh (Behrooz); T.I.A. Sørensen (Thorkild); DSpector, T. (Tim); Steptoe, A. (Andrew); A. Terracciano; A.R. Thurik (Roy); N.J. Timpson (Nicholas); H.W. Tiemeier (Henning); A.G. Uitterlinden (André); P. Vollenweider (Peter); Wagner, G.G. (Gert G.); D.R. Weir (David); J. Yang (Joanna); Conley, D.C. (Dalton C.); G.D. Smith; Hofman, A. (Albert); M. Johannesson (Magnus); D. Laibson (David); S.E. Medland (Sarah Elizabeth); M.N. Meyer (Michelle N.); Pickrell, J.K. (Joseph K.); Esko, T. (T'nu); R.F. Krueger; J.P. Beauchamp (Jonathan); Ph.D. Koellinger (Philipp); D.J. Benjamin (Daniel J.); M. Bartels (Meike); D. Cesarini (David)

    2016-01-01

    textabstractVery few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data.

  18. Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

    NARCIS (Netherlands)

    Okbay, Aysu; Baselmans, Bart M L; De Neve, Jan-Emmanuel; Turley, Patrick; Nivard, Michel G; Fontana, Mark Alan; Meddens, S Fleur W; Linnér, Richard Karlsson; Rietveld, Cornelius A; Derringer, Jaime; Gratten, Jacob; Lee, James J; Liu, Jimmy Z; de Vlaming, Ronald; Ahluwalia, Tarunveer S; Buchwald, Jadwiga; Cavadino, Alana; Frazier-Wood, Alexis C; Furlotte, Nicholas A; Garfield, Victoria; Geisel, Marie Henrike; Gonzalez, Juan R; Haitjema, Saskia; Karlsson, Robert; van der Laan, Sander W; Ladwig, Karl-Heinz; Lahti, Jari; van der Lee, Sven J; Lind, Penelope A; Liu, Tian; Matteson, Lindsay; Mihailov, Evelin; Miller, Michael B; Minica, Camelia C; Nolte, Ilja M; Mook-Kanamori, Dennis; van der Most, Peter J; Oldmeadow, Christopher; Qian, Yong; Raitakari, Olli; Rawal, Rajesh; Realo, Anu; Rueedi, Rico; Schmidt, Börge; Smith, Albert V; Stergiakouli, Evie; Tanaka, Toshiko; Taylor, Kent; Wedenoja, Juho; Wellmann, Juergen; Westra, Harm-Jan; Willems, Sara M; Zhao, Wei; Amin, Najaf; Bakshi, Andrew; Boyle, Patricia A; Cherney, Samantha; Cox, Simon R; Davies, Gail; Davis, Oliver S P; Ding, Jun; Direk, Nese; Eibich, Peter; Emeny, Rebecca T; Fatemifar, Ghazaleh; Faul, Jessica D; Ferrucci, Luigi; Forstner, Andreas; Gieger, Christian; Gupta, Richa; Harris, Tamara B; Harris, Juliette M; Holliday, Elizabeth G; Hottenga, Jouke-Jan; De Jager, Philip L; Kaakinen, Marika A; Kajantie, Eero; Karhunen, Ville; Kolcic, Ivana; Kumari, Meena; Launer, Lenore J; Franke, Lude; Li-Gao, Ruifang; Koini, Marisa; Loukola, Anu; Marques-Vidal, Pedro; Montgomery, Grant W; Mosing, Miriam A; Paternoster, Lavinia; Pattie, Alison; Petrovic, Katja E; Pulkki-Råback, Laura; Quaye, Lydia; Räikkönen, Katri; Rudan, Igor; Scott, Rodney J; Smith, Jennifer A; Sutin, Angelina R; Trzaskowski, Maciej; Vinkhuyzen, Anna E; Yu, Lei; Zabaneh, Delilah; Attia, John R; Bennett, David A; Berger, Klaus; Bertram, Lars; Boomsma, Dorret I; Snieder, Harold; Chang, Shun-Chiao; Cucca, Francesco; Deary, Ian J; van Duijn, Cornelia M; Eriksson, Johan G; Bültmann, Ute; de Geus, Eco J C; Groenen, Patrick J F; Gudnason, Vilmundur; Hansen, Torben; Hartman, Catharine A; Haworth, Claire M A; Hayward, Caroline; Heath, Andrew C; Hinds, David A; Hyppönen, Elina; Iacono, William G; Järvelin, Marjo-Riitta; Jöckel, Karl-Heinz; Kaprio, Jaakko; Kardia, Sharon L R; Keltikangas-Järvinen, Liisa; Kraft, Peter; Kubzansky, Laura D; Lehtimäki, Terho; Magnusson, Patrik K E; Martin, Nicholas G; McGue, Matt; Metspalu, Andres; Mills, Melinda; de Mutsert, Renée; Oldehinkel, Albertine J; Pasterkamp, Gerard; Pedersen, Nancy L; Plomin, Robert; Polasek, Ozren; Power, Christine; Rich, Stephen S; Rosendaal, Frits R; den Ruijter, Hester M; Schlessinger, David; Schmidt, Helena; Svento, Rauli; Schmidt, Reinhold; Alizadeh, Behrooz Z; Sørensen, Thorkild I A; Spector, Tim D; Steptoe, Andrew; Terracciano, Antonio; Thurik, A Roy; Timpson, Nicholas J; Tiemeier, Henning; Uitterlinden, André G; Vollenweider, Peter; Wagner, Gert G; Weir, David R; Yang, Jian; Conley, Dalton C; Smith, George Davey; Hofman, Albert; Johannesson, Magnus; Laibson, David I; Medland, Sarah E; Meyer, Michelle N; Pickrell, Joseph K; Esko, Tõnu; Krueger, Robert F; Beauchamp, Jonathan P; Koellinger, Philipp D; Benjamin, Daniel J; Bartels, Meike; Cesarini, David

    Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted

  19. Genetic diversity analyses of Lasiodiplodia theobromae on Morus alba and Agave sisalana based on RAPD and ISSR molecular markers

    Directory of Open Access Journals (Sweden)

    Hong-hui Xie

    2016-10-01

    Full Text Available Genetic diversity of 23 Lasiodiplodia theobromae isolates on Morus alba and 6 isolates on Agave sisalana in Guangxi province, China, was studied by using random amplified polymorphic DNA and inter-simple sequence repeat molecular markers. Results of two molecular markers showed that the average percentage of polymorphic loci of all isolates was more than 93%. Both dendrograms of two molecular markers showed obvious relationship between groups and the geographical locations where those strains were collected, among which, the 23 isolates on M. alba were divided into 4 populations and the 6 isolates on A. sisalana were separated as a independent population. The average genetic identity and genetic distance of 5 populations were 0.7215, 0.3284 and 0.7915, 0.2347, respectively, which indicated that the genetic identity was high and the genetic distance was short in the 5 populations. Average value of the gene diversity index (H and the Shannon’s information index (I of 29 isolates were significantly higher than 5 populations which showed that genetic diversity of those isolates was richer than the populations and the degree of genetic differentiation of the isolates was higher. The Gst and Nm of 29 isolates were 0.4411, 0.6335 and 0.4756, 0.5513, respectively, which showed that the genetic diversity was rich in those isolates.

  20. Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

    NARCIS (Netherlands)

    Okbay, A.; Baselmans, B.M.L.; de Neve, J.E.; Turley, P.; Nivard, M.G.; Fontana, M.A.; Meddens, S.F.W.; Karlsson Linnér, R.; Rietveld, C.A.; Derringer, J.; de Vlaming, R.; Minica, C.C.; Hottenga, J.J.; Vinkhuyzen, A.A.E.; Boomsma, D.I.; de Geus, E.J.C.; Medland, S.E.; Meyer, M.N.; Pickrell, J.K.; Esko, T.; Krueger, R.F.; Beauchamp, J.; Koellinger, P.D.; Benjamin, D.J.; Bartels, M.; Cesarini, D.

    2016-01-01

    Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted

  1. Nuclear power control system design using genetic algorithm

    International Nuclear Information System (INIS)

    Lee, Yoon Joon; Cho, Kyung Ho

    1996-01-01

    The genetic algorithm(GA) is applied to the design of the nuclear power control system. The reactor control system model is described in the LQR configuration. The LQR system order is increased to make the tracking system. The key parameters of the design are weighting matrices, and these are usually determined through numerous simulations in the conventional design. To determine the more objective and optimal weightings, the improved GA is applied. The results show that the weightings determined by the GA yield the better system responses than those obtained by the conventional design method

  2. Optimal Parameter Selection of Power System Stabilizer using Genetic Algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Hyeng Hwan; Chung, Dong Il; Chung, Mun Kyu [Dong-AUniversity (Korea); Wang, Yong Peel [Canterbury Univeristy (New Zealand)

    1999-06-01

    In this paper, it is suggested that the selection method of optimal parameter of power system stabilizer (PSS) with robustness in low frequency oscillation for power system using real variable elitism genetic algorithm (RVEGA). The optimal parameters were selected in the case of power system stabilizer with one lead compensator, and two lead compensator. Also, the frequency responses characteristics of PSS, the system eigenvalues criterion and the dynamic characteristics were considered in the normal load and the heavy load, which proved usefulness of RVEGA compare with Yu's compensator design theory. (author). 20 refs., 15 figs., 8 tabs.

  3. Genetic Targets of Acute Toluene Inhalation in Drosophila melanogaster: DGRP activity, overlapping human orthologs, pathway analyses, GWAS results

    Data.gov (United States)

    U.S. Environmental Protection Agency — We used the Drosophila Genetics Reference Panel (DGRP), a collection of ~200 homozygous lines of fruit flies whose genomes have been sequenced. We quantified...

  4. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD

    NARCIS (Netherlands)

    Yu, Dongmei; Mathews, Carol A.; Scharf, Jeremiah M.; Neale, Benjamin M.; Davis, Lea K.; Gamazon, Eric R.; Derks, Eske M.; Evans, Patrick; Edlund, Christopher K.; Crane, Jacquelyn; Osiecki, Lisa; Gallagher, Patience; Gerber, Gloria; Haddad, Stephen; Illmann, Cornelia; McGrath, Lauren M.; Mayerfeld, Catherine; Arepalli, Sampath; Barlassina, Cristina; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Berrio, Gabriel Bedoya; Bienvenu, O. Joseph; Black, Donald W.; Bloch, Michael H.; Brentani, Helena; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Campbell, Desmond D.; Cappi, Carolina; Silgado, Julio C. Cardona; Cavallini, Maria C.; Chavira, Denise A.; Chouinard, Sylvain; Cook, Edwin H.; Cookson, M. R.; Coric, Vladimir; Cullen, Bernadette; Cusi, Daniete; Delorme, Richard; Denys, Damiaan; Dion, Yves; Eapen, Valsama; Egberts, Karin; Falkai, Peter; Fernandez, Thomas; Fournier, Eduardo; Garrido, Helena; Geller, Daniel; Gilbert, Donald L.; Girard, Simon L.; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Gruenblatt, Edna; Hardy, John; Heiman, Gary A.; Hemmings, Sian M. J.; Herrera, Luis D.; Hezel, Dianne M.; Hoekstra, Pieter J.; Jankovic, Joseph; Kennedy, James L.; King, Robert A.; Konkashbaev, Anuar I.; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L.; Lupoli, Sara; Macciardi, Fabio; Maier, Wolfgang; Manunta, Paolo; Marconi, Maurizio; McCracken, James T.; Restrepo, Sandra C. Mesa; Moessner, Rainald; Moorjani, Priya; Morgan, Jubel; Muller, Heike; Murphy, Dennis L.; Naarden, Allan L.; Nurmi, Erika; Ochoa, William Cornejo; Ophoff, Roel A.; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlo N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L.; Renner, Tobias; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Romero, Roxana; Rosario, Maria C.; Rosenberg, David; Ruhrmann, Stephan; Sabatti, Chiara; Salvi, Erika; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Service, Susan K.; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Strengman, Eric; Tischfield, Jay A.; Turiel, Maurizio; Duarte, Ana V. Valencia; Vallada, Homero; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Weale, Mike; Weiss, Robert; Wendland, Jens R.; Westenberg, Herman G. M.; Shugart, Yin Yao; Hounie, Ana G.; Miguel, Euripedes C.; Nicolini, Humberto; Wagner, Michael; Ruiz-Linares, Andres; Cath, Danielle C.; McMahon, William; Posthuma, Danielle; Oostra, Ben A.; Nestadt, Gerald; Routeau, Guy A.; Purcell, Shaun; Jenike, Michael A.; Heutink, Peter; Hanna, Gregory L.; Conti, David V.; Arnold, Paul D.; Freimer, Nelson B.; Stewart, Evelyn; Knowles, James A.; Cox, Nancy J.; Pauls, David L.

    Objective: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The

  5. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD

    NARCIS (Netherlands)

    Yu, Dongmei; Mathews, Carol A.; Scharf, Jeremiah M.; Neale, Benjamin M.; Davis, Lea K.; Gamazon, Eric R.; Derks, Eske M.; Evans, Patrick; Edlund, Christopher K.; Crane, Jacquelyn; Fagerness, Jesen A.; Osiecki, Lisa; Gallagher, Patience; Gerber, Gloria; Haddad, Stephen; Illmann, Cornelia; McGrath, Lauren M.; Mayerfeld, Catherine; Arepalli, Sampath; Barlassina, Cristina; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Berrió, Gabriel Bedoya; Bienvenu, O. Joseph; Black, Donald W.; Bloch, Michael H.; Brentani, Helena; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Campbell, Desmond D.; Cappi, Carolina; Silgado, Julio C. Cardona; Cavallini, Maria C.; Chavira, Denise A.; Chouinard, Sylvain; Cook, Edwin H.; Cookson, M. R.; Coric, Vladimir; Cullen, Bernadette; Cusi, Daniele; Delorme, Richard; Denys, Damiaan; Dion, Yves; Eapen, Valsama; Egberts, Karin; Falkai, Peter; Fernandez, Thomas; Fournier, Eduardo; Garrido, Helena; Geller, Daniel; Gilbert, Donald L.; Girard, Simon L.; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Grünblatt, Edna; Hardy, John; Heiman, Gary A.; Hemmings, Sian M. J.; Herrera, Luis D.; Hezel, Dianne M.; Hoekstra, Pieter J.; Jankovic, Joseph; Kennedy, James L.; King, Robert A.; Konkashbaev, Anuar I.; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L.; Lupoli, Sara; Macciardi, Fabio; Maier, Wolfgang; Manunta, Paolo; Marconi, Maurizio; McCracken, James T.; Mesa Restrepo, Sandra C.; Moessner, Rainald; Moorjani, Priya; Morgan, Jubel; Muller, Heike; Murphy, Dennis L.; Naarden, Allan L.; Nurmi, Erika; Ochoa, William Cornejo; Ophoff, Roel A.; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlos N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L.; Renner, Tobias; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Romero, Roxana; Rosário, Maria C.; Rosenberg, David; Ruhrmann, Stephan; Sabatti, Chiara; Salvi, Erika; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Service, Susan K.; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Strengman, Eric; Tischfield, Jay A.; Turiel, Maurizio; Valencia Duarte, Ana V.; Vallada, Homero; Veenstra-Vanderweele, Jeremy; Walitza, Susanne; Wang, Ying; Weale, Mike; Weiss, Robert; Wendland, Jens R.; Westenberg, Herman G. M.; Shugart, Yin Yao; Hounie, Ana G.; Miguel, Euripedes C.; Nicolini, Humberto; Wagner, Michael; Ruiz-Linares, Andres; Cath, Danielle C.; McMahon, William; Posthuma, Danielle; Oostra, Ben A.; Nestadt, Gerald; Rouleau, Guy A.; Purcell, Shaun; Jenike, Michael A.; Heutink, Peter; Hanna, Gregory L.; Conti, David V.; Arnold, Paul D.; Freimer, Nelson B.; Stewart, S. Evelyn; Knowles, James A.; Cox, Nancy J.; Pauls, David L.

    2015-01-01

    Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a

  6. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD

    NARCIS (Netherlands)

    Yu, Dongmei; Mathews, Carol A; Scharf, Jeremiah M; Neale, Benjamin M; Davis, Lea K; Gamazon, Eric R; Derks, Eske M; Evans, Patrick; Edlund, Christopher K; Crane, Jacquelyn; Fagerness, Jesen A; Osiecki, Lisa; Gallagher, Patience; Gerber, Gloria; Haddad, Stephen; Illmann, Cornelia; McGrath, Lauren M; Mayerfeld, Catherine; Arepalli, Sampath; Barlassina, Cristina; Barr, Cathy L; Bellodi, Laura; Benarroch, Fortu; Berrió, Gabriel Bedoya; Bienvenu, O Joseph; Black, Donald W; Bloch, Michael H; Brentani, Helena; Bruun, Ruth D; Budman, Cathy L; Camarena, Beatriz; Campbell, Desmond D; Cappi, Carolina; Silgado, Julio C Cardona; Cavallini, Maria C; Chavira, Denise A; Chouinard, Sylvain; Cook, Edwin H; Cookson, M R; Coric, Vladimir; Cullen, Bernadette; Cusi, Daniele; Delorme, Richard; Denys, Damiaan; Dion, Yves; Eapen, Valsama; Egberts, Karin; Falkai, Peter; Fernandez, Thomas; Fournier, Eduardo; Garrido, Helena; Geller, Daniel; Gilbert, Donald L; Girard, Simon L; Grabe, Hans J; Grados, Marco A; Greenberg, Benjamin D; Gross-Tsur, Varda; Grünblatt, Edna; Hardy, John; Heiman, Gary A; Hemmings, Sian M J; Herrera, Luis D; Hezel, Dianne M; Hoekstra, Pieter J; Jankovic, Joseph; Kennedy, James L; King, Robert A; Konkashbaev, Anuar I; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L; Lupoli, Sara; Macciardi, Fabio; Maier, Wolfgang; Manunta, Paolo; Marconi, Maurizio; McCracken, James T; Mesa Restrepo, Sandra C; Moessner, Rainald; Moorjani, Priya; Morgan, Jubel; Muller, Heike; Murphy, Dennis L; Naarden, Allan L; Nurmi, Erika; Ochoa, William Cornejo; Ophoff, Roel A; Pakstis, Andrew J; Pato, Michele T; Pato, Carlos N; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L; Renner, Tobias; Reus, Victor I; Richter, Margaret A; Riddle, Mark A; Robertson, Mary M; Romero, Roxana; Rosário, Maria C; Rosenberg, David; Ruhrmann, Stephan; Sabatti, Chiara; Salvi, Erika; Sampaio, Aline S; Samuels, Jack; Sandor, Paul; Service, Susan K; Sheppard, Brooke; Singer, Harvey S; Smit, Jan H|info:eu-repo/dai/nl/113700644; Stein, Dan J; Strengman, Eric; Tischfield, Jay A; Turiel, Maurizio; Valencia Duarte, Ana V; Vallada, Homero; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Weale, Mike; Weiss, Robert; Wendland, Jens R; Westenberg, Herman G M; Shugart, Yin Yao; Hounie, Ana G; Miguel, Euripedes C; Nicolini, Humberto; Wagner, Michael; Ruiz-Linares, Andres; Cath, Danielle C|info:eu-repo/dai/nl/194111423; McMahon, William; Posthuma, Danielle; Oostra, Ben A; Nestadt, Gerald; Rouleau, Guy A; Purcell, Shaun; Jenike, Michael A; Heutink, Peter; Hanna, Gregory L; Conti, David V; Arnold, Paul D; Freimer, Nelson B; Stewart, S Evelyn; Knowles, James A; Cox, Nancy J; Pauls, David L

    OBJECTIVE: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The

  7. Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD

    NARCIS (Netherlands)

    Yu, D.M.; Mathews, C.A.; Scharf, J.M.; Neale, B.M.; Davis, L.K.; Gamazon, E.R.; Derks, E.M.; Evans, P.; Edlund, C.K.; Crane, J.; Osiecki, L.; Gallagher, P.; Gerber, G.; Haddad, S.; Illmann, C.; McGrath, L.M.; Mayerfeld, C.; Arepalli, S.; Barlassina, C.; Barr, C.L.; Bellodi, L.; Benarroch, F.; Berrio, G.B.; Bienvenu, O.J.; Black, D.W.; Bloch, M.H.; Brentani, H.; Bruun, R.D.; Budman, C.L.; Camarena, B.; Campbell, D.D.; Cappi, C.; Silgado, J.C.C.; Cavallini, M.C.; Chavira, D.A.; Chouinard, S.; Cook, E.H.; Cookson, M.R.; Coric, V.; Cullen, B.; Cusi, D.; Delorme, R.; Denys, D.; Dion, Y.; Eapen, V.; Egberts, K.; Falkai, P.; Fernandez, T.; Fournier, E.; Garrido, H.; Geller, D.; Gilbert, D.L.; Girard, S.L.; Grabe, H.J.; Grados, M.A.; Greenberg, B.D.; Gross-Tsur, V.; Grunblatt, E.; Hardy, J.; Heiman, G.A.; Hemmings, S.M.J.; Herrera, L.D.; Hezel, D.M.; Hoekstra, P.J.; Jankovic, J.; Kennedy, J.L.; King, R.A.; Konkashbaev, A.I.; Kremeyer, B.; Kurlan, R.; Lanzagorta, N.; Leboyer, M.; Leckman, J.F.; Lennertz, L.; Liu, C.Y.; Lochner, C.; Lowe, T.L.; Lupoli, S.; Macciardi, F.; Maier, W.; Manunta, P.; Marconi, M.; McCracken, J.T.; Restrepo, S.C.M.; Moessner, R.; Moorjani, P.; Morgan, J.; Muller, H.; Murphy, D.L.; Naarden, A.L.; Nurmi, E.; Ochoa, W.C.; Ophoff, R. A.; Pakstis, A.J.; Pato, M.T.; Pato, C.N.; Piacentini, J.; Pittenger, C.; Pollak, Y.; Smit, J.H.; Posthuma, D.; Cox, N.J.; Pauls, D.L.

    2015-01-01

    Objective: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identi fication of definitive susceptibility genes for these etiologically complex disorders remains elusive. The

  8. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD

    NARCIS (Netherlands)

    Yu, Dongmei; Cusi, Daniele; Delorme, Richard; Denys, D.; Dion, Yves; Eapen, Valsama; Heutink, Peter; Cox, Nancy J; Pauls, David L

    OBJECTIVE: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The

  9. Phage Genetic Engineering Using CRISPR–Cas Systems

    Directory of Open Access Journals (Sweden)

    Asma Hatoum-Aslan

    2018-06-01

    Full Text Available Since their discovery over a decade ago, the class of prokaryotic immune systems known as CRISPR–Cas have afforded a suite of genetic tools that have revolutionized research in model organisms spanning all domains of life. CRISPR-mediated tools have also emerged for the natural targets of CRISPR–Cas immunity, the viruses that specifically infect bacteria, or phages. Despite their status as the most abundant biological entities on the planet, the majority of phage genes have unassigned functions. This reality underscores the need for robust genetic tools to study them. Recent reports have demonstrated that CRISPR–Cas systems, specifically the three major types (I, II, and III, can be harnessed to genetically engineer phages that infect diverse hosts. Here, the mechanisms of each of these systems, specific strategies used, and phage editing efficacies will be reviewed. Due to the relatively wide distribution of CRISPR–Cas systems across bacteria and archaea, it is anticipated that these immune systems will provide generally applicable tools that will advance the mechanistic understanding of prokaryotic viruses and accelerate the development of novel technologies based on these ubiquitous organisms.

  10. Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

    OpenAIRE

    Okbay, Aysu; Baselmans, B.M.L. (Bart M.L.); Neve, Jan-Emmanuel; Turley, Patrick; Nivard, Michel; Fontana, M.A. (Mark Alan); Meddens, S.F.W. (S. Fleur W.); Linnér, R.K. (Richard Karlsson); Rietveld, C.A. (Cornelius A); Derringer, J.; Gratten, Jacob; Lee, James J.; Liu, J.Z. (Jimmy Z); Vlaming, Ronald; SAhluwalia, T. (Tarunveer)

    2016-01-01

    textabstractVery few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associ...

  11. Analyses and tests for the baking system of the RFX vacuum vessel by eddy currents

    International Nuclear Information System (INIS)

    Collarin, P.; Sonato, P.; Zaccaria, P.; Zollino, G.

    1995-01-01

    The electrical, thermal and mechanical analyses carried out for the design of a new baking system for RFX by eddy currents are presented. The results of an experimental test on RFX with low heating power are reported as well. They gave confidence in the numerical analyses so as the working conditions with the nominal heating power were computed. (orig.)

  12. Analyses and tests for the baking system of the RFX vacuum vessel by eddy currents

    Energy Technology Data Exchange (ETDEWEB)

    Collarin, P. [Gruppo di Padova per Ricerche sulla Fusione, Univ. di Padova (Italy); Sonato, P. [Gruppo di Padova per Ricerche sulla Fusione, Univ. di Padova (Italy); Zaccaria, P. [Gruppo di Padova per Ricerche sulla Fusione, Univ. di Padova (Italy); Zollino, G. [Gruppo di Padova per Ricerche sulla Fusione, Univ. di Padova (Italy)

    1995-12-31

    The electrical, thermal and mechanical analyses carried out for the design of a new baking system for RFX by eddy currents are presented. The results of an experimental test on RFX with low heating power are reported as well. They gave confidence in the numerical analyses so as the working conditions with the nominal heating power were computed. (orig.).

  13. Dynamic modeling of genetic networks using genetic algorithm and S-system.

    Science.gov (United States)

    Kikuchi, Shinichi; Tominaga, Daisuke; Arita, Masanori; Takahashi, Katsutoshi; Tomita, Masaru

    2003-03-22

    The modeling of system dynamics of genetic networks, metabolic networks or signal transduction cascades from time-course data is formulated as a reverse-problem. Previous studies focused on the estimation of only network structures, and they were ineffective in inferring a network structure with feedback loops. We previously proposed a method to predict not only the network structure but also its dynamics using a Genetic Algorithm (GA) and an S-system formalism. However, it could predict only a small number of parameters and could rarely obtain essential structures. In this work, we propose a unified extension of the basic method. Notable improvements are as follows: (1) an additional term in its evaluation function that aims at eliminating futile parameters; (2) a crossover method called Simplex Crossover (SPX) to improve its optimization ability; and (3) a gradual optimization strategy to increase the number of predictable parameters. The proposed method is implemented as a C program called PEACE1 (Predictor by Evolutionary Algorithms and Canonical Equations 1). Its performance was compared with the basic method. The comparison showed that: (1) the convergence rate increased about 5-fold; (2) the optimization speed was raised about 1.5-fold; and (3) the number of predictable parameters was increased about 5-fold. Moreover, we successfully inferred the dynamics of a small genetic network constructed with 60 parameters for 5 network variables and feedback loops using only time-course data of gene expression.

  14. A Multi-Faceted Approach to Analyse the Effects of Environmental Variables on Geographic Range and Genetic Structure of a Perennial Psammophilous Geophyte: The Case of the Sea Daffodil Pancratium maritimum L. in the Mediterranean Basin.

    Directory of Open Access Journals (Sweden)

    Olga De Castro

    Full Text Available The Mediterranean coastline is a dynamic and complex system which owes its complexity to its past and present vicissitudes, e.g. complex tectonic history, climatic fluctuations, and prolonged coexistence with human activities. A plant species that is widespread in this habitat is the sea daffodil, Pancratium maritimum (Amaryllidaceae, which is a perennial clonal geophyte of the coastal sands of the Mediterranean and neighbouring areas, well adapted to the stressful conditions of sand dune environments. In this study, an integrated approach was used, combining genetic and environmental data with a niche modelling approach, aimed to investigate: (1 the effect of climate change on the geographic range of this species at different times {past (last inter-glacial, LIG; and last glacial maximum, LGM, present (CURR, near-future (FUT} and (2 the possible influence of environmental variables on the genetic structure of this species in the current period. The genetic results show that 48 sea daffodil populations (867 specimens display a good genetic diversity in which the marginal populations (i.e. Atlantic Sea populations present lower values. Recent genetic signature of bottleneck was detected in few populations (8%. The molecular variation was higher within the populations (77% and two genetic pools were well represented. Comparing the different climatic simulations in time, the global range of this plant increased, and a further extension is foreseen in the near future thanks to projections on the climate of areas currently-more temperate, where our model suggested a forecast for a climate more similar to the Mediterranean coast. A significant positive correlation was observed between the genetic distance and Precipitation of Coldest Quarter variable in current periods. Our analyses support the hypothesis that geomorphology of the Mediterranean coasts, sea currents, and climate have played significant roles in shaping the current genetic structure of

  15. A Multi-Faceted Approach to Analyse the Effects of Environmental Variables on Geographic Range and Genetic Structure of a Perennial Psammophilous Geophyte: The Case of the Sea Daffodil Pancratium maritimum L. in the Mediterranean Basin.

    Science.gov (United States)

    De Castro, Olga; Di Maio, Antonietta; Di Febbraro, Mirko; Imparato, Gennaro; Innangi, Michele; Véla, Errol; Menale, Bruno

    2016-01-01

    The Mediterranean coastline is a dynamic and complex system which owes its complexity to its past and present vicissitudes, e.g. complex tectonic history, climatic fluctuations, and prolonged coexistence with human activities. A plant species that is widespread in this habitat is the sea daffodil, Pancratium maritimum (Amaryllidaceae), which is a perennial clonal geophyte of the coastal sands of the Mediterranean and neighbouring areas, well adapted to the stressful conditions of sand dune environments. In this study, an integrated approach was used, combining genetic and environmental data with a niche modelling approach, aimed to investigate: (1) the effect of climate change on the geographic range of this species at different times {past (last inter-glacial, LIG; and last glacial maximum, LGM), present (CURR), near-future (FUT)} and (2) the possible influence of environmental variables on the genetic structure of this species in the current period. The genetic results show that 48 sea daffodil populations (867 specimens) display a good genetic diversity in which the marginal populations (i.e. Atlantic Sea populations) present lower values. Recent genetic signature of bottleneck was detected in few populations (8%). The molecular variation was higher within the populations (77%) and two genetic pools were well represented. Comparing the different climatic simulations in time, the global range of this plant increased, and a further extension is foreseen in the near future thanks to projections on the climate of areas currently-more temperate, where our model suggested a forecast for a climate more similar to the Mediterranean coast. A significant positive correlation was observed between the genetic distance and Precipitation of Coldest Quarter variable in current periods. Our analyses support the hypothesis that geomorphology of the Mediterranean coasts, sea currents, and climate have played significant roles in shaping the current genetic structure of the sea

  16. US system of oversight for genetic testing: a report from the Secretary's Advisory Committee on Genetics, Health and Society.

    Science.gov (United States)

    Ferreira-Gonzalez, Andrea; Teutsch, Steven; Williams, Marc S; Au, Sylvia M; Fitzgerald, Kevin T; Miller, Paul Steven; Fomous, Cathy

    2008-09-01

    As genetic testing technology is integrated into healthcare, increasingly detailed information about individual and population genetic variation is available to patients and providers. Health professionals use genetic testing to diagnose or assess the risk of disease in individuals, families and populations and to guide healthcare decisions. Consumers are beginning to explore personalized genomic services in an effort to learn more about their risk for common diseases. Scientific and technological advances in genetic testing, as with any newly introduced medical technology, present certain challenges to existing frameworks of oversight. In addition, the growing use of genetic testing will require a significant investment in evidence-based assessments to understand the validity and utility of these tests in clinical and personal decisionmaking. To optimize the use of genetic testing in healthcare, all sectors of the oversight system need to be strengthened and yet remain flexible in order to adapt to advances that will inevitably increase the range of genetic tests and methodologies.

  17. Genetic optimization of steam multi-turbines system

    International Nuclear Information System (INIS)

    Olszewski, Pawel

    2014-01-01

    Optimization analysis of partially loaded cogeneration, multiple-stages steam turbines system was numerically investigated by using own-developed code (C++). The system can be controlled by following variables: fresh steam temperature, pressure, and flow rates through all stages in steam turbines. Five various strategies, four thermodynamics and one economical, which quantify system operation, were defined and discussed as an optimization functions. Mathematical model of steam turbines calculates steam properties according to the formulation proposed by the International Association for the Properties of Water and Steam. Genetic algorithm GENOCOP was implemented as a solving engine for non–linear problem with handling constrains. Using formulated methodology, example solution for partially loaded system, composed of five steam turbines (30 input variables) with different characteristics, was obtained for five strategies. The genetic algorithm found multiple solutions (various input parameters sets) giving similar overall results. In real application it allows for appropriate scheduling of machine operation that would affect equable time load of every system compounds. Also based on these results three strategies where chosen as the most complex: the first thermodynamic law energy and exergy efficiency maximization and total equivalent energy minimization. These strategies can be successfully used in optimization of real cogeneration applications. - Highlights: • Genetic optimization model for a set of five various steam turbines was presented. • Four various thermodynamic optimization strategies were proposed and discussed. • Operational parameters (steam pressure, temperature, flow) influence was examined. • Genetic algorithm generated optimal solutions giving the best estimators values. • It has been found that similar energy effect can be obtained for various inputs

  18. Making systems with mutually exclusive events analysable by standard fault tree analysis tools

    International Nuclear Information System (INIS)

    Vaurio, J.K.

    2001-01-01

    Methods are developed for analysing systems that comprise mutually exclusive events by fault tree techniques that accept only statistically independent basic events. Techniques based on equivalent models and numerical transformations are presented for phased missions and for systems with component-caused system-level common cause failures. Numerical examples illustrate the methods

  19. Y-chromosomal insights into the genetic impact of the caste system in India.

    Science.gov (United States)

    Zerjal, Tatiana; Pandya, Arpita; Thangaraj, Kumarasamy; Ling, Edmund Y S; Kearley, Jennifer; Bertoneri, Stefania; Paracchini, Silvia; Singh, Lalji; Tyler-Smith, Chris

    2007-03-01

    The caste system has persisted in Indian Hindu society for around 3,500 years. Like the Y chromosome, caste is defined at birth, and males cannot change their caste. In order to investigate the genetic consequences of this system, we have analysed male-lineage variation in a sample of 227 Indian men of known caste, 141 from the Jaunpur district of Uttar Pradesh and 86 from the rest of India. We typed 131 Y-chromosomal binary markers and 16 microsatellites. We find striking evidence for male substructure: in particular, Brahmins and Kshatriyas (but not other castes) from Jaunpur each show low diversity and the predominance of a single distinct cluster of haplotypes. These findings confirm the genetic isolation and drift within the Jaunpur upper castes, which are likely to result from founder effects and social factors. In the other castes, there may be either larger effective population sizes, or less strict isolation, or both.

  20. Global structural optimizations of surface systems with a genetic algorithm

    International Nuclear Information System (INIS)

    Chuang, Feng-Chuan

    2005-01-01

    Global structural optimizations with a genetic algorithm were performed for atomic cluster and surface systems including aluminum atomic clusters, Si magic clusters on the Si(111) 7 x 7 surface, silicon high-index surfaces, and Ag-induced Si(111) reconstructions. First, the global structural optimizations of neutral aluminum clusters Al n (n up to 23) were performed using a genetic algorithm coupled with a tight-binding potential. Second, a genetic algorithm in combination with tight-binding and first-principles calculations were performed to study the structures of magic clusters on the Si(111) 7 x 7 surface. Extensive calculations show that the magic cluster observed in scanning tunneling microscopy (STM) experiments consist of eight Si atoms. Simulated STM images of the Si magic cluster exhibit a ring-like feature similar to STM experiments. Third, a genetic algorithm coupled with a highly optimized empirical potential were used to determine the lowest energy structure of high-index semiconductor surfaces. The lowest energy structures of Si(105) and Si(114) were determined successfully. The results of Si(105) and Si(114) are reported within the framework of highly optimized empirical potential and first-principles calculations. Finally, a genetic algorithm coupled with Si and Ag tight-binding potentials were used to search for Ag-induced Si(111) reconstructions at various Ag and Si coverages. The optimized structural models of √3 x √3, 3 x 1, and 5 x 2 phases were reported using first-principles calculations. A novel model is found to have lower surface energy than the proposed double-honeycomb chained (DHC) model both for Au/Si(111) 5 x 2 and Ag/Si(111) 5 x 2 systems

  1. Efficient Feedforward Linearization Technique Using Genetic Algorithms for OFDM Systems

    Directory of Open Access Journals (Sweden)

    García Paloma

    2010-01-01

    Full Text Available Feedforward is a linearization method that simultaneously offers wide bandwidth and good intermodulation distortion suppression; so it is a good choice for Orthogonal Frequency Division Multiplexing (OFDM systems. Feedforward structure consists of two loops, being necessary an accurate adjustment between them along the time, and when temperature, environmental, or operating changes are produced. Amplitude and phase imbalances of the circuit elements in both loops produce mismatched effects that lead to degrade its performance. A method is proposed to compensate these mismatches, introducing two complex coefficients calculated by means of a genetic algorithm. A full study is carried out to choose the optimal parameters of the genetic algorithm applied to wideband systems based on OFDM technologies, which are very sensitive to nonlinear distortions. The method functionality has been verified by means of simulation.

  2. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

    Science.gov (United States)

    Wray, Naomi R; Ripke, Stephan; Mattheisen, Manuel; Trzaskowski, Maciej; Byrne, Enda M; Abdellaoui, Abdel; Adams, Mark J; Agerbo, Esben; Air, Tracy M; Andlauer, Till M F; Bacanu, Silviu-Alin; Bækvad-Hansen, Marie; Beekman, Aartjan F T; Bigdeli, Tim B; Binder, Elisabeth B; Blackwood, Douglas R H; Bryois, Julien; Buttenschøn, Henriette N; Bybjerg-Grauholm, Jonas; Cai, Na; Castelao, Enrique; Christensen, Jane Hvarregaard; Clarke, Toni-Kim; Coleman, Jonathan I R; Colodro-Conde, Lucía; Couvy-Duchesne, Baptiste; Craddock, Nick; Crawford, Gregory E; Crowley, Cheynna A; Dashti, Hassan S; Davies, Gail; Deary, Ian J; Degenhardt, Franziska; Derks, Eske M; Direk, Nese; Dolan, Conor V; Dunn, Erin C; Eley, Thalia C; Eriksson, Nicholas; Escott-Price, Valentina; Kiadeh, Farnush Hassan Farhadi; Finucane, Hilary K; Forstner, Andreas J; Frank, Josef; Gaspar, Héléna A; Gill, Michael; Giusti-Rodríguez, Paola; Goes, Fernando S; Gordon, Scott D; Grove, Jakob; Hall, Lynsey S; Hannon, Eilis; Hansen, Christine Søholm; Hansen, Thomas F; Herms, Stefan; Hickie, Ian B; Hoffmann, Per; Homuth, Georg; Horn, Carsten; Hottenga, Jouke-Jan; Hougaard, David M; Hu, Ming; Hyde, Craig L; Ising, Marcus; Jansen, Rick; Jin, Fulai; Jorgenson, Eric; Knowles, James A; Kohane, Isaac S; Kraft, Julia; Kretzschmar, Warren W; Krogh, Jesper; Kutalik, Zoltán; Lane, Jacqueline M; Li, Yihan; Li, Yun; Lind, Penelope A; Liu, Xiaoxiao; Lu, Leina; MacIntyre, Donald J; MacKinnon, Dean F; Maier, Robert M; Maier, Wolfgang; Marchini, Jonathan; Mbarek, Hamdi; McGrath, Patrick; McGuffin, Peter; Medland, Sarah E; Mehta, Divya; Middeldorp, Christel M; Mihailov, Evelin; Milaneschi, Yuri; Milani, Lili; Mill, Jonathan; Mondimore, Francis M; Montgomery, Grant W; Mostafavi, Sara; Mullins, Niamh; Nauck, Matthias; Ng, Bernard; Nivard, Michel G; Nyholt, Dale R; O'Reilly, Paul F; Oskarsson, Hogni; Owen, Michael J; Painter, Jodie N; Pedersen, Carsten Bøcker; Pedersen, Marianne Giørtz; Peterson, Roseann E; Pettersson, Erik; Peyrot, Wouter J; Pistis, Giorgio; Posthuma, Danielle; Purcell, Shaun M; Quiroz, Jorge A; Qvist, Per; Rice, John P; Riley, Brien P; Rivera, Margarita; Saeed Mirza, Saira; Saxena, Richa; Schoevers, Robert; Schulte, Eva C; Shen, Ling; Shi, Jianxin; Shyn, Stanley I; Sigurdsson, Engilbert; Sinnamon, Grant B C; Smit, Johannes H; Smith, Daniel J; Stefansson, Hreinn; Steinberg, Stacy; Stockmeier, Craig A; Streit, Fabian; Strohmaier, Jana; Tansey, Katherine E; Teismann, Henning; Teumer, Alexander; Thompson, Wesley; Thomson, Pippa A; Thorgeirsson, Thorgeir E; Tian, Chao; Traylor, Matthew; Treutlein, Jens; Trubetskoy, Vassily; Uitterlinden, André G; Umbricht, Daniel; Van der Auwera, Sandra; van Hemert, Albert M; Viktorin, Alexander; Visscher, Peter M; Wang, Yunpeng; Webb, Bradley T; Weinsheimer, Shantel Marie; Wellmann, Jürgen; Willemsen, Gonneke; Witt, Stephanie H; Wu, Yang; Xi, Hualin S; Yang, Jian; Zhang, Futao; Arolt, Volker; Baune, Bernhard T; Berger, Klaus; Boomsma, Dorret I; Cichon, Sven; Dannlowski, Udo; de Geus, E C J; DePaulo, J Raymond; Domenici, Enrico; Domschke, Katharina; Esko, Tõnu; Grabe, Hans J; Hamilton, Steven P; Hayward, Caroline; Heath, Andrew C; Hinds, David A; Kendler, Kenneth S; Kloiber, Stefan; Lewis, Glyn; Li, Qingqin S; Lucae, Susanne; Madden, Pamela F A; Magnusson, Patrik K; Martin, Nicholas G; McIntosh, Andrew M; Metspalu, Andres; Mors, Ole; Mortensen, Preben Bo; Müller-Myhsok, Bertram; Nordentoft, Merete; Nöthen, Markus M; O'Donovan, Michael C; Paciga, Sara A; Pedersen, Nancy L; Penninx, Brenda W J H; Perlis, Roy H; Porteous, David J; Potash, James B; Preisig, Martin; Rietschel, Marcella; Schaefer, Catherine; Schulze, Thomas G; Smoller, Jordan W; Stefansson, Kari; Tiemeier, Henning; Uher, Rudolf; Völzke, Henry; Weissman, Myrna M; Werge, Thomas; Winslow, Ashley R; Lewis, Cathryn M; Levinson, Douglas F; Breen, Gerome; Børglum, Anders D; Sullivan, Patrick F

    2018-05-01

    Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide association meta-analysis based in 135,458 cases and 344,901 controls and identified 44 independent and significant loci. The genetic findings were associated with clinical features of major depression and implicated brain regions exhibiting anatomical differences in cases. Targets of antidepressant medications and genes involved in gene splicing were enriched for smaller association signal. We found important relationships of genetic risk for major depression with educational attainment, body mass, and schizophrenia: lower educational attainment and higher body mass were putatively causal, whereas major depression and schizophrenia reflected a partly shared biological etiology. All humans carry lesser or greater numbers of genetic risk factors for major depression. These findings help refine the basis of major depression and imply that a continuous measure of risk underlies the clinical phenotype.

  3. Genome-Wide Association Meta-Analyses to Identify Common Genetic Variants Associated with Hallux Valgus in Caucasian and African Americans

    Science.gov (United States)

    Hsu, Yi-Hsiang; Liu, Youfang; Hannan, Marian T.; Maixner, William; Smith, Shad B.; Diatchenko, Luda; Golightly, Yvonne M.; Menz, Hylton B.; Kraus, Virginia B.; Doherty, Michael; Wilson, A.G.; Jordan, Joanne M.

    2016-01-01

    Objective Hallux valgus (HV) affects ~36% of Caucasian adults. Although considered highly heritable, the underlying genetic determinants are unclear. We conducted the first genome-wide association study (GWAS) aimed to identify genetic variants associated with HV. Methods HV was assessed in 3 Caucasian cohorts (n=2,263, n=915, and n=1,231 participants, respectively). In each cohort, a GWAS was conducted using 2.5M imputed single nucleotide polymorphisms (SNPs). Mixed-effect regression with the additive genetic model adjusted for age, sex, weight and within-family correlations was used for both sex-specific and combined analyses. To combine GWAS results across cohorts, fixed-effect inverse-variance meta-analyses were used. Following meta-analyses, top-associated findings were also examined in an African American cohort (n=327). Results The proportion of HV variance explained by genome-wide genotyped SNPs was 50% in men and 48% in women. A higher proportion of genetic determinants of HV was sex-specific. The most significantly associated SNP in men was rs9675316 located on chr17q23-a24 near the AXIN2 gene (p=5.46×10−7); the most significantly associated SNP in women was rs7996797 located on chr13q14.1-q14.2 near the ESD gene (p=7.21×10−7). Genome-wide significant SNP-by-sex interaction was found for SNP rs1563374 located on chr11p15.1 near the MRGPRX3 gene (interaction p-value =4.1×10−9). The association signals diminished when combining men and women. Conclusion Findings suggest that the potential pathophysiological mechanisms of HV are complex and strongly underlined by sex-specific interactions. The identified genetic variants imply contribution of biological pathways observed in osteoarthritis as well as new pathways, influencing skeletal development and inflammation. PMID:26337638

  4. Genetic characterisation of populations of the critically endangered Goliath grouper ( Epinephelus itajara, Serranidae from the Northern Brazilian coast through analyses of mtDNA

    Directory of Open Access Journals (Sweden)

    Gláucia C. Silva-Oliveira

    2008-01-01

    Full Text Available The Goliath grouper ( Epinephelus itajara is one of the most endangered species of fish of the subfamily Epinephelinae. Slow to develop and mature, and dependent on mangrove habitats for breeding, the species also suffers intense harvesting, which has reduced drastically in numbers in many areas. To contribute to the understanding of the characteristics of E. itajara populations, we conducted a molecular genetics study of the species, focusing on populations from the Northern Brazilian coast. The mtDNA control region (D-loop of 116 individuals from five localities (Bragança, Ajuruteua, Parnaíba, Fortaleza and Natal was analysed, and a sequence of 499 base pairs identified. Analyses of the sequences indicated that genetic variability was generally lower in E. itajara than in other endangered species of the genus. AMOVA found no significant grouping structure among the populations. Nested Clade Analysis revealed a significant association between genetic variability and geographic distribution among only three populations (Ajuruteua, Parnaíba and Natal. Genetic diversity was higher in populations from the Amazon region, which may be related to the better conservation of mangrove habitats in this area. Therefore, the present study could be used for the implementation of conservation and management measures in order to protect and consolidate these populations.

  5. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

    NARCIS (Netherlands)

    Cousminer, Diana L.; Berry, Diane J.; Timpson, Nicholas J.; Ang, Wei; Thiering, Elisabeth; Byrne, Enda M.; Taal, H. Rob; Huikari, Ville; Bradfield, Jonathan P.; Kerkhof, Marjan; Groen-Blokhuis, Maria M.; Kreiner-Moller, Eskil; Marinelli, Marcella; Holst, Claus; Leinonen, Jaakko T.; Perry, John R. B.; Surakka, Ida; Pietilainen, Olli; Kettunen, Johannes; Anttila, Verneri; Kaakinen, Marika; Sovio, Ulla; Pouta, Anneli; Das, Shikta; Lagou, Vasiliki; Power, Chris; Prokopenko, Inga; Evans, David M.; Kemp, John P.; St Pourcain, Beate; Ring, Susan; Palotie, Aarno; Kajantie, Eero; Osmond, Clive; Lehtimaki, Terho; Viikari, Jorma S.; Kahonen, Mika; Warrington, Nicole M.; Lye, Stephen J.; Palmer, Lyle J.; Tiesler, Carla M. T.; Flexeder, Claudia; Montgomery, Grant W.; Medland, Sarah E.; Hofman, Albert; Hakonarson, Hakon; Guxens, Monica; Bartels, Meike; Salomaa, Veikko; Koppelman, Gerard H.

    2013-01-01

    The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and

  6. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

    NARCIS (Netherlands)

    van Rheenen, Wouter; Shatunov, Aleksey; Dekker, Annelot M; McLaughlin, Russell L; Diekstra, Frank P; Pulit, Sara L; van der Spek, Rick A A; Võsa, Urmo; de Jong, Simone; Robinson, Matthew R; Yang, Jian; Fogh, Isabella; van Doormaal, Perry Tc; Tazelaar, Gijs H P; Koppers, Max; Blokhuis, Anna M; Sproviero, William; Jones, Ashley R; Kenna, Kevin P; van Eijk, Kristel R; Harschnitz, Oliver; Schellevis, Raymond D; Brands, William J; Medic, Jelena; Menelaou, Androniki; Vajda, Alice; Ticozzi, Nicola; Lin, Kuang; Rogelj, Boris; Vrabec, Katarina; Ravnik-Glavač, Metka; Koritnik, Blaž; Zidar, Janez; Leonardis, Lea; Grošelj, Leja Dolenc; Millecamps, Stéphanie; Salachas, François; Meininger, Vincent; de Carvalho, Mamede; Pinto, Susana; Mora, Jesus S; Rojas-García, Ricardo; Polak, Meraida; Chandran, Siddharthan; Colville, Shuna; Swingler, Robert; Morrison, Karen E; Shaw, Pamela J; Hardy, John; Orrell, Richard W; Pittman, Alan; Sidle, Katie; Fratta, Pietro; Malaspina, Andrea; Topp, Simon; Petri, Susanne; Abdulla, Susanne; Drepper, Carsten; Sendtner, Michael; Meyer, Thomas; Ophoff, Roel A.; Staats, Kim A; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; Van Deerlin, Vivianna M; Trojanowski, John Q; Elman, Lauren; McCluskey, Leo; Basak, A Nazli; Tunca, Ceren; Hamzeiy, Hamid; Parman, Yesim; Meitinger, Thomas; Lichtner, Peter; Radivojkov-Blagojevic, Milena; Andres, Christian R; Maurel, Cindy; Bensimon, Gilbert; Landwehrmeyer, Bernhard; Brice, Alexis; Payan, Christine A M; Saker-Delye, Safaa; Dürr, Alexandra; Wood, Nicholas W; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean-François; Uitterlinden, Andre G; Rivadeneira, Fernando; Estrada, Karol; Hofman, Albert; Curtis, Charles; Blauw, Hylke M; van der Kooi, Anneke J; de Visser, Marianne; Goris, An; Weber, Markus; Shaw, Christopher E; Smith, Bradley N; Pansarasa, Orietta; Cereda, Cristina; Del Bo, Roberto; Comi, Giacomo P; D'Alfonso, Sandra; Bertolin, Cinzia; Sorarù, Gianni; Mazzini, Letizia; Pensato, Viviana; Gellera, Cinzia; Tiloca, Cinzia; Ratti, Antonia; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Arcuti, Simona; Capozzo, Rosa; Zecca, Chiara; Lunetta, Christian; Penco, Silvana; Riva, Nilo; Padovani, Alessandro; Filosto, Massimiliano; Muller, Bernard; Stuit, Robbert Jan; Blair, Ian; Zhang, Katharine; McCann, Emily P; Fifita, Jennifer A; Nicholson, Garth A; Rowe, Dominic B; Pamphlett, Roger; Kiernan, Matthew C; Grosskreutz, Julian; Witte, Otto W; Ringer, Thomas; Prell, Tino; Stubendorff, Beatrice; Kurth, Ingo; Hübner, Christian A; Leigh, P Nigel; Casale, Federico; Chio, Adriano; Beghi, Ettore; Pupillo, Elisabetta; Tortelli, Rosanna; Logroscino, Giancarlo; Powell, John; Ludolph, Albert C; Weishaupt, Jochen H; Robberecht, Wim; Van Damme, Philip; Franke, Lude; Pers, Tune H; Brown, Robert H; Glass, Jonathan D; Landers, John E; Hardiman, Orla; Andersen, Peter M; Corcia, Philippe; Vourc'h, Patrick; Silani, Vincenzo; Wray, Naomi R; Visscher, Peter M; de Bakker, Paul I W; van Es, Michael A; Pasterkamp, R Jeroen; Lewis, Cathryn M; Breen, Gerome; Al-Chalabi, Ammar; van den Berg, Leonard H; Veldink, Jan H

    To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577

  7. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

    NARCIS (Netherlands)

    van Rheenen, Wouter; Shatunov, Aleksey; Dekker, Annelot M.; McLaughlin, Russell L.; Diekstra, Frank P.; Pulit, Sara L.; van der Spek, Rick A. A.; Võsa, Urmo; de Jong, Simone; Robinson, Matthew R.; Yang, Jian; Fogh, Isabella; van Doormaal, Perry Tc; Tazelaar, Gijs H. P.; Koppers, Max; Blokhuis, Anna M.; Sproviero, William; Jones, Ashley R.; Kenna, Kevin P.; van Eijk, Kristel R.; Harschnitz, Oliver; Schellevis, Raymond D.; Brands, William J.; Medic, Jelena; Menelaou, Androniki; Vajda, Alice; Ticozzi, Nicola; Lin, Kuang; Rogelj, Boris; Vrabec, Katarina; Ravnik-Glavač, Metka; Koritnik, Blaž; Zidar, Janez; Leonardis, Lea; Grošelj, Leja Dolenc; Millecamps, Stéphanie; Salachas, François; Meininger, Vincent; de Carvalho, Mamede; Pinto, Susana; Mora, Jesus S.; Rojas-García, Ricardo; Polak, Meraida; Chandran, Siddharthan; Colville, Shuna; Swingler, Robert; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Pittman, Alan; Sidle, Katie; Fratta, Pietro; Malaspina, Andrea; Topp, Simon; Petri, Susanne; Abdulla, Susanne; Drepper, Carsten; Sendtner, Michael; Meyer, Thomas; Ophoff, Roel A.; Staats, Kim A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Trojanowski, John Q.; Elman, Lauren; McCluskey, Leo; Basak, A. Nazli; Tunca, Ceren; Hamzeiy, Hamid; Parman, Yesim; Meitinger, Thomas; Lichtner, Peter; Radivojkov-Blagojevic, Milena; Andres, Christian R.; Maurel, Cindy; Bensimon, Gilbert; Landwehrmeyer, Bernhard; Brice, Alexis; Payan, Christine A. M.; Saker-Delye, Safaa; Dürr, Alexandra; Wood, Nicholas W.; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M.; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean-François; Uitterlinden, Andre G.; Rivadeneira, Fernando; Estrada, Karol; Hofman, Albert; Curtis, Charles; Blauw, Hylke M.; van der Kooi, Anneke J.; de Visser, Marianne; Goris, An; Weber, Markus; Shaw, Christopher E.; Smith, Bradley N.; Pansarasa, Orietta; Cereda, Cristina; del Bo, Roberto; Comi, Giacomo P.; D'alfonso, Sandra; Bertolin, Cinzia; Sorarù, Gianni; Mazzini, Letizia; Pensato, Viviana; Gellera, Cinzia; Tiloca, Cinzia; Ratti, Antonia; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Arcuti, Simona; Capozzo, Rosa; Zecca, Chiara; Lunetta, Christian; Penco, Silvana; Riva, Nilo; Padovani, Alessandro; Filosto, Massimiliano; Muller, Bernard; Stuit, Robbert Jan; Blair, Ian; Zhang, Katharine; McCann, Emily P.; Fifita, Jennifer A.; Nicholson, Garth A.; Rowe, Dominic B.; Pamphlett, Roger; Kiernan, Matthew C.; Grosskreutz, Julian; Witte, Otto W.; Ringer, Thomas; Prell, Tino; Stubendorff, Beatrice; Kurth, Ingo; Hübner, Christian A.; Leigh, P. Nigel; Casale, Federico; Chio, Adriano; Beghi, Ettore; Pupillo, Elisabetta; Tortelli, Rosanna; Logroscino, Giancarlo; Powell, John; Ludolph, Albert C.; Weishaupt, Jochen H.; Robberecht, Wim; van Damme, Philip; Franke, Lude; Pers, Tune H.; Brown, Robert H.; Glass, Jonathan D.; Landers, John E.; Hardiman, Orla; Andersen, Peter M.; Corcia, Philippe; Vourc'h, Patrick; Silani, Vincenzo; Wray, Naomi R.; Visscher, Peter M.; de Bakker, Paul I. W.; van Es, Michael A.; Pasterkamp, R. Jeroen; Lewis, Cathryn M.; Breen, Gerome; Al-Chalabi, Ammar; van den Berg, Leonard H.; Veldink, Jan H.

    2016-01-01

    To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577

  8. Classical genetic analyses of responses to nicotine and ethanol in crosses derived from long- and short-sleep mice.

    Science.gov (United States)

    de Fiebre, C M; Collins, A C

    1992-04-01

    A classical (Mendelian) genetic analysis of responses to ethanol and nicotine was conducted in crosses derived from mouse lines which were selectively bred for differential duration of loss of the righting response (sleep-time) after ethanol. Dose-response curves for these mice, the long- and short-sleep mouse lines, as well as the derived F1, F2 and backcross (F1 x long-sleep and F1 x short-sleep) generations were generated for several measures of nicotine and ethanol sensitivity. Ethanol sensitivity was assessed using the sleep-time measure. Nicotine sensitivity was tested using a battery of behavioral and physiological tests which included measures of seizure activity, respiration rate, acoustic startle response, Y-maze activities (both crossing and rearing activities), heart rate and body temperature. The inheritance of sensitivities to both of these agents appears to be polygenic and inheritance can be explained primarily by additive genetic effects with some epistasis. Sensitivity to the ethanol sleep-time measure was genetically correlated with sensitivity to both nicotine-induced hypothermia and seizures; the correlation was greater between sleep-time and hypothermia. These data indicate that there is overlap in the genetic regulation of sensitivity to both ethanol and nicotine as measured by some, but not all, tests.

  9. Associations of Fitness, Physical Activity, Strength, and Genetic Risk With Cardiovascular Disease: Longitudinal Analyses in the UK Biobank Study.

    Science.gov (United States)

    Tikkanen, Emmi; Gustafsson, Stefan; Ingelsson, Erik

    2018-04-09

    Background -Observational studies have shown inverse associations among fitness, physical activity, and cardiovascular disease. However, little is known about these associations in individuals with elevated genetic susceptibility for these diseases. Methods -We estimated associations of grip strength, objective and subjective physical activity, and cardiorespiratory fitness with cardiovascular events and all-cause death in a large cohort of 502635 individuals from the UK Biobank (median follow-up, 6.1 years; interquartile range, 5.4-6.8 years). Then we further examined these associations in individuals with different genetic burden by stratifying individuals based on their genetic risk scores for coronary heart disease and atrial fibrillation. We compared disease risk among individuals in different tertiles of fitness, physical activity, and genetic risk using lowest tertiles as reference. Results -Grip strength, physical activity, and cardiorespiratory fitness showed inverse associations with incident cardiovascular events (coronary heart disease: hazard ratio [HR], 0.79; 95% confidence interval [CI], 0.77- 0.81; HR, 0.95; 95% CI, 0.93-0.97; and HR, 0.68; 95% CI, 0.63-0.74, per SD change, respectively; atrial fibrillation: HR, 0.75; 95% CI, 0.73- 0.76; HR, 0.93; 95% CI, 0.91-0.95; and HR, 0.60; 95% CI, 0.56-0.65, per SD change, respectively). Higher grip strength and cardiorespiratory fitness were associated with lower risk of incident coronary heart disease and atrial fibrillation in each genetic risk score group ( P trend fitness were associated with 49% lower risk for coronary heart disease (HR, 0.51; 95% CI, 0.38-0.69) and 60% lower risk for atrial fibrillation (HR, 0.40; 95%, CI 0.30-0.55) among individuals at high genetic risk for these diseases. Conclusions - Fitness and physical activity demonstrated inverse associations with incident cardiovascular disease in the general population, as well as in individuals with elevated genetic risk for these diseases.

  10. Spatial genetic analyses reveal cryptic population structure and migration patterns in a continuously harvested grey wolf (Canis lupus population in north-eastern Europe.

    Directory of Open Access Journals (Sweden)

    Maris Hindrikson

    Full Text Available Spatial genetics is a relatively new field in wildlife and conservation biology that is becoming an essential tool for unravelling the complexities of animal population processes, and for designing effective strategies for conservation and management. Conceptual and methodological developments in this field are therefore critical. Here we present two novel methodological approaches that further the analytical possibilities of STRUCTURE and DResD. Using these approaches we analyse structure and migrations in a grey wolf (Canislupus population in north-eastern Europe. We genotyped 16 microsatellite loci in 166 individuals sampled from the wolf population in Estonia and Latvia that has been under strong and continuous hunting pressure for decades. Our analysis demonstrated that this relatively small wolf population is represented by four genetic groups. We also used a novel methodological approach that uses linear interpolation to statistically test the spatial separation of genetic groups. The new method, which is capable of using program STRUCTURE output, can be applied widely in population genetics to reveal both core areas and areas of low significance for genetic groups. We also used a recently developed spatially explicit individual-based method DResD, and applied it for the first time to microsatellite data, revealing a migration corridor and barriers, and several contact zones.

  11. A Genetic Based Neuro-Fuzzy Controller System

    International Nuclear Information System (INIS)

    Mohamed, A.H.

    2014-01-01

    Recently, the mobile robots have great importance in the manufacturing processes. They are widely used for assembling processes, handling the dangerous components, moving the weighted things, etc. Designing the controller of the mobile robot is a very complex task. Many simple control systems used the neuro-fuzzy controller in the mobile robots. But, they faced with great complexity when moving in unstructured and dynamic environments. The proposed system introduces the uses of the genetic algorithm for optimizing the parameters of the neuro-fuzzy controller. So, the proposed system can improve the performance of the mobile robots. It has applied for a mobile robot used for moving the dangerous and critical materials in unstructured environment. Its results are compared with other traditional controller systems. The suggested system has proved its success for the real-time applications

  12. Data and analyses of phase relations in the Ce-Fe-Sb ternary system.

    Science.gov (United States)

    Zhu, Daiman; Xu, Chengliang; Li, Changrong; Guo, Cuiping; Zheng, Raowen; Du, Zhenmin; Li, Junqin

    2018-02-01

    These data and analyses support the research article "Experimental study on phase relations in the Ce-Fe-Sb ternary system" Zhu et al. (2017) [1]. The data and analyses presented here include the experimental results of XRD, SEM and EPMA for the determination of the whole liquidus projection and the isothermal section at 823 K in the Ce-Fe-Sb system. All the results enable the understanding of the constituent phases and the solidification processes of the as-cast alloys as well as the phase relations and the equilibrium regions at 823 K in the Ce-Fe-Sb ternary system over the entire composition.

  13. Development of a system of computer codes for severe accident analyses and its applications

    Energy Technology Data Exchange (ETDEWEB)

    Chang, Soon Hong; Cheon, Moon Heon; Cho, Nam jin; No, Hui Cheon; Chang, Hyeon Seop; Moon, Sang Kee; Park, Seok Jeong; Chung, Jee Hwan [Korea Advanced Institute of Science and Technology, Taejon (Korea, Republic of)

    1991-12-15

    The objectives of this study is to develop a system of computer codes for postulated severe accident analyses in Nuclear Power Plants. This system of codes is necessary to conduct individual plant examination for domestic nuclear power plants. As a result of this study, one can conduct severe accident assessments more easily, and can extract the plant-specific vulnerabilities for severe accidents and at the same time the ideas for enhancing overall accident resistance. The scope and contents of this study are as follows : development of a system of computer codes for severe accident analyses, development of severe accident management strategy.

  14. Development of a system of computer codes for severe accident analyses and its applications

    International Nuclear Information System (INIS)

    Chang, Soon Hong; Cheon, Moon Heon; Cho, Nam jin; No, Hui Cheon; Chang, Hyeon Seop; Moon, Sang Kee; Park, Seok Jeong; Chung, Jee Hwan

    1991-12-01

    The objectives of this study is to develop a system of computer codes for postulated severe accident analyses in Nuclear Power Plants. This system of codes is necessary to conduct individual plant examination for domestic nuclear power plants. As a result of this study, one can conduct severe accident assessments more easily, and can extract the plant-specific vulnerabilities for severe accidents and at the same time the ideas for enhancing overall accident resistance. The scope and contents of this study are as follows : development of a system of computer codes for severe accident analyses, development of severe accident management strategy

  15. Development of the computer code system for the analyses of PWR core

    International Nuclear Information System (INIS)

    Tsujimoto, Iwao; Naito, Yoshitaka.

    1992-11-01

    This report is one of the materials for the work titled 'Development of the computer code system for the analyses of PWR core phenomena', which is performed under contracts between Shikoku Electric Power Company and JAERI. In this report, the numerical method adopted in our computer code system are described, that is, 'The basic course and the summary of the analysing method', 'Numerical method for solving the Boltzmann equation', 'Numerical method for solving the thermo-hydraulic equations' and 'Description on the computer code system'. (author)

  16. Molecular Detection of Bladder Cancer by Fluorescence Microsatellite Analysis and an Automated Genetic Analyzing System

    Directory of Open Access Journals (Sweden)

    Sarel Halachmi

    2007-01-01

    Full Text Available To investigate the ability of an automated fluorescent analyzing system to detect microsatellite alterations, in patients with bladder cancer. We investigated 11 with pathology proven bladder Transitional Cell Carcinoma (TCC for microsatellite alterations in blood, urine, and tumor biopsies. DNA was prepared by standard methods from blood, urine and resected tumor specimens, and was used for microsatellite analysis. After the primers were fluorescent labeled, amplification of the DNA was performed with PCR. The PCR products were placed into the automated genetic analyser (ABI Prism 310, Perkin Elmer, USA and were subjected to fluorescent scanning with argon ion laser beams. The fluorescent signal intensity measured by the genetic analyzer measured the product size in terms of base pairs. We found loss of heterozygocity (LOH or microsatellite alterations (a loss or gain of nucleotides, which alter the original normal locus size in all the patients by using fluorescent microsatellite analysis and an automated analyzing system. In each case the genetic changes found in urine samples were identical to those found in the resected tumor sample. The studies demonstrated the ability to detect bladder tumor non-invasively by fluorescent microsatellite analysis of urine samples. Our study supports the worldwide trend for the search of non-invasive methods to detect bladder cancer. We have overcome major obstacles that prevented the clinical use of an experimental system. With our new tested system microsatellite analysis can be done cheaper, faster, easier and with higher scientific accuracy.

  17. Computational Genetic Regulatory Networks Evolvable, Self-organizing Systems

    CERN Document Server

    Knabe, Johannes F

    2013-01-01

    Genetic Regulatory Networks (GRNs) in biological organisms are primary engines for cells to enact their engagements with environments, via incessant, continually active coupling. In differentiated multicellular organisms, tremendous complexity has arisen in the course of evolution of life on earth. Engineering and science have so far achieved no working system that can compare with this complexity, depth and scope of organization. Abstracting the dynamics of genetic regulatory control to a computational framework in which artificial GRNs in artificial simulated cells differentiate while connected in a changing topology, it is possible to apply Darwinian evolution in silico to study the capacity of such developmental/differentiated GRNs to evolve. In this volume an evolutionary GRN paradigm is investigated for its evolvability and robustness in models of biological clocks, in simple differentiated multicellularity, and in evolving artificial developing 'organisms' which grow and express an ontogeny starting fr...

  18. Optimal design of link systems using successive zooming genetic algorithm

    Science.gov (United States)

    Kwon, Young-Doo; Sohn, Chang-hyun; Kwon, Soon-Bum; Lim, Jae-gyoo

    2009-07-01

    Link-systems have been around for a long time and are still used to control motion in diverse applications such as automobiles, robots and industrial machinery. This study presents a procedure involving the use of a genetic algorithm for the optimal design of single four-bar link systems and a double four-bar link system used in diesel engine. We adopted the Successive Zooming Genetic Algorithm (SZGA), which has one of the most rapid convergence rates among global search algorithms. The results are verified by experiment and the Recurdyn dynamic motion analysis package. During the optimal design of single four-bar link systems, we found in the case of identical input/output (IO) angles that the initial and final configurations show certain symmetry. For the double link system, we introduced weighting factors for the multi-objective functions, which minimize the difference between output angles, providing balanced engine performance, as well as the difference between final output angle and the desired magnitudes of final output angle. We adopted a graphical method to select a proper ratio between the weighting factors.

  19. Analyses of systems availability and operator actions to support the development of severe accident procedures

    International Nuclear Information System (INIS)

    Lutz, R.J. Jr.; Scobel, J.H.

    1989-01-01

    This paper reports on traditional analyses of severe accidents, such as those presented in Probabilistic Risk Assessment (PRA) studies of nuclear power stations, that have generally been performed on the assumption that all means of cooling the reactor core are lost and that no operator actions to mitigate the consequences or progression of the severe accident are performed. The assumption to neglect the availability of safety systems and operator actions which do not prevent core melting can lead to erroneous conclusions regarding the plant severer accident profile. Recent work in severe accident management has identified the need to perform analyses which consider all systems availabilities and operator actions, irrespective of their contribution to the prevention of core melting. These new analyses indicate that the traditional analyses result in overfly pessimistic predictions of the time of core melting and the subsequent potential for recovery of core cooling prior to core melting. Additionally, since the traditional analyses do not model all of the operator actions which are prescribed, the impact of additional severe accident operator actions on the progression and consequences of the accident cannot be reliably identified. Further, the more detailed analysis can change the focus of the importance of various system to the prevention of core damage and the mitigation of severe accident consequences. Finally, the simplicity of the traditional analyses can have a considerable impact on severe accident decision making, particularly in the evaluation of alternate plant design features and the priorities for research studies

  20. Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer.

    Directory of Open Access Journals (Sweden)

    Jian Gong

    2016-10-01

    Full Text Available Genome-wide association studies (GWAS have identified many genetic susceptibility loci for colorectal cancer (CRC. However, variants in these loci explain only a small proportion of familial aggregation, and there are likely additional variants that are associated with CRC susceptibility. Genome-wide studies of gene-environment interactions may identify variants that are not detected in GWAS of marginal gene effects. To study this, we conducted a genome-wide analysis for interaction between genetic variants and alcohol consumption and cigarette smoking using data from the Colon Cancer Family Registry (CCFR and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO. Interactions were tested using logistic regression. We identified interaction between CRC risk and alcohol consumption and variants in the 9q22.32/HIATL1 (Pinteraction = 1.76×10-8; permuted p-value 3.51x10-8 region. Compared to non-/occasional drinking light to moderate alcohol consumption was associated with a lower risk of colorectal cancer among individuals with rs9409565 CT genotype (OR, 0.82 [95% CI, 0.74-0.91]; P = 2.1×10-4 and TT genotypes (OR,0.62 [95% CI, 0.51-0.75]; P = 1.3×10-6 but not associated among those with the CC genotype (p = 0.059. No genome-wide statistically significant interactions were observed for smoking. If replicated our suggestive finding of a genome-wide significant interaction between genetic variants and alcohol consumption might contribute to understanding colorectal cancer etiology and identifying subpopulations with differential susceptibility to the effect of alcohol on CRC risk.

  1. Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

    Science.gov (United States)

    Newcomb, Polly A.; Campbell, Peter T.; Baron, John A.; Berndt, Sonja I.; Bezieau, Stephane; Brenner, Hermann; Casey, Graham; Chan, Andrew T.; Chang-Claude, Jenny; Du, Mengmeng; Figueiredo, Jane C.; Gallinger, Steven; Giovannucci, Edward L.; Haile, Robert W.; Harrison, Tabitha A.; Hayes, Richard B.; Hoffmeister, Michael; Hopper, John L.; Hudson, Thomas J.; Jeon, Jihyoun; Jenkins, Mark A.; Küry, Sébastien; Le Marchand, Loic; Lin, Yi; Lindor, Noralane M.; Nishihara, Reiko; Ogino, Shuji; Potter, John D.; Rudolph, Anja; Schoen, Robert E.; Seminara, Daniela; Slattery, Martha L.; Thibodeau, Stephen N.; Thornquist, Mark; Toth, Reka; Wallace, Robert; White, Emily; Jiao, Shuo; Lemire, Mathieu; Hsu, Li; Peters, Ulrike

    2016-01-01

    Genome-wide association studies (GWAS) have identified many genetic susceptibility loci for colorectal cancer (CRC). However, variants in these loci explain only a small proportion of familial aggregation, and there are likely additional variants that are associated with CRC susceptibility. Genome-wide studies of gene-environment interactions may identify variants that are not detected in GWAS of marginal gene effects. To study this, we conducted a genome-wide analysis for interaction between genetic variants and alcohol consumption and cigarette smoking using data from the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO). Interactions were tested using logistic regression. We identified interaction between CRC risk and alcohol consumption and variants in the 9q22.32/HIATL1 (Pinteraction = 1.76×10−8; permuted p-value 3.51x10-8) region. Compared to non-/occasional drinking light to moderate alcohol consumption was associated with a lower risk of colorectal cancer among individuals with rs9409565 CT genotype (OR, 0.82 [95% CI, 0.74–0.91]; P = 2.1×10−4) and TT genotypes (OR,0.62 [95% CI, 0.51–0.75]; P = 1.3×10−6) but not associated among those with the CC genotype (p = 0.059). No genome-wide statistically significant interactions were observed for smoking. If replicated our suggestive finding of a genome-wide significant interaction between genetic variants and alcohol consumption might contribute to understanding colorectal cancer etiology and identifying subpopulations with differential susceptibility to the effect of alcohol on CRC risk. PMID:27723779

  2. Bayesian estimation and use of high-throughput remote sensing indices for quantitative genetic analyses of leaf growth.

    Science.gov (United States)

    Baker, Robert L; Leong, Wen Fung; An, Nan; Brock, Marcus T; Rubin, Matthew J; Welch, Stephen; Weinig, Cynthia

    2018-02-01

    We develop Bayesian function-valued trait models that mathematically isolate genetic mechanisms underlying leaf growth trajectories by factoring out genotype-specific differences in photosynthesis. Remote sensing data can be used instead of leaf-level physiological measurements. Characterizing the genetic basis of traits that vary during ontogeny and affect plant performance is a major goal in evolutionary biology and agronomy. Describing genetic programs that specifically regulate morphological traits can be complicated by genotypic differences in physiological traits. We describe the growth trajectories of leaves using novel Bayesian function-valued trait (FVT) modeling approaches in Brassica rapa recombinant inbred lines raised in heterogeneous field settings. While frequentist approaches estimate parameter values by treating each experimental replicate discretely, Bayesian models can utilize information in the global dataset, potentially leading to more robust trait estimation. We illustrate this principle by estimating growth asymptotes in the face of missing data and comparing heritabilities of growth trajectory parameters estimated by Bayesian and frequentist approaches. Using pseudo-Bayes factors, we compare the performance of an initial Bayesian logistic growth model and a model that incorporates carbon assimilation (A max ) as a cofactor, thus statistically accounting for genotypic differences in carbon resources. We further evaluate two remotely sensed spectroradiometric indices, photochemical reflectance (pri2) and MERIS Terrestrial Chlorophyll Index (mtci) as covariates in lieu of A max , because these two indices were genetically correlated with A max across years and treatments yet allow much higher throughput compared to direct leaf-level gas-exchange measurements. For leaf lengths in uncrowded settings, including A max improves model fit over the initial model. The mtci and pri2 indices also outperform direct A max measurements. Of particular

  3. Comparative analyses of genetic/epigenetic diversities and structures in a wild barley species (Hordeum brevisubulatum) using MSAP, SSAP and AFLP.

    Science.gov (United States)

    Shan, X H; Li, Y D; Liu, X M; Wu, Y; Zhang, M Z; Guo, W L; Liu, B; Yuan, Y P

    2012-08-17

    We analyzed genetic diversity and population genetic structure of four artificial populations of wild barley (Hordeum brevisubulatum); 96 plants collected from the Songnen Prairie in northeastern China were analyzed using amplified fragment length polymorphism (AFLP), specific-sequence amplified polymorphism (SSAP) and methylation-sensitive amplified polymorphism (MSAP) markers. Indices of (epi-)genetic diversity, (epi-)genetic distance, gene flow, genotype frequency, cluster analysis, PCA analysis and AMOVA analysis generated from MSAP, AFLP and SSAP markers had the same trend. We found a high level of correlation in the artificial populations between MSAP, SSAP and AFLP markers by the Mantel test (r > 0.8). This is incongruent with previous findings showing that there is virtually no correlation between DNA methylation polymorphism and classical genetic variation; the high level of genetic polymorphism could be a result of epigenetic regulation. We compared our results with data from natural populations. The population diversity of the artificial populations was lower. However, different from what was found using AFLP and SSAP, based on MSAP results the methylation polymorphism of the artificial populations was not significantly reduced. This leads us to suggest that the DNA methylation pattern change in H. brevisubulatum populations is not only related to DNA sequence variation, but is also regulated by other controlling systems.

  4. Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses

    LENUS (Irish Health Repository)

    Trompet, Stella

    2011-10-06

    Abstract Background The PHArmacogenetic study of Statins in the Elderly at risk (PHASE) is a genome wide association study in the PROspective Study of Pravastatin in the Elderly at risk for vascular disease (PROSPER) that investigates the genetic variation responsible for the individual variation in drug response to pravastatin. Statins lower LDL-cholesterol in general by 30%, however not in all subjects. Moreover, clinical response is highly variable and adverse effects occur in a minority of patients. In this report we first describe the rationale of the PROSPER\\/PHASE project and second show that the PROSPER\\/PHASE study can be used to study pharmacogenetics in the elderly. Methods The genome wide association study (GWAS) was conducted using the Illumina 660K-Quad beadchips following manufacturer\\'s instructions. After a stringent quality control 557,192 SNPs in 5,244 subjects were available for analysis. To maximize the availability of genetic data and coverage of the genome, imputation up to 2.5 million autosomal CEPH HapMap SNPs was performed with MACH imputation software. The GWAS for LDL-cholesterol is assessed with an additive linear regression model in PROBABEL software, adjusted for age, sex, and country of origin to account for population stratification. Results Forty-two SNPs reached the GWAS significant threshold of p = 5.0e-08 in 5 genomic loci (APOE\\/APOC1; LDLR; FADS2\\/FEN1; HMGCR; PSRC1\\/CELSR5). The top SNP (rs445925, chromosome 19) with a p-value of p = 2.8e-30 is located within the APOC1 gene and near the APOE gene. The second top SNP (rs6511720, chromosome 19) with a p-value of p = 5.22e-15 is located within the LDLR gene. All 5 genomic loci were previously associated with LDL-cholesterol levels, no novel loci were identified. Replication in WOSCOPS and CARE confirmed our results. Conclusion With the GWAS in the PROSPER\\/PHASE study we confirm the previously found genetic associations with LDL-cholesterol levels. With this proof

  5. A review of computer tools for analysing the integration of renewable energy into various energy systems

    DEFF Research Database (Denmark)

    Connolly, D.; Lund, Henrik; Mathiesen, Brian Vad

    2010-01-01

    to integrating renewable energy, but instead the ‘ideal’ energy tool is highly dependent on the specific objectives that must be fulfilled. The typical applications for the 37 tools reviewed (from analysing single-building systems to national energy-systems), combined with numerous other factors......This paper includes a review of the different computer tools that can be used to analyse the integration of renewable energy. Initially 68 tools were considered, but 37 were included in the final analysis which was carried out in collaboration with the tool developers or recommended points...... of contact. The results in this paper provide the information necessary to identify a suitable energy tool for analysing the integration of renewable energy into various energy-systems under different objectives. It is evident from this paper that there is no energy tool that addresses all issues related...

  6. Recent insights into the genetic basis of systemic lupus erythematosus.

    Science.gov (United States)

    Moser, K L; Kelly, J A; Lessard, C J; Harley, J B

    2009-07-01

    Genetic variation was first shown to be important in systemic lupus erythematosus (SLE or lupus) in the 1970s with associations in the human leukocyte antigen region. Almost four decades later, and with the help of increasingly powerful genetic approaches, more than 25 genes are now known to contribute to the mechanisms that predispose individuals to lupus. Over half of these loci have been discovered in the past 2 years, underscoring the extraordinary success of genome-wide association approaches in SLE. Well-established risk factors include alleles in the major histocompatibility complex region (multiple genes), IRF5, ITGAM, STAT4, BLK, BANK1, PDCD1, PTPN22, TNFSF4, TNFAIP3, SPP1, some of the Fcgamma receptors, and deficiencies in several complement components, including C1q, C4 and C2. As reviewed here, many susceptibility genes fall into key pathways that are consistent with previous studies implicating immune complexes, host immune signal transduction and interferon pathways in the pathogenesis of SLE. Other loci have no known function or apparent immunological role and have the potential to reveal novel disease mechanisms. Certainly, as our understanding of the genetic etiology of SLE continues to mature, important new opportunities will emerge for developing more effective diagnostic and clinical management tools for this complex autoimmune disease.

  7. Catecholaminergic systems in stress: structural and molecular genetic approaches.

    Science.gov (United States)

    Kvetnansky, Richard; Sabban, Esther L; Palkovits, Miklos

    2009-04-01

    Stressful stimuli evoke complex endocrine, autonomic, and behavioral responses that are extremely variable and specific depending on the type and nature of the stressors. We first provide a short overview of physiology, biochemistry, and molecular genetics of sympatho-adrenomedullary, sympatho-neural, and brain catecholaminergic systems. Important processes of catecholamine biosynthesis, storage, release, secretion, uptake, reuptake, degradation, and transporters in acutely or chronically stressed organisms are described. We emphasize the structural variability of catecholamine systems and the molecular genetics of enzymes involved in biosynthesis and degradation of catecholamines and transporters. Characterization of enzyme gene promoters, transcriptional and posttranscriptional mechanisms, transcription factors, gene expression and protein translation, as well as different phases of stress-activated transcription and quantitative determination of mRNA levels in stressed organisms are discussed. Data from catecholamine enzyme gene knockout mice are shown. Interaction of catecholaminergic systems with other neurotransmitter and hormonal systems are discussed. We describe the effects of homotypic and heterotypic stressors, adaptation and maladaptation of the organism, and the specificity of stressors (physical, emotional, metabolic, etc.) on activation of catecholaminergic systems at all levels from plasma catecholamines to gene expression of catecholamine enzymes. We also discuss cross-adaptation and the effect of novel heterotypic stressors on organisms adapted to long-term monotypic stressors. The extra-adrenal nonneuronal adrenergic system is described. Stress-related central neuronal regulatory circuits and central organization of responses to various stressors are presented with selected examples of regulatory molecular mechanisms. Data summarized here indicate that catecholaminergic systems are activated in different ways following exposure to distinct

  8. Systems Genetics Analysis to Identify the Genetic Modulation of a Glaucoma-Associated Gene.

    Science.gov (United States)

    Chintalapudi, Sumana R; Jablonski, Monica M

    2017-01-01

    Loss of retinal ganglion cells (RGCs) is one of the hallmarks of retinal neurodegenerative diseases, glaucoma being one of the most common. Recently, γ-synuclein (SNCG) was shown to be highly expressed in the somas and axons of RGCs. In various mouse models of glaucoma, downregulation of Sncg gene expression correlates with RGC loss. To investigate the regulation of Sncg in RGCs, we used a systems genetics approach to identify a gene that modulates the expression of Sncg, followed by confirmatory studies in both healthy and diseased retinas. We found that chromosome 1 harbors an eQTL that modulates the expression of Sncg in the mouse retina and identified Pfdn2 as the candidate upstream modulator of Sncg expression. Downregulation of Pfdn2 in enriched RGCs causes a concomitant reduction in Sncg. In this chapter, we describe our strategy and methods for identifying and confirming a genetic modulation of a glaucoma-associated gene. A similar method can be applied to other genes expressed in other tissues.

  9. Phylogenetic and population genetic analyses of diploid Leucaena (Leguminosae; Mimosoideae) reveal cryptic species diversity and patterns of divergent allopatric speciation.

    Science.gov (United States)

    Govindarajulu, Rajanikanth; Hughes, Colin E; Bailey, C Donovan

    2011-12-01

    Leucaena comprises 17 diploid species, five tetraploid species, and a complex series of hybrids whose evolutionary histories have been influenced by human seed translocation, cultivation, and subsequent spontaneous hybridization. Here we investigated patterns of evolutionary divergence among diploid Leucaena through comprehensively sampled multilocus phylogenetic and population genetic approaches to address species delimitation, interspecific relationships, hybridization, and the predominant mode of speciation among diploids. Parsimony- and maximum-likelihood-based phylogenetic approaches were applied to 59 accessions sequenced for six SCAR-based nuclear loci, nrDNA ITS, and four cpDNA regions. Population genetic comparisons included 1215 AFLP loci representing 42 populations and 424 individuals. Phylogenetic results provided a well-resolved hypothesis of divergent species relationships, recovering previously recognized clades of diploids as well as newly resolved relationships. Phylogenetic and population genetic assessments identified two cryptic species that are consistent with geography and morphology. Findings from this study highlight the importance and utility of multilocus data in the recovery of complex evolutionary histories. The results are consistent with allopatric divergence representing the predominant mode of speciation among diploid Leucaena. These findings contrast with the potential hybrid origin of several tetraploid species and highlight the importance of human translocation of seed to the origin of these tetraploids. The recognition of one previously unrecognized species (L. cruziana) and the elevation of another taxon (L. collinsii subsp. zacapana) to specific status (L. zacapana) is consistent with a growing number of newly diagnosed species from neotropical seasonally dry forests, suggesting these communities harbor greater species diversity than previously recognized.

  10. Forensic and population genetic analyses of Danes, Greenlanders and Somalis typed with the Yfiler® Plus PCR amplification kit

    DEFF Research Database (Denmark)

    Olofsson, Jill Katharina; Mogensen, Helle Smidt; Buchard, Anders

    2015-01-01

    (®) in the same individuals. Forensic and population genetic parameters were estimated for Yfiler(®) Plus. Yfiler(®) Plus had a higher power of discrimination than Yfiler(®) in all three populations. Compared to Yfiler(®), Yfiler(®) Plus offers increased power of discrimination, which is obviously an advantage...... in crime case investigations. However, the inclusion of seven RM Y-STRs in Yfiler(®) Plus makes it less attractive for relationship testing because of the relatively high combined mutation rate, approximately 15%....

  11. Advanced exergy-based analyses applied to a system including LNG regasification and electricity generation

    Energy Technology Data Exchange (ETDEWEB)

    Morosuk, Tatiana; Tsatsaronis, George; Boyano, Alicia; Gantiva, Camilo [Technische Univ. Berlin (Germany)

    2012-07-01

    Liquefied natural gas (LNG) will contribute more in the future than in the past to the overall energy supply in the world. The paper discusses the application of advanced exergy-based analyses to a recently developed LNG-based cogeneration system. These analyses include advanced exergetic, advanced exergoeconomic, and advanced exergoenvironmental analyses in which thermodynamic inefficiencies (exergy destruction), costs, and environmental impacts have been split into avoidable and unavoidable parts. With the aid of these analyses, the potentials for improving the thermodynamic efficiency and for reducing the overall cost and the overall environmental impact are revealed. The objectives of this paper are to demonstrate (a) the potential for generating electricity while regasifying LNG and (b) some of the capabilities associated with advanced exergy-based methods. The most important subsystems and components are identified, and suggestions for improving them are made. (orig.)

  12. Soil microbial community structure in diverse land use systems:A comparative study using Biolog,DGGE,and PLFA analyses

    Institute of Scientific and Technical Information of China (English)

    XUE Dong; YAO Huai-Ying; GE De-Yong; HUANG Chang-Yong

    2008-01-01

    Biolog,16S rRNA gene denaturing gradient gel electrophoresis (DGGE),and phospholipid fatty acid (PLFA) analyses were used to assess soil microbial community characteristics in a chronosequence of tea garden systems (8-,50-,and 90year-old tea gardens),an adjacent wasteland,and a 90-year-old forest.Biolog analysis showed that the average well color development (AWCD) of all carbon sources and the functional diversity based on the Shannon index decreased (P<0.05)in the following order:wasteland>forest>tea garden.For the DGGE analysis,the genetic diversity based on the Shannon index was significantly lower in the tea garden soils than in the wasteland.However,compared to the 90-year-old forest,the tea garden soils showed significantly higher genetic diversity.PLFA analysis showed that the ratio of Gram positive bacteria to Gram negative bacteria was significantly higher in the tea garden soils than in the wasteland,and the highest value was found in the 90-year-old forest.Both the fungal PLFA and the ratio of fungi to bacteria were significantly higher in the three tea garden soils than in the wasteland and forest,indicating that fungal PLFA was significantly affected by land-use change.Based on cluster analysis of the soil microbial community structure,all three analytical methods showed that land-use change had a greater effect on soil microbial community structure than tea garden age.

  13. Reduced scale PWR passive safety system designing by genetic algorithms

    International Nuclear Information System (INIS)

    Cunha, Joao J. da; Alvim, Antonio Carlos M.; Lapa, Celso Marcelo Franklin

    2007-01-01

    This paper presents the concept of 'Design by Genetic Algorithms (DbyGA)', applied to a new reduced scale system problem. The design problem of a passive thermal-hydraulic safety system, considering dimensional and operational constraints, has been solved. Taking into account the passive safety characteristics of the last nuclear reactor generation, a PWR core under natural circulation is used in order to demonstrate the methodology applicability. The results revealed that some solutions (reduced scale system DbyGA) are capable of reproducing, both accurately and simultaneously, much of the physical phenomena that occur in real scale and operating conditions. However, some aspects, revealed by studies of cases, pointed important possibilities to DbyGA methodological performance improvement

  14. A genetic fuzzy system for unstable angina risk assessment.

    Science.gov (United States)

    Dong, Wei; Huang, Zhengxing; Ji, Lei; Duan, Huilong

    2014-02-18

    Unstable Angina (UA) is widely accepted as a critical phase of coronary heart disease with patients exhibiting widely varying risks. Early risk assessment of UA is at the center of the management program, which allows physicians to categorize patients according to the clinical characteristics and stratification of risk and different prognosis. Although many prognostic models have been widely used for UA risk assessment in clinical practice, a number of studies have highlighted possible shortcomings. One serious drawback is that existing models lack the ability to deal with the intrinsic uncertainty about the variables utilized. In order to help physicians refine knowledge for the stratification of UA risk with respect to vagueness in information, this paper develops an intelligent system combining genetic algorithm and fuzzy association rule mining. In detail, it models the input information's vagueness through fuzzy sets, and then applies a genetic fuzzy system on the acquired fuzzy sets to extract the fuzzy rule set for the problem of UA risk assessment. The proposed system is evaluated using a real data-set collected from the cardiology department of a Chinese hospital, which consists of 54 patient cases. 9 numerical patient features and 17 categorical patient features that appear in the data-set are selected in the experiments. The proposed system made the same decisions as the physician in 46 (out of a total of 54) tested cases (85.2%). By comparing the results that are obtained through the proposed system with those resulting from the physician's decision, it has been found that the developed model is highly reflective of reality. The proposed system could be used for educational purposes, and with further improvements, could assist and guide young physicians in their daily work.

  15. Genetic learning in rule-based and neural systems

    Science.gov (United States)

    Smith, Robert E.

    1993-01-01

    The design of neural networks and fuzzy systems can involve complex, nonlinear, and ill-conditioned optimization problems. Often, traditional optimization schemes are inadequate or inapplicable for such tasks. Genetic Algorithms (GA's) are a class of optimization procedures whose mechanics are based on those of natural genetics. Mathematical arguments show how GAs bring substantial computational leverage to search problems, without requiring the mathematical characteristics often necessary for traditional optimization schemes (e.g., modality, continuity, availability of derivative information, etc.). GA's have proven effective in a variety of search tasks that arise in neural networks and fuzzy systems. This presentation begins by introducing the mechanism and theoretical underpinnings of GA's. GA's are then related to a class of rule-based machine learning systems called learning classifier systems (LCS's). An LCS implements a low-level production-system that uses a GA as its primary rule discovery mechanism. This presentation illustrates how, despite its rule-based framework, an LCS can be thought of as a competitive neural network. Neural network simulator code for an LCS is presented. In this context, the GA is doing more than optimizing and objective function. It is searching for an ecology of hidden nodes with limited connectivity. The GA attempts to evolve this ecology such that effective neural network performance results. The GA is particularly well adapted to this task, given its naturally-inspired basis. The LCS/neural network analogy extends itself to other, more traditional neural networks. Conclusions to the presentation discuss the implications of using GA's in ecological search problems that arise in neural and fuzzy systems.

  16. Minding the gap: Frequency of indels in mtDNA control region sequence data and influence on population genetic analyses

    Science.gov (United States)

    Pearce, J.M.

    2006-01-01

    Insertions and deletions (indels) result in sequences of various lengths when homologous gene regions are compared among individuals or species. Although indels are typically phylogenetically informative, occurrence and incorporation of these characters as gaps in intraspecific population genetic data sets are rarely discussed. Moreover, the impact of gaps on estimates of fixation indices, such as FST, has not been reviewed. Here, I summarize the occurrence and population genetic signal of indels among 60 published studies that involved alignments of multiple sequences from the mitochondrial DNA (mtDNA) control region of vertebrate taxa. Among 30 studies observing indels, an average of 12% of both variable and parsimony-informative sites were composed of these sites. There was no consistent trend between levels of population differentiation and the number of gap characters in a data block. Across all studies, the average influence on estimates of ??ST was small, explaining only an additional 1.8% of among population variance (range 0.0-8.0%). Studies most likely to observe an increase in ??ST with the inclusion of gap characters were those with control region DNA appears small, dependent upon total number of variable sites in the data block, and related to species-specific characteristics and the spatial distribution of mtDNA lineages that contain indels. ?? 2006 Blackwell Publishing Ltd.

  17. Using trajectory analyses to refine phenotype for genetic association: conduct problems and the serotonin transporter (5HTTLPR).

    Science.gov (United States)

    Sakai, Joseph T; Boardman, Jason D; Gelhorn, Heather L; Smolen, Andrew; Corley, Robin P; Huizinga, David; Menard, Scott; Hewitt, John K; Stallings, Michael C

    2010-10-01

    Conduct disorder is a serious, relatively common disorder of childhood and adolescence. Findings from genetic association studies searching for genetic determinants of the liability toward such behaviors have been inconsistent. One possible explanation for differential results is that most studies define phenotype from a single assessment; for many adolescents conduct problems decrease in severity over time, whereas for others such behaviors persist. Therefore, longitudinal datasets offer the opportunity to refine phenotype. We used Caucasians that were first assessed during adolescence from the National Youth Survey Family Study. Nine waves of data were used to create latent growth trajectories and test for associations between trajectory class and 5HTTLPR genotype. For the full sample, 5HTTLPR was not associated with conduct problem phenotypes. However, the short (s) allele was associated with chronic conduct problems in females; a nominally significant sex by 5HTTLPR genotype interaction was noted. Longitudinal studies provide unique opportunities for phenotypic refinement and such techniques, with large samples, may be useful for phenotypic definition with other study designs, such as whole genome association studies.

  18. Systems level analysis of systemic sclerosis shows a network of immune and profibrotic pathways connected with genetic polymorphisms.

    Directory of Open Access Journals (Sweden)

    J Matthew Mahoney

    2015-01-01

    Full Text Available Systemic sclerosis (SSc is a rare systemic autoimmune disease characterized by skin and organ fibrosis. The pathogenesis of SSc and its progression are poorly understood. The SSc intrinsic gene expression subsets (inflammatory, fibroproliferative, normal-like, and limited are observed in multiple clinical cohorts of patients with SSc. Analysis of longitudinal skin biopsies suggests that a patient's subset assignment is stable over 6-12 months. Genetically, SSc is multi-factorial with many genetic risk loci for SSc generally and for specific clinical manifestations. Here we identify the genes consistently associated with the intrinsic subsets across three independent cohorts, show the relationship between these genes using a gene-gene interaction network, and place the genetic risk loci in the context of the intrinsic subsets. To identify gene expression modules common to three independent datasets from three different clinical centers, we developed a consensus clustering procedure based on mutual information of partitions, an information theory concept, and performed a meta-analysis of these genome-wide gene expression datasets. We created a gene-gene interaction network of the conserved molecular features across the intrinsic subsets and analyzed their connections with SSc-associated genetic polymorphisms. The network is composed of distinct, but interconnected, components related to interferon activation, M2 macrophages, adaptive immunity, extracellular matrix remodeling, and cell proliferation. The network shows extensive connections between the inflammatory- and fibroproliferative-specific genes. The network also shows connections between these subset-specific genes and 30 SSc-associated polymorphic genes including STAT4, BLK, IRF7, NOTCH4, PLAUR, CSK, IRAK1, and several human leukocyte antigen (HLA genes. Our analyses suggest that the gene expression changes underlying the SSc subsets may be long-lived, but mechanistically interconnected

  19. Systems Analyses Reveal Shared and Diverse Attributes of Oct4 Regulation in Pluripotent Cells

    DEFF Research Database (Denmark)

    Ding, Li; Paszkowski-Rogacz, Maciej; Winzi, Maria

    2015-01-01

    We combine a genome-scale RNAi screen in mouse epiblast stem cells (EpiSCs) with genetic interaction, protein localization, and "protein-level dependency" studies-a systematic technique that uncovers post-transcriptional regulation-to delineate the network of factors that control the expression...... of Oct4, a key regulator of pluripotency. Our data signify that there are similarities, but also fundamental differences in Oct4 regulation in EpiSCs versus embryonic stem cells (ESCs). Through multiparametric data analyses, we predict that Tox4 is associating with the Paf1C complex, which maintains cell...... identity in both cell types, and validate that this protein-protein interaction exists in ESCs and EpiSCs. We also identify numerous knockdowns that increase Oct4 expression in EpiSCs, indicating that, in stark contrast to ESCs, Oct4 is under active repressive control in EpiSCs. These studies provide...

  20. PID-Controller Tuning Optimization with Genetic Algorithms in Servo Systems

    Directory of Open Access Journals (Sweden)

    Arturo Y. Jaen-Cuellar

    2013-09-01

    Full Text Available Performance improvement is the main goal of the study of PID control and much research has been conducted for this purpose. The PID filter is implemented in almost all industrial processes because of its well-known beneficial features. In general, the whole system's performance strongly depends on the controller's efficiency and hence the tuning process plays a key role in the system's behaviour. In this work, the servo systems will be analysed, specifically the positioning control systems. Among the existent tuning methods, the Gain-Phase Margin method based on Frequency Response analysis is the most adequate for controller tuning in positioning control systems. Nevertheless, this method can be improved by integrating an optimization technique. The novelty of this work is the development of a new methodology for PID control tuning by coupling the Gain-Phase Margin method with the Genetic Algorithms in which the micro-population concept and adaptive mutation probability are applied. Simulations using a positioning system model in MATLAB and experimental tests in two CNC machines and an industrial robot are carried out in order to show the effectiveness of the proposal. The obtained results are compared with both the classical Gain-Phase Margin tuning and with a recent PID controller optimization using Genetic Algorithms based on real codification. The three methodologies are implemented using software.

  1. Energy and exergy analyses of an integrated solar heat pump system

    International Nuclear Information System (INIS)

    Suleman, F.; Dincer, I.; Agelin-Chaab, M.

    2014-01-01

    An integrated solar and heat pump based system for industrial heating is developed in this study. The system comprises heat pump cycle for process heating water and solar energy for another industrial heating process. Comprehensive energy and exergy analyses are performed on the system. These analyses generated some compelling results as expected because of the use of green and environmentally friendly energy sources. The results show that the energy efficiency of the process is 58% while the exergy efficiency is 75%. Energetic COP of the heat pump cycle is 3.54 whereas the exergy efficiency is 42.5%. Moreover, the energetic COP of the system is 2.97 and the exergy efficiency of the system is 35.7%. In the parametric study, a different variation such as changing the temperature and pressure of the condenser also shows positive results. - Highlights: • An integrated system is analysed using renewable energy source which can be used in textile industry. • Energy losses and exergy destructions are calculated at all major components. • Energy and exergy efficiencies of all subunits, subsystems and overall system are determined. • A parametric study shows the effect of environment and operating conditions on efficiencies. • Solar energy for heating in textile industry is efficient and environmentally friendly

  2. University Students' Knowledge Structures and Informal Reasoning on the Use of Genetically Modified Foods: Multidimensional Analyses

    Science.gov (United States)

    Wu, Ying-Tien

    2013-01-01

    This study aims to provide insights into the role of learners' knowledge structures about a socio-scientific issue (SSI) in their informal reasoning on the issue. A total of 42 non-science major university students' knowledge structures and informal reasoning were assessed with multidimensional analyses. With both qualitative and…

  3. Analyses of genetic relationships between linear type traits, fat-to-protein ratio, milk production traits, and somatic cell count in first-parity Czech Holstein cows

    DEFF Research Database (Denmark)

    Zink, V; Zavadilová, L; Lassen, Jan

    2014-01-01

    . The number of animals for each linear type trait was 59 454, except for locomotion, for which 53 424 animals were recorded. The numbers of animals with records of milk production data were 43 992 for milk yield, fat percentage, protein percentage, and fat-to-protein percentage ratio and 43 978 for fat yield...... and protein yield. In total, 27 098 somatic cell score records were available. The strongest positive genetic correlation between production traits and linear type traits was estimated between udder width and fat yield (0.51 ± 0.04), while the strongest negative correlation estimated was between body......Genetic and phenotypic correlations between production traits, selected linear type traits, and somatic cell score were estimated. The results could be useful for breeding programs involving Czech Holstein dairy cows or other populations. A series of bivariate analyses was applied whereby (co...

  4. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  5. Neuro-genetic system for optimization of GMI samples sensitivity.

    Science.gov (United States)

    Pitta Botelho, A C O; Vellasco, M M B R; Hall Barbosa, C R; Costa Silva, E

    2016-03-01

    Magnetic sensors are largely used in several engineering areas. Among them, magnetic sensors based on the Giant Magnetoimpedance (GMI) effect are a new family of magnetic sensing devices that have a huge potential for applications involving measurements of ultra-weak magnetic fields. The sensitivity of magnetometers is directly associated with the sensitivity of their sensing elements. The GMI effect is characterized by a large variation of the impedance (magnitude and phase) of a ferromagnetic sample, when subjected to a magnetic field. Recent studies have shown that phase-based GMI magnetometers have the potential to increase the sensitivity by about 100 times. The sensitivity of GMI samples depends on several parameters, such as sample length, external magnetic field, DC level and frequency of the excitation current. However, this dependency is yet to be sufficiently well-modeled in quantitative terms. So, the search for the set of parameters that optimizes the samples sensitivity is usually empirical and very time consuming. This paper deals with this problem by proposing a new neuro-genetic system aimed at maximizing the impedance phase sensitivity of GMI samples. A Multi-Layer Perceptron (MLP) Neural Network is used to model the impedance phase and a Genetic Algorithm uses the information provided by the neural network to determine which set of parameters maximizes the impedance phase sensitivity. The results obtained with a data set composed of four different GMI sample lengths demonstrate that the neuro-genetic system is able to correctly and automatically determine the set of conditioning parameters responsible for maximizing their phase sensitivities. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. Understanding genetic variation - the value of systems biology.

    Science.gov (United States)

    Hütt, Marc-Thorsten

    2014-04-01

    Pharmacology is currently transformed by the vast amounts of genome-associated information available for system-level interpretation. Here I review the potential of systems biology to facilitate this interpretation, thus paving the way for the emerging field of systems pharmacology. In particular, I will show how gene regulatory and metabolic networks can serve as a framework for interpreting high throughput data and as an interface to detailed dynamical models. In addition to the established connectivity analyses of effective networks, I suggest here to also analyze higher order architectural properties of effective networks. © 2013 The British Pharmacological Society.

  7. Engineering design and exergy analyses for combustion gas turbine based power generation system

    International Nuclear Information System (INIS)

    Sue, D.-C.; Chuang, C.-C.

    2004-01-01

    This paper presents the engineering design and theoretical exergetic analyses of the plant for combustion gas turbine based power generation systems. Exergy analysis is performed based on the first and second laws of thermodynamics for power generation systems. The results show the exergy analyses for a steam cycle system predict the plant efficiency more precisely. The plant efficiency for partial load operation is lower than full load operation. Increasing the pinch points will decrease the combined cycle plant efficiency. The engineering design is based on inlet air-cooling and natural gas preheating for increasing the net power output and efficiency. To evaluate the energy utilization, one combined cycle unit and one cogeneration system, consisting of gas turbine generators, heat recovery steam generators, one steam turbine generator with steam extracted for process have been analyzed. The analytical results are used for engineering design and component selection

  8. Reliability analyses of safety systems for WWER-440 nuclear power plants

    International Nuclear Information System (INIS)

    Dusek, J.; Hojny, V.

    1985-01-01

    The UJV in Rez near Prague studied the reliability of the system of emergency core cooling and of the system for suppressing pressure in the sealed area of the nuclear power plant in the occurrence of a loss-of-coolant accident. The reliability of the systems was evaluated by failure tree analysis. Simulation and analytical calculation programs were developed and used for the reliability analysis. The results are briefly presented of the reliability analyses of the passive system for the immediate short-term flooding of the reactor core, of the active low-pressure system of emergency core cooling, the spray system, the bubble-vacuum system and the system of emergency supply of the steam generators. (E.S.)

  9. Initial testing of a neutron activation analysis system by analysing standard reference materials

    International Nuclear Information System (INIS)

    Suhaimi Hamzah; Roslan Idris; Abdul Khalik Haji Wood; Che Seman Mahmood; Abdul Rahim Mohamad Noor.

    1983-01-01

    This paper describes the data acquisition and processing system in our laboratories (ND6600), the methods of activation analysis and the results obtained from our analysis of IAEA standard reference material (SL-l lake sediments and NBS coal ash 1632a). These standards were analysed in order to check the capability of the system, which was designed in such a way as to enable the user to independently collect and process data from multiple radiation detectors. (author)

  10. Performance Assessment Modeling and Sensitivity Analyses of Generic Disposal System Concepts.

    Energy Technology Data Exchange (ETDEWEB)

    Sevougian, S. David; Freeze, Geoffrey A.; Gardner, William Payton; Hammond, Glenn Edward; Mariner, Paul

    2014-09-01

    directly, rather than through simplified abstractions. It also a llows for complex representations of the source term, e.g., the explicit representation of many individual waste packages (i.e., meter - scale detail of an entire waste emplacement drift). This report fulfills the Generic Disposal System Analysis Work Packa ge Level 3 Milestone - Performance Assessment Modeling and Sensitivity Analyses of Generic Disposal System Concepts (M 3 FT - 1 4 SN08080 3 2 ).

  11. The development of the microcomputer controlling system for micro uranium on-line analyser

    CERN Document Server

    Ye Guo Qiang

    2002-01-01

    The author presents the microcomputer controlling system for micro uranium on-line analyser under Windows 3.2 system (Chinese). The user program is designed with Visual Basic 4.0, the program of controlling the hardware interface with Windows Dynamic Linking Library (DLL) which is programmed by Borland C sup + sup + 4.5, and the date processing is with Access 2.0 database

  12. Common heritable effects underpin concerns over norm maintenance and in-group favoritism: evidence from genetic analyses of right-wing authoritarianism and traditionalism.

    Science.gov (United States)

    Lewis, Gary J; Bates, Timothy C

    2014-08-01

    Research has shown that in-group favoritism is associated with concerns over the maintenance of social norms. Here we present two studies examining whether genetic factors underpin this association. A classical twin design was used to decompose phenotypic variance into genetic and environmental components in two studies. Study 1 used 812 pairs of adult U.S. twins from the nationally representative MIDUS II sample. Study 2 used 707 pairs of middle-age twins from the Minnesota Twin Registry. In-group favoritism was measured with scales tapping preferences for in-group (vs. out-group) individuals; norm concerns were measured with the Multidimensional Personality Questionnaire-Traditionalism (Study 1) and Right-Wing Authoritarianism (RWA; Study 2) scales. In Study 1, heritable effects underlying traditionalism were moderately (c. 35%) overlapping with the genetic variance underpinning in-group favoritism. In Study 2, heritable influences on RWA were entirely shared with the heritable effects on in-group favoritism. Moreover, we observed that Big Five Openness shared common genetic links to both RWA and in-group favoritism. These results suggest that, at the genetic level, in-group favoritism is linked with a system related to concern over normative social practices, which is, in turn, partially associated with trait Openness. © 2013 Wiley Periodicals, Inc.

  13. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  14. Solar power satellite system definition study. Volume 7, phase 1: SPS and rectenna systems analyses

    Science.gov (United States)

    1979-01-01

    A systems definition study of the solar power satellite systems is presented. The design and power distribution of the rectenna system is discussed. The communication subsystem and thermal control characteristics are described and a failure analysis performed on the systems is reported.

  15. Genetic influences on political ideologies: twin analyses of 19 measures of political ideologies from five democracies and genome-wide findings from three populations.

    Science.gov (United States)

    Hatemi, Peter K; Medland, Sarah E; Klemmensen, Robert; Oskarsson, Sven; Littvay, Levente; Dawes, Christopher T; Verhulst, Brad; McDermott, Rose; Nørgaard, Asbjørn Sonne; Klofstad, Casey A; Christensen, Kaare; Johannesson, Magnus; Magnusson, Patrik K E; Eaves, Lindon J; Martin, Nicholas G

    2014-05-01

    Almost 40 years ago, evidence from large studies of adult twins and their relatives suggested that between 30 and 60% of the variance in social and political attitudes could be explained by genetic influences. However, these findings have not been widely accepted or incorporated into the dominant paradigms that explain the etiology of political ideology. This has been attributed in part to measurement and sample limitations, as well the relative absence of molecular genetic studies. Here we present results from original analyses of a combined sample of over 12,000 twins pairs, ascertained from nine different studies conducted in five democracies, sampled over the course of four decades. We provide evidence that genetic factors play a role in the formation of political ideology, regardless of how ideology is measured, the era, or the population sampled. The only exception is a question that explicitly uses the phrase "Left-Right". We then present results from one of the first genome-wide association studies on political ideology using data from three samples: a 1990 Australian sample involving 6,894 individuals from 3,516 families; a 2008 Australian sample of 1,160 related individuals from 635 families and a 2010 Swedish sample involving 3,334 individuals from 2,607 families. No polymorphisms reached genome-wide significance in the meta-analysis. The combined evidence suggests that political ideology constitutes a fundamental aspect of one's genetically informed psychological disposition, but as Fisher proposed long ago, genetic influences on complex traits will be composed of thousands of markers of very small effects and it will require extremely large samples to have enough power in order to identify specific polymorphisms related to complex social traits.

  16. Genetic Influences on Political Ideologies: Twin Analyses of 19 Measures of Political Ideologies from Five Democracies and Genome-Wide Findings from Three Populations

    Science.gov (United States)

    Hatemi, Peter K.; Medland, Sarah E.; Klemmensen, Robert; Oskarrson, Sven; Littvay, Levente; Dawes, Chris; Verhulst, Brad; McDermott, Rose; Nørgaard, Asbjørn Sonne; Klofstad, Casey; Christensen, Kaare; Johannesson, Magnus; Magnusson, Patrik K.E.; Eaves, Lindon J.; Martin, Nicholas G.

    2014-01-01

    Almost forty years ago, evidence from large studies of adult twins and their relatives suggested that between 30-60% of the variance in social and political attitudes could be explained by genetic influences. However, these findings have not been widely accepted or incorporated into the dominant paradigms that explain the etiology of political ideology. This has been attributed in part to measurement and sample limitations, as well the relative absence of molecular genetic studies. Here we present results from original analyses of a combined sample of over 12,000 twins pairs, ascertained from nine different studies conducted in five democracies, sampled over the course of four decades. We provide evidence that genetic factors play a role in the formation of political ideology, regardless of how ideology is measured, the era, or the population sampled. The only exception is a question that explicitly uses the phrase “Left-Right”. We then present results from one of the first genome-wide association studies on political ideology using data from three samples: a 1990 Australian sample involving 6,894 individuals from 3,516 families; a 2008 Australian sample of 1,160 related individuals from 635 families and a 2010 Swedish sample involving 3,334 individuals from 2,607 families. No polymorphisms reached genome-wide significance in the meta-analysis. The combined evidence suggests that political ideology constitutes a fundamental aspect of one’s genetically informed psychological disposition, but as Fisher proposed long ago, genetic influences on complex traits will be composed of thousands of markers of very small effects and it will require extremely large samples to have enough power in order to identify specific polymorphisms related to complex social traits. PMID:24569950

  17. Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

    Science.gov (United States)

    Leblond, Claire S.; Heinrich, Jutta; Delorme, Richard; Proepper, Christian; Betancur, Catalina; Huguet, Guillaume; Konyukh, Marina; Chaste, Pauline; Ey, Elodie; Rastam, Maria; Anckarsäter, Henrik; Nygren, Gudrun; Gillberg, I. Carina; Melke, Jonas; Toro, Roberto; Regnault, Beatrice; Fauchereau, Fabien; Mercati, Oriane; Lemière, Nathalie; Skuse, David; Poot, Martin; Holt, Richard; Monaco, Anthony P.; Järvelä, Irma; Kantojärvi, Katri; Vanhala, Raija; Curran, Sarah; Collier, David A.; Bolton, Patrick; Chiocchetti, Andreas; Klauck, Sabine M.; Poustka, Fritz; Freitag, Christine M.; Waltes, Regina; Kopp, Marnie; Duketis, Eftichia; Bacchelli, Elena; Minopoli, Fiorella; Ruta, Liliana; Battaglia, Agatino; Mazzone, Luigi; Maestrini, Elena; Sequeira, Ana F.; Oliveira, Barbara; Vicente, Astrid; Oliveira, Guiomar; Pinto, Dalila; Scherer, Stephen W.; Zelenika, Diana; Delepine, Marc; Lathrop, Mark; Bonneau, Dominique; Guinchat, Vincent; Devillard, Françoise; Assouline, Brigitte; Mouren, Marie-Christine; Leboyer, Marion; Gillberg, Christopher; Boeckers, Tobias M.; Bourgeron, Thomas

    2012-01-01

    Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23–4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11–q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the “multiple hit model” for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD. PMID:22346768

  18. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

    Directory of Open Access Journals (Sweden)

    Claire S Leblond

    2012-02-01

    Full Text Available Autism spectrum disorders (ASD are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls. We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4% patients and in 16 of 1,090 (1.5% controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70. In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013. Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.

  19. A Genetic System for the Thermophilic Acetogenic Bacterium Thermoanaerobacter kivui.

    Science.gov (United States)

    Basen, Mirko; Geiger, Irina; Henke, Laura; Müller, Volker

    2018-02-01

    urgent need to understand the carbon and electron flows through the Wood-Ljungdahl pathway and their links to energy conservation, which requires genetic manipulations such as deletion or overexpression of genes encoding putative key enzymes. Unfortunately, genetic systems have been reported for only a few acetogenic bacteria. Here, we demonstrate proof of concept for the genetic modification of the thermophilic acetogenic species Thermoanaerobacter kivui The genetic system will be used to study genes involved in biosynthesis and energy metabolism, and may further be applied to metabolically engineer T. kivui to produce fuels and chemicals. Copyright © 2018 American Society for Microbiology.

  20. Application of genetic algorithms to tuning fuzzy control systems

    Science.gov (United States)

    Espy, Todd; Vombrack, Endre; Aldridge, Jack

    1993-01-01

    Real number genetic algorithms (GA) were applied for tuning fuzzy membership functions of three controller applications. The first application is our 'Fuzzy Pong' demonstration, a controller that controls a very responsive system. The performance of the automatically tuned membership functions exceeded that of manually tuned membership functions both when the algorithm started with randomly generated functions and with the best manually-tuned functions. The second GA tunes input membership functions to achieve a specified control surface. The third application is a practical one, a motor controller for a printed circuit manufacturing system. The GA alters the positions and overlaps of the membership functions to accomplish the tuning. The applications, the real number GA approach, the fitness function and population parameters, and the performance improvements achieved are discussed. Directions for further research in tuning input and output membership functions and in tuning fuzzy rules are described.

  1. Type VI secretion systems of human gut Bacteroidales segregate into three genetic architectures, two of which are contained on mobile genetic elements.

    Science.gov (United States)

    Coyne, Michael J; Roelofs, Kevin G; Comstock, Laurie E

    2016-01-15

    Type VI secretion systems (T6SSs) are contact-dependent antagonistic systems employed by Gram negative bacteria to intoxicate other bacteria or eukaryotic cells. T6SSs were recently discovered in a few Bacteroidetes strains, thereby extending the presence of these systems beyond Proteobacteria. The present study was designed to analyze in a global nature the diversity, abundance, and properties of T6SSs in the Bacteroidales, the most predominant Gram negative bacterial order of the human gut. By performing extensive bioinformatics analyses and creating hidden Markov models for Bacteroidales Tss proteins, we identified 130 T6SS loci in 205 human gut Bacteroidales genomes. Of the 13 core T6SS proteins of Proteobacteria, human gut Bacteroidales T6SS loci encode orthologs of nine, and an additional five other core proteins not present in Proteobacterial T6SSs. The Bacteroidales T6SS loci segregate into three distinct genetic architectures with extensive DNA identity between loci of a given genetic architecture. We found that divergent DNA regions of a genetic architecture encode numerous types of effector and immunity proteins and likely include new classes of these proteins. TheT6SS loci of genetic architecture 1 are contained on highly similar integrative conjugative elements (ICEs), as are the T6SS loci of genetic architecture 2, whereas the T6SS loci of genetic architecture 3 are not and are confined to Bacteroides fragilis. Using collections of co-resident Bacteroidales strains from human subjects, we provide evidence for the transfer of genetic architecture 1 T6SS loci among co-resident Bacteroidales species in the human gut. However, we also found that established ecosystems can harbor strains with distinct T6SS of all genetic architectures. This is the first study to comprehensively analyze of the presence and diversity of T6SS loci within an order of bacteria and to analyze T6SSs of bacteria from a natural community. These studies demonstrate that more than

  2. Thermodynamic analyses and assessments of various thermal energy storage systems for buildings

    International Nuclear Information System (INIS)

    Caliskan, Hakan; Dincer, Ibrahim; Hepbasli, Arif

    2012-01-01

    Highlights: ► Proposing a novel latent (PCM), thermochemical and sensible (aquifer) TES combination for building heating. ► Performing comprehensive environmental, energy, exergy and sustainability analyses. ► Investigating the effect of varying dead state temperatures on the TESs. - Abstract: In this study, energetic, exergetic, environmental and sustainability analyses and their assessments are carried out for latent, thermochemical and sensible thermal energy storage (TES) systems for phase change material (PCM) supported building applications under varying environment (surrounding) temperatures. The present system consists of a floor heating system, System-I, System-II and System-III. The floor heating system stays at the building floor supported with a floor heating unit and pump. The System-I includes a latent TES system and a fan. The latent TES system is comprised of a PCM supported building envelope, in which from outside to inside; glass, transparent insulation material, PCM, air channel and insulation material are placed, respectively. Furthermore, System-II mainly has a solar-thermochemical TES while there are an aquifer TES and a heat pump in System-III. Among the TESs, the hot and cold wells of the aquifer TES have maximum exergetic efficiency values of 88.782% and 69.607% at 8 °C dead state temperature, respectively. According to the energy efficiency aspects of TESs, the discharging processes of the latent TES and the hot well of the aquifer TES possess the minimum and maximum values of 5.782% and 94.118% at 8 °C dead state temperature, respectively. Also, the fan used with the latent TES is the most environmentally-benign system component among the devices. Furthermore, the most sustainable TES is found for the aquifer TES while the worst sustainable system is the latent TES.

  3. System dynamic analyses on the JKJ mercury target and cold moderator systems

    International Nuclear Information System (INIS)

    Takahashi, Toshio; Kaminaga, Masanori; Kinoshita, Hidetaka; Aso, Tomokazu; Haga, Katsuhiro; Hino, Ryutaro

    2001-01-01

    The temperature responses of major points in a mercury target cooling system and in a cold moderator system of JKJ (JAERI/KEK Joint Project) were simulated by the analytical code MATLAB (SIMULINK). As a result, it was made clear that non-control of mercury temperature is the best way to control the mercury target cooling system. If the mercury temperature of the system is controlled by the PID control system using an outlet temperature of heat exchanger, the PID control system shows the characteristics of an on-off control system, and the temperature cannot be controlled. Analytical results also showed that mercury temperature remained below the boiling point of 356degC under 0.1 MPa during a transient at one cooling pump trip. Analytical results for the cold moderator system showed that the outlet temperature of cold moderator vessels could be kept within a temperature range of 1 k during steady-state conditions. (author)

  4. An automatic system to search, acquire, and analyse chromosomal aberrations obtained using FISH technique

    International Nuclear Information System (INIS)

    Esposito, R.D.

    2003-01-01

    Full text: Chromosomal aberrations (CA) analysis in peripheral blood lymphocytes is useful both in prenatal diagnoses and cancer cytogenetics, as well as in toxicology to determine the biologically significant dose of specific, both physical and chemical, genotoxic agents to which an individual is exposed. A useful cytogenetic technique for CAs analysis is Fluorescence-in-situ-Hybridization (FISH) which simplifies the automatic Identification and characterisation of aberrations, allowing the visualisation of chromosomes as bright signals on a dark background, and a fast analysis of stable aberrations, which are particularly interesting for late effects. The main limitation of CA analysis is the rarity with which these events occur, and therefore the time necessary to single out a statistically significant number of aberrant cells. In order to address this problem, a prototype system, capable of automatically searching, acquiring, and recognising chromosomal images of samples prepared using FISH, has been developed. The system is able to score large number of samples in a reasonable time using predefined search criteria. The system is based on the appropriately implemented and characterised automatic metaphase finder Metafer4 (MetaSystems), coupled with a specific module for the acquisition of high magnification metaphase images with any combination of fluorescence filters. These images are then analysed and classified using our software. The prototype is currently capable of separating normal metaphase images from presumed aberrant ones. This system is currently in use in our laboratories both by ourselves and by other researchers not involved in its development, in order to carry out analyses of CAs induced by ionising radiation. The prototype allows simple acquisition and management of large quantities of images and makes it possible to carry out methodological studies -such as the comparison of results obtained by different operators- as well as increasing the

  5. Multi-objective optimization of an underwater compressed air energy storage system using genetic algorithm

    International Nuclear Information System (INIS)

    Cheung, Brian C.; Carriveau, Rupp; Ting, David S.K.

    2014-01-01

    This paper presents the findings from a multi-objective genetic algorithm optimization study on the design parameters of an underwater compressed air energy storage system (UWCAES). A 4 MWh UWCAES system was numerically simulated and its energy, exergy, and exergoeconomics were analysed. Optimal system configurations were determined that maximized the UWCAES system round-trip efficiency and operating profit, and minimized the cost rate of exergy destruction and capital expenditures. The optimal solutions obtained from the multi-objective optimization model formed a Pareto-optimal front, and a single preferred solution was selected using the pseudo-weight vector multi-criteria decision making approach. A sensitivity analysis was performed on interest rates to gauge its impact on preferred system designs. Results showed similar preferred system designs for all interest rates in the studied range. The round-trip efficiency and operating profit of the preferred system designs were approximately 68.5% and $53.5/cycle, respectively. The cost rate of the system increased with interest rates. - Highlights: • UWCAES system configurations were developed using multi-objective optimization. • System was optimized for energy efficiency, exergy, and exergoeconomics • Pareto-optimal solution surfaces were developed at different interest rates. • Similar preferred system configurations were found at all interest rates studied

  6. Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2 in the pathophysiology of obesity.

    Directory of Open Access Journals (Sweden)

    Dorit Schleinitz

    2011-02-01

    Full Text Available Human bone morphogenetic protein receptor 2 (BMPR2 is essential for BMP signalling and may be involved in the regulation of adipogenesis. The BMPR2 locus has been suggested as target of recent selection in human populations. We hypothesized that BMPR2 might have a role in the pathophysiology of obesity.Evolutionary analyses (dN/dS, Fst, iHS were conducted in vertebrates and human populations. BMPR2 mRNA expression was measured in 190 paired samples of visceral and subcutaneous adipose tissue. The gene was sequenced in 48 DNA samples. Nine representative single nucleotide polymorphisms (SNPs were genotyped for subsequent association studies on quantitative traits related to obesity in 1830 German Caucasians. An independent cohort of 925 Sorbs was used for replication. Finally, relation of genotypes to mRNA in fat was examined.The evolutionary analyses indicated signatures of selection on the BMPR2 locus. BMPR2 mRNA expression was significantly increased both in visceral and subcutaneous adipose tissue of 37 overweight (BMI>25 and 30 kg/m² compared with 44 lean subjects (BMI< 25 kg/m² (P<0.001. In a case-control study including lean and obese subjects, two intronic SNPs (rs6717924, rs13426118 were associated with obesity (adjusted P<0.05. Combined analyses including the initial cohort and the Sorbs confirmed a consistent effect for rs6717924 (combined P = 0.01 on obesity. Moreover, rs6717924 was associated with higher BMPR2 mRNA expression in visceral adipose tissue.Combined BMPR2 genotype-phenotype-mRNA expression data as well as evolutionary aspects suggest a role of BMPR2 in the pathophysiology of obesity.

  7. Advanced Materials, Technologies, and Complex Systems Analyses: Emerging Opportunities to Enhance Urban Water Security.

    Science.gov (United States)

    Zodrow, Katherine R; Li, Qilin; Buono, Regina M; Chen, Wei; Daigger, Glen; Dueñas-Osorio, Leonardo; Elimelech, Menachem; Huang, Xia; Jiang, Guibin; Kim, Jae-Hong; Logan, Bruce E; Sedlak, David L; Westerhoff, Paul; Alvarez, Pedro J J

    2017-09-19

    Innovation in urban water systems is required to address the increasing demand for clean water due to population growth and aggravated water stress caused by water pollution, aging infrastructure, and climate change. Advances in materials science, modular water treatment technologies, and complex systems analyses, coupled with the drive to minimize the energy and environmental footprints of cities, provide new opportunities to ensure a resilient and safe water supply. We present a vision for enhancing efficiency and resiliency of urban water systems and discuss approaches and research needs for overcoming associated implementation challenges.

  8. Analyses of electromagnetic and piezoelectric systems for efficient vibration energy harvesting

    Science.gov (United States)

    Hadas, Z.; Smilek, J.; Rubes, O.

    2017-05-01

    The paper deals with analyses and evaluation of vibration energy harvesting systems which are based on electromagnetic and piezoelectric physical principles off electro-mechanical conversion. Energy harvesting systems are associated with wireless sensors and a monitoring of engineering objects. The most of engineering objects operate with unwanted mechanical vibrations. However, vibrations could provide an ambient source of energy which is converted into useful electricity. The use of electromagnetic and piezoelectric vibration energy harvesters is analyzed in this paper. Thee evaluated output power is used for a choice of the efficient system with respect to the character of vibrations and thee required power output.

  9. Genetic analyses using GGE model and a mixed linear model approach, and stability analyses using AMMI bi-plot for late-maturity alpha-amylase activity in bread wheat genotypes.

    Science.gov (United States)

    Rasul, Golam; Glover, Karl D; Krishnan, Padmanaban G; Wu, Jixiang; Berzonsky, William A; Fofana, Bourlaye

    2017-06-01

    Low falling number and discounting grain when it is downgraded in class are the consequences of excessive late-maturity α-amylase activity (LMAA) in bread wheat (Triticum aestivum L.). Grain expressing high LMAA produces poorer quality bread products. To effectively breed for low LMAA, it is necessary to understand what genes control it and how they are expressed, particularly when genotypes are grown in different environments. In this study, an International Collection (IC) of 18 spring wheat genotypes and another set of 15 spring wheat cultivars adapted to South Dakota (SD), USA were assessed to characterize the genetic component of LMAA over 5 and 13 environments, respectively. The data were analysed using a GGE model with a mixed linear model approach and stability analysis was presented using an AMMI bi-plot on R software. All estimated variance components and their proportions to the total phenotypic variance were highly significant for both sets of genotypes, which were validated by the AMMI model analysis. Broad-sense heritability for LMAA was higher in SD adapted cultivars (53%) compared to that in IC (49%). Significant genetic effects and stability analyses showed some genotypes, e.g. 'Lancer', 'Chester' and 'LoSprout' from IC, and 'Alsen', 'Traverse' and 'Forefront' from SD cultivars could be used as parents to develop new cultivars expressing low levels of LMAA. Stability analysis using an AMMI bi-plot revealed that 'Chester', 'Lancer' and 'Advance' were the most stable across environments, while in contrast, 'Kinsman', 'Lerma52' and 'Traverse' exhibited the lowest stability for LMAA across environments.

  10. Practical applications of probabilistic structural reliability analyses to primary pressure systems of nuclear power plants

    International Nuclear Information System (INIS)

    Witt, F.J.

    1980-01-01

    Primary pressure systems of nuclear power plants are built to exacting codes and standards with provisions for inservice inspection and repair if necessary. Analyses and experiments have demonstrated by deterministic means that very large margins exist on safety impacting failures under normal operating and upset conditions. Probabilistic structural reliability analyses provide additional support that failures of significance are very, very remote. They may range in degree of sophistication from very simple calculations to very complex computer analyses involving highly developed mathematical techniques. The end result however should be consistent with the desired usage. In this paper a probabilistic structural reliability analysis is performed as a supplement to in-depth deterministic evaluations with the primary objective to demonstrate an acceptably low probability of failure for the conditions considered. (author)

  11. Genetic Algorithm-Based Identification of Fractional-Order Systems

    Directory of Open Access Journals (Sweden)

    Shengxi Zhou

    2013-05-01

    Full Text Available Fractional calculus has become an increasingly popular tool for modeling the complex behaviors of physical systems from diverse domains. One of the key issues to apply fractional calculus to engineering problems is to achieve the parameter identification of fractional-order systems. A time-domain identification algorithm based on a genetic algorithm (GA is proposed in this paper. The multi-variable parameter identification is converted into a parameter optimization by applying GA to the identification of fractional-order systems. To evaluate the identification accuracy and stability, the time-domain output error considering the condition variation is designed as the fitness function for parameter optimization. The identification process is established under various noise levels and excitation levels. The effects of external excitation and the noise level on the identification accuracy are analyzed in detail. The simulation results show that the proposed method could identify the parameters of both commensurate rate and non-commensurate rate fractional-order systems from the data with noise. It is also observed that excitation signal is an important factor influencing the identification accuracy of fractional-order systems.

  12. Genetic analysis of fertility restoration under CGMS system in rice ...

    Indian Academy of Sciences (India)

    restore complete fertility of a certain CMS line by various restorer lines (Tan et ... Keywords. rice; heterosis; three-way test cross; fertility restoration genetics. Journal of ..... plants indicating a strong genetic load of maintenance in. DE2. Table 8.

  13. Identification of Nitrogen Consumption Genetic Variants in Yeast Through QTL Mapping and Bulk Segregant RNA-Seq Analyses.

    Science.gov (United States)

    Cubillos, Francisco A; Brice, Claire; Molinet, Jennifer; Tisné, Sebastién; Abarca, Valentina; Tapia, Sebastián M; Oporto, Christian; García, Verónica; Liti, Gianni; Martínez, Claudio

    2017-06-07

    Saccharomyces cerevisiae is responsible for wine must fermentation. In this process, nitrogen represents a limiting nutrient and its scarcity results in important economic losses for the wine industry. Yeast isolates use different strategies to grow in poor nitrogen environments and their genomic plasticity enables adaptation to multiple habitats through improvements in nitrogen consumption. Here, we used a highly recombinant S. cerevisiae multi-parent population (SGRP-4X) derived from the intercross of four parental strains of different origins to identify new genetic variants responsible for nitrogen consumption differences during wine fermentation. Analysis of 165 fully sequenced F12 segregants allowed us to map 26 QTL in narrow intervals for 14 amino acid sources and ammonium, the majority of which represent genomic regions previously unmapped for these traits. To complement this strategy, we performed Bulk segregant RNA-seq (BSR-seq) analysis in segregants exhibiting extremely high and low ammonium consumption levels. This identified several QTL overlapping differentially expressed genes and refined the gene candidate search. Based on these approaches, we were able to validate ARO1 , PDC1 , CPS1 , ASI2 , LYP1 , and ALP1 allelic variants underlying nitrogen consumption differences between strains, providing evidence of many genes with small phenotypic effects. Altogether, these variants significantly shape yeast nitrogen consumption with important implications for evolution, ecological, and quantitative genomics. Copyright © 2017 Cubillos et al.

  14. Identification of Nitrogen Consumption Genetic Variants in Yeast Through QTL Mapping and Bulk Segregant RNA-Seq Analyses

    Directory of Open Access Journals (Sweden)

    Francisco A. Cubillos

    2017-06-01

    Full Text Available Saccharomyces cerevisiae is responsible for wine must fermentation. In this process, nitrogen represents a limiting nutrient and its scarcity results in important economic losses for the wine industry. Yeast isolates use different strategies to grow in poor nitrogen environments and their genomic plasticity enables adaptation to multiple habitats through improvements in nitrogen consumption. Here, we used a highly recombinant S. cerevisiae multi-parent population (SGRP-4X derived from the intercross of four parental strains of different origins to identify new genetic variants responsible for nitrogen consumption differences during wine fermentation. Analysis of 165 fully sequenced F12 segregants allowed us to map 26 QTL in narrow intervals for 14 amino acid sources and ammonium, the majority of which represent genomic regions previously unmapped for these traits. To complement this strategy, we performed Bulk segregant RNA-seq (BSR-seq analysis in segregants exhibiting extremely high and low ammonium consumption levels. This identified several QTL overlapping differentially expressed genes and refined the gene candidate search. Based on these approaches, we were able to validate ARO1, PDC1, CPS1, ASI2, LYP1, and ALP1 allelic variants underlying nitrogen consumption differences between strains, providing evidence of many genes with small phenotypic effects. Altogether, these variants significantly shape yeast nitrogen consumption with important implications for evolution, ecological, and quantitative genomics.

  15. Analyses of Markov decision process structure regarding the possible strategic use of interacting memory systems

    Directory of Open Access Journals (Sweden)

    Eric A Zilli

    2008-12-01

    Full Text Available Behavioral tasks are often used to study the different memory systems present in humans and animals. Such tasks are usually designed to isolate and measure some aspect of a single memory system. However, it is not necessarily clear that any given task actually does isolate a system or that the strategy used by a subject in the experiment is the one desired by the experimenter. We have previously shown that when tasks are written mathematically as a form of partially-observable Markov decision processes, the structure of the tasks provide information regarding the possible utility of certain memory systems. These previous analyses dealt with the disambiguation problem: given a specific ambiguous observation of the environment, is there information provided by a given memory strategy that can disambiguate that observation to allow a correct decisionµ Here we extend this approach to cases where multiple memory systems can be strategically combined in different ways. Specifically, we analyze the disambiguation arising from three ways by which episodic-like memory retrieval might be cued (by another episodic-like memory, by a semantic association, or by working memory for some earlier observation. We also consider the disambiguation arising from holding earlier working memories, episodic-like memories or semantic associations in working memory. From these analyses we can begin to develop a quantitative hierarchy among memory systems in which stimulus-response memories and semantic associations provide no disambiguation while the episodic memory system provides the most flexible

  16. Comparative Genomic and Transcriptional Analyses of CRISPR Systems Across the Genus Pyrobaculum

    Directory of Open Access Journals (Sweden)

    David L Bernick

    2012-07-01

    Full Text Available Within the domain Archaea, the CRISPR immune system appears to be nearly ubiquitous based on computational genome analyses. Initial studies in bacteria demonstrated that the CRISPR system targets invading plasmid and viral DNA. Recent experiments in the model archaeon Pyrococcus furiosus uncovered a novel RNA-targeting variant of the CRISPR system potentially unique to archaea. Because our understanding of CRISPR system evolution in other archaea is limited, we have taken a comparative genomic and transcriptomic view of the CRISPR arrays across six diverse species within the crenarchaeal genus Pyrobaculum. We present transcriptional data from each of four species in the genus (P. aerophilum, P. islandicum, P. calidifontis, P. arsenaticum, analyzing mature CRISPR-associated small RNA abundance from over 20 arrays. Within the genus, there is remarkable conservation of CRISPR array structure, as well as unique features that are have not been studied in other archaeal systems. These unique features include: a nearly invariant CRISPR promoter, conservation of direct repeat families, the 5' polarity of CRISPR-associated small RNA abundance, and a novel CRISPR-specific association with homologues of nurA and herA. These analyses provide a genus-level evolutionary perspective on archaeal CRISPR systems, broadening our understanding beyond existing non-comparative model systems.

  17. Residential solar air conditioning: Energy and exergy analyses of an ammonia–water absorption cooling system

    International Nuclear Information System (INIS)

    Aman, J.; Ting, D.S.-K.; Henshaw, P.

    2014-01-01

    Large scale heat-driven absorption cooling systems are available in the marketplace for industrial applications but the concept of a solar driven absorption chiller for air-conditioning applications is relatively new. Absorption chillers have a lower efficiency than compression refrigeration systems, when used for small scale applications and this restrains the absorption cooling system from air conditioning applications in residential buildings. The potential of a solar driven ammonia–water absorption chiller for residential air conditioning application is discussed and analyzed in this paper. A thermodynamic model has been developed based on a 10 kW air cooled ammonia–water absorption chiller driven by solar thermal energy. Both energy and exergy analyses have been conducted to evaluate the performance of this residential scale cooling system. The analyses uncovered that the absorber is where the most exergy loss occurs (63%) followed by the generator (13%) and the condenser (11%). Furthermore, the exergy loss of the condenser and absorber greatly increase with temperature, the generator less so, and the exergy loss in the evaporator is the least sensitive to increasing temperature. -- Highlights: • 10 kW solar thermal driven ammonia–water air cooled absorption chiller is investigated. • Energy and exergy analyses have been done to enhance the thermal performance. • Low driving temperature heat sources have been optimized. • The efficiencies of the major components have been evaluated

  18. Modular 3-D solid finite element model for fatigue analyses of a PWR coolant system

    International Nuclear Information System (INIS)

    Garrido, Oriol Costa; Cizelj, Leon; Simonovski, Igor

    2012-01-01

    Highlights: ► A 3-D model of a reactor coolant system for fatigue usage assessment. ► The performed simulations are a heat transfer and stress analyses. ► The main results are the expected ranges of fatigue loadings. - Abstract: The extension of operational licenses of second generation pressurized water reactor (PWR) nuclear power plants depends to a large extent on the analyses of fatigue usage of the reactor coolant pressure boundary. The reliable estimation of the fatigue usage requires detailed thermal and stress analyses of the affected components. Analyses, based upon the in-service transient loads should be compared to the loads analyzed at the design stage. The thermal and stress transients can be efficiently analyzed using the finite element method. This requires that a 3-D solid model of a given system is discretized with finite elements (FE). The FE mesh density is crucial for both the accuracy and the cost of the analysis. The main goal of the paper is to propose a set of computational tools which assist a user in a deployment of modular spatial FE model of main components of a typical reactor coolant system, e.g., pipes, pressure vessels and pumps. The modularity ensures that the components can be analyzed individually or in a system. Also, individual components can be meshed with different mesh densities, as required by the specifics of the particular transient studied. For optimal accuracy, all components are meshed with hexahedral elements with quadratic interpolation. The performance of the model is demonstrated with simulations performed with a complete two-loop PWR coolant system (RCS). Heat transfer analysis and stress analysis for a complete loading and unloading cycle of the RCS are performed. The main results include expected ranges of fatigue loading for the pipe lines and coolant pump components under the given conditions.

  19. Mining microsatellites in the peach genome: development of new long-core SSR markers for genetic analyses in five Prunus species.

    Science.gov (United States)

    Dettori, Maria Teresa; Micali, Sabrina; Giovinazzi, Jessica; Scalabrin, Simone; Verde, Ignazio; Cipriani, Guido

    2015-01-01

    A wide inventory of molecular markers is nowadays available for individual fingerprinting. Microsatellites, or simple sequence repeats (SSRs), play a relevant role due to their relatively ease of use, their abundance in the plant genomes, and their co-dominant nature, together with the availability of primer sequences in many important agricultural crops. Microsatellites with long-core motifs are more easily scored and were adopted long ago in human genetics but they were developed only in few crops, and Prunus species are not among them. In the present work the peach whole-genome sequence was used to select 216 SSRs containing long-core motifs with tri-, tetra- and penta-nucleotide repeats. Microsatellite primer pairs were designed and tested for polymorphism in the five diploid Prunus species of economic relevance (almond, apricot, Japanese plum, peach and sweet cherry). A set of 26 microsatellite markers covering all the eight chromosomes, was also selected and used in the molecular characterization, population genetics and structure analyses of a representative sample of the five diploid Prunus species, assessing their transportability and effectiveness. The combined probability of identity between two random individuals for the whole set of 26 SSRs was quite low, ranging from 2.30 × 10(-7) in peach to 9.48 × 10(-10) in almond, confirming the usefulness of the proposed set for fingerprinting analyses in Prunus species.

  20. Genetic and Morphological Analyses Demonstrate That Schizolecis guntheri (Siluriformes: Loricariidae) Is Likely to Be a Species Complex

    Science.gov (United States)

    Souza, Camila S.; Costa-Silva, Guilherme J.; Roxo, Fábio F.; Foresti, Fausto; Oliveira, Claudio

    2018-01-01

    Schizolecis is a monotypic genus of Siluriformes widely distributed throughout isolated coastal drainages of southeastern Brazil. Previous studies have shown that fish groups found in isolated river basins tend to differentiate over time in the absence of gene flow, resulting in allopatric speciation. In this study, we used partial sequences of the mitochondrial gene COI with the analysis of the General Mixed Yule Coalescent model (GMYC) and the Automatic Barcode Gap Discovery (ABGD) for single locus species delimitation, and a Principal Component Analysis (PCA) of external morphology to test the hypothesis that Schizolecis guntheri is a complex of species. We analyzed 94 samples of S. guntheri for GMYC and ABGD, and 82 samples for PCA from 22 coastal rivers draining to the Atlantic in southeastern Brazil from the Paraná State to the north of the Rio de Janeiro State. As a result, the GMYC model and the ABGD delimited five operational taxonomy units (OTUs – a nomenclature referred to in the present study of the possible new species delimited for the genetic analysis), a much higher number compared to the traditional alfa taxonomy that only recognizes S. guntheri across the isolated coastal rivers of Brazil. Furthermore, the PCA analysis suggests that S. guntheri is highly variable in aspects of external body proportions, including dorsal-fin spine length, pectoral-fin spine length, pelvic-fin spine length, lower caudal-fin spine length, caudal peduncle depth, anal width and mandibular ramus length. However, no exclusive character was found among the isolated populations that could be used to describe a new species of Schizolecis. Therefore, we can conclude, based on our results of PCA contrasting with the results of GMYC and ABGD, that S. guntheri represents a complex of species. PMID:29552028

  1. Genetic and Morphological Analyses Demonstrate That Schizolecis guntheri (Siluriformes: Loricariidae) Is Likely to Be a Species Complex.

    Science.gov (United States)

    Souza, Camila S; Costa-Silva, Guilherme J; Roxo, Fábio F; Foresti, Fausto; Oliveira, Claudio

    2018-01-01

    Schizolecis is a monotypic genus of Siluriformes widely distributed throughout isolated coastal drainages of southeastern Brazil. Previous studies have shown that fish groups found in isolated river basins tend to differentiate over time in the absence of gene flow, resulting in allopatric speciation. In this study, we used partial sequences of the mitochondrial gene COI with the analysis of the General Mixed Yule Coalescent model (GMYC) and the Automatic Barcode Gap Discovery (ABGD) for single locus species delimitation, and a Principal Component Analysis (PCA) of external morphology to test the hypothesis that Schizolecis guntheri is a complex of species. We analyzed 94 samples of S. guntheri for GMYC and ABGD, and 82 samples for PCA from 22 coastal rivers draining to the Atlantic in southeastern Brazil from the Paraná State to the north of the Rio de Janeiro State. As a result, the GMYC model and the ABGD delimited five operational taxonomy units (OTUs - a nomenclature referred to in the present study of the possible new species delimited for the genetic analysis), a much higher number compared to the traditional alfa taxonomy that only recognizes S. guntheri across the isolated coastal rivers of Brazil. Furthermore, the PCA analysis suggests that S. guntheri is highly variable in aspects of external body proportions, including dorsal-fin spine length, pectoral-fin spine length, pelvic-fin spine length, lower caudal-fin spine length, caudal peduncle depth, anal width and mandibular ramus length. However, no exclusive character was found among the isolated populations that could be used to describe a new species of Schizolecis . Therefore, we can conclude, based on our results of PCA contrasting with the results of GMYC and ABGD, that S. guntheri represents a complex of species.

  2. Genetic and Morphological Analyses Demonstrate That Schizolecis guntheri (Siluriformes: Loricariidae Is Likely to Be a Species Complex

    Directory of Open Access Journals (Sweden)

    Camila S. Souza

    2018-03-01

    Full Text Available Schizolecis is a monotypic genus of Siluriformes widely distributed throughout isolated coastal drainages of southeastern Brazil. Previous studies have shown that fish groups found in isolated river basins tend to differentiate over time in the absence of gene flow, resulting in allopatric speciation. In this study, we used partial sequences of the mitochondrial gene COI with the analysis of the General Mixed Yule Coalescent model (GMYC and the Automatic Barcode Gap Discovery (ABGD for single locus species delimitation, and a Principal Component Analysis (PCA of external morphology to test the hypothesis that Schizolecis guntheri is a complex of species. We analyzed 94 samples of S. guntheri for GMYC and ABGD, and 82 samples for PCA from 22 coastal rivers draining to the Atlantic in southeastern Brazil from the Paraná State to the north of the Rio de Janeiro State. As a result, the GMYC model and the ABGD delimited five operational taxonomy units (OTUs – a nomenclature referred to in the present study of the possible new species delimited for the genetic analysis, a much higher number compared to the traditional alfa taxonomy that only recognizes S. guntheri across the isolated coastal rivers of Brazil. Furthermore, the PCA analysis suggests that S. guntheri is highly variable in aspects of external body proportions, including dorsal-fin spine length, pectoral-fin spine length, pelvic-fin spine length, lower caudal-fin spine length, caudal peduncle depth, anal width and mandibular ramus length. However, no exclusive character was found among the isolated populations that could be used to describe a new species of Schizolecis. Therefore, we can conclude, based on our results of PCA contrasting with the results of GMYC and ABGD, that S. guntheri represents a complex of species.

  3. Genetic analyses place most Spanish isolates of Beauveria bassiana in a molecular group with word-wide distribution

    Science.gov (United States)

    2011-01-01

    Background The entomopathogenic anamorphic fungus Beauveria bassiana is currently used as a biocontrol agent (BCA) of insects. Fifty-seven Beauveria bassiana isolates -53 from Spain- were characterized, integrating group I intron insertion patterns at the 3'-end of the nuclear large subunit ribosomal gene (LSU rDNA) and elongation factor 1-alpha (EF1-α) phylogenetic information, in order to assess the genetic structure and diversity of this Spanish collection of B. bassiana. Results Group I intron genotype analysis was based on the four highly conserved insertion sites of the LSU (Ec2653, Ec2449, Ec2066, Ec1921). Of the 16 possible combinations/genotypes, only four were detected, two of which were predominant, containing 44 and 9 members out of 57 isolates, respectively. Interestingly, the members of the latter two genotypes showed unique differences in their growth temperatures. In follow, EF1-α phylogeny served to classify most of the strains in the B. bassiana s.s. (sensu stricto) group and separate them into 5 molecular subgroups, all of which contained a group I intron belonging to the IC1 subtype at the Ec1921 position. A number of parameters such as thermal growth or origin (host, geographic location and climatic conditions) were also examined but in general no association could be found. Conclusion Most Spanish B. bassiana isolates (77.2%) are grouped into a major phylogenetic subgroup with word-wide distribution. However, high phylogenetic diversity was also detected among Spanish isolates from close geographic zones with low climatic variation. In general, no correlation was observed between the molecular distribution and geographic origin or climatic characteristics where the Spanish B. bassiana isolates were sampled. PMID:21521527

  4. Sex-biased natal dispersal and inbreeding avoidance in American black bears as revealed by spatial genetic analyses.

    Science.gov (United States)

    Costello, Cecily M; Creel, Scott R; Kalinowski, Steven T; Vu, Ninh V; Quigley, Howard B

    2008-11-01

    We tested the hypothesis that sex-biased natal dispersal reduces close inbreeding in American black bears, a solitary species that exhibits nearly complete male dispersal and female philopatry. Using microsatellite DNA and spatial data from reproductively mature bears (>or= 4 years old), we examined the spatial genetic structure of two distinct populations in New Mexico from 1993 to 2000. As predicted, relatedness (r) and the frequency of close relationships (parent-offspring or full siblings) decreased with distance among female dyads, but little change was observed among male or opposite-sex dyads. Neighbouring females were more closely related than neighbouring males. The potential for inbreeding was low. Most opposite-sex pairs that lived sufficiently close to facilitate mating were unrelated, and few were close relatives. We found no evidence that bears actively avoided inbreeding in their selection of mates from this nearby pool, as mean r and relationship frequencies did not differ between potential and actual mating pairs (determined by parentage analysis). These basic patterns were apparent in both study areas despite a nearly two-fold difference in density. However, the sex bias in dispersal was less pronounced in the lower-density area, based on proportions of bears with male and female relatives residing nearby. This result suggests that male bears may respond to reduced competition by decreasing their rate or distance of dispersal. Evidence supports the hypothesis that inbreeding avoidance is achieved by means of male-biased dispersal but also indicates that competition (for mates or resources) modifies dispersal patterns.

  5. ANALYSES OF GENETIC VARIABILITY IN LENTINULA EDODES THROUGH MYCELIA RESPONSES TO DIFFERENT ABIOTIC CONDITIONS AND RAPD MOLECULAR MARKERS

    Directory of Open Access Journals (Sweden)

    Maki Cristina Sayuri

    2001-01-01

    Full Text Available The growth of thirty-four Lentinula edodes strains submitted to different mycelial cultivation conditions (pH and temperature was evaluated and strain variability was assessed by RAPD molecular markers. The growth at three pH values (5, 6 and 7 and four different temperatures (16, 25, 28 and 37ºC was measured using the in vitro mycelial development rate and water retention as parameters. Mycelial cultivation was successful at all pH tested, while the ideal temperature for mycelial cultivation ranged between 25 and 28ºC. The water content was lower in strains grown at 37ºC. Among 20 OPA primers (Operon Technologies, Inc. used for the RAPD analyses, seventeen presented good polymorphism (OPA01 to OPA05, OPA07 to OPA14, OPA17 to OPA20. The clustering based on similarity coefficients allowed the separation of strain in two groups with different geographic origins.

  6. Genetic fuzzy system modeling and simulation of vascular behaviour

    DEFF Research Database (Denmark)

    Tang, Jiaowei; Boonen, Harrie C.M.

    Background: The purpose of our project is to identify the rule sets and their interaction within the framework of cardiovascular function. By an iterative process of computational simulation and experimental work, we strive to mimic the physiological basis for cardiovascular adaptive changes in c...... the pressure change of different blood vessels. Conclusion: Genetic fuzzy system is one of potential modeling methods in modeling and simulation of vascular behavior.......Background: The purpose of our project is to identify the rule sets and their interaction within the framework of cardiovascular function. By an iterative process of computational simulation and experimental work, we strive to mimic the physiological basis for cardiovascular adaptive changes...... in cardiovascular disease and ultimately improve pharmacotherapy. For this purpose, novel computational approaches incorporating adaptive properties, auto-regulatory control and rule sets will be assessed, properties that are commonly lacking in deterministic models based on differential equations. We hypothesize...

  7. Artificially Expanded Genetic Information Systems for New Aptamer Technologies

    Directory of Open Access Journals (Sweden)

    Elisa Biondi

    2018-05-01

    Full Text Available Directed evolution was first applied to diverse libraries of DNA and RNA molecules a quarter century ago in the hope of gaining technology that would allow the creation of receptors, ligands, and catalysts on demand. Despite isolated successes, the outputs of this technology have been somewhat disappointing, perhaps because the four building blocks of standard DNA and RNA have too little functionality to have versatile binding properties, and offer too little information density to fold unambiguously. This review covers the recent literature that seeks to create an improved platform to support laboratory Darwinism, one based on an artificially expanded genetic information system (AEGIS that adds independently replicating nucleotide “letters” to the evolving “alphabet”.

  8. Double-crystal analyser system for the PRISMA spectrometer: test of a prototype

    International Nuclear Information System (INIS)

    Petrillo, C.; Sacchetti, F.; Steigenberger, U.

    1993-11-01

    A prototype of a double-analyser system has been tested at the ISIS pulsed neutron source in order to determine the performance of such an analysing device in the low energy transfer region. The performance of such a system has been found satisfactory in terms of reflectivity and energy resolution as well as alignment procedures. Based on our test results we propose the construction of a second arm for the PRISMA (PRogetto deol'Istituto di Struttura della MAteria del Consiglio Nazionale delle Ricerche) spectrometer at ISIS. This new arm would enable us to perform measurements with much improved energy resolution and to extend the wavevector transfer range to much smaller values thus improving the instrument performance significantly for magnetic scattering experiments. The new, modular approach of the upgrade will also strengthen the flexibility of the instrument and open up the opportunity for further instrumental developments, for example the introduction of a polarization option. (Author)

  9. The simulation of man-machine interaction in NPPs: the system response analyser project

    International Nuclear Information System (INIS)

    Cacciabue, P.C.

    1990-01-01

    In this paper, the ongoing research at Joint Research Centre-Ispra on the simulation of man-machine interaction is reviewed with reference to the past experience of system modelling and to the advances of the technological world. These require the coalescence of mixed disciplines covering the fields of engineering, psychology and sociology. In particular, the complexity of man-machine systems with respect to safety analysis is depicted. The developments and issues in modelling humans and machines are discussed: the possibility of combining them through the System Response Analyser methodology is presented as a balanced to be applied when the objective is the study of safety of systems during abnormal sequences. The three analytical tools which constitute the body of system response analysis namely a quasi-classical simulation of the actual plant, a cognitive model of the operator activities and a driver model, are described. (author)

  10. Genetic analyses involving microsatellite ETH10 genotypes on bovine chromosome 5 and performance trait measures in Angus- and Brahman-influenced cattle.

    Science.gov (United States)

    DeAtley, K L; Rincon, G; Farber, C R; Medrano, J F; Luna-Nevarez, P; Enns, R M; VanLeeuwen, D M; Silver, G A; Thomas, M G

    2011-07-01

    ETH10 is a dinucleotide microsatellite within the promoter of signal transducer and activator of transcription 6 (STAT6) gene on bovine chromosome 5. ETH10 is included in the panel of genetic markers used in parentage testing procedures of cattle breed associations. Allelic sizes of ETH10 PCR amplicons range from 199 to 225 bp. Objectives of this study were to use microsatellite data from beef cattle breed associations to investigate genetic distance and population stratification among Angus- and Brahman-influenced cattle and to use ETH10 genotypes and growth and ultrasound carcass data to investigate their statistical relationships. Three series of genotype to phenotype association analyses were conducted with 1) Angus data (n=5,094), 2) Brangus data (3/8 Brahman × 5/8 Angus; n=2,296), and 3) multibreed data (n=4,426) of Angus and Brangus cattle. Thirteen alleles and 38 genotypes were observed, but frequencies varied among breed groups. Tests of genetic identity and distance among 6 breed composition groups increasing in Brahman influence from 0 to 75% revealed that as Brahman-influence increased to ≥50%, genetic distance from Angus ranged from 18.3 to 43.5%. This was accomplished with 10 microsatellite loci. A mixed effects model involving genotype as a fixed effect and sire as a random source of variation suggested that Angus cattle with the 217/219 genotype tended to have 2.1% heavier (P=0.07) 205-d BW than other genotypes. In Brangus cattle, allele combinations were classified as small (≤215 bp) or large (≥217 bp). Brangus cattle with the small/large genotype had 2.0% heavier (PAngus and Brangus cattle. Results from this study provide support for STAT6 as one of the candidate genes underlying cattle growth QTL on chromosome 5. © 2011 American Society of Animal Science. All rights reserved.

  11. A reliability model of the Angra 1 power system by the device of stages optimized by genetic algorithms

    International Nuclear Information System (INIS)

    Crossetti, Patricia Guimaraes

    2006-01-01

    This thesis proposes a probabilistic model to perform the reliability analysis of nuclear power plant systems under aging. This work analyses the Angra 1 power system. Systems subject to aging consist of components whose failure rates are not all constant, thus generating Non-Markovian models. Genetic algorithms were used for optimizing the application of the device of stages. Two approaches were used in the optimization, MCEF and MCEV. The results obtained for the Angra 1 power system show that the probability of a station blackout is negligible. (author)

  12. Designing System Reforms: Using a Systems Approach to Translate Incident Analyses into Prevention Strategies

    Science.gov (United States)

    Goode, Natassia; Read, Gemma J. M.; van Mulken, Michelle R. H.; Clacy, Amanda; Salmon, Paul M.

    2016-01-01

    Advocates of systems thinking approaches argue that accident prevention strategies should focus on reforming the system rather than on fixing the “broken components.” However, little guidance exists on how organizations can translate incident data into prevention strategies that address the systemic causes of accidents. This article describes and evaluates a series of systems thinking prevention strategies that were designed in response to the analysis of multiple incidents. The study was undertaken in the led outdoor activity (LOA) sector in Australia, which delivers supervised or instructed outdoor activities such as canyoning, sea kayaking, rock climbing and camping. The design process involved workshops with practitioners, and focussed on incident data analyzed using Rasmussen's AcciMap technique. A series of reflection points based on the systemic causes of accidents was used to guide the design process, and the AcciMap technique was used to represent the prevention strategies and the relationships between them, leading to the creation of PreventiMaps. An evaluation of the PreventiMaps revealed that all of them incorporated the core principles of the systems thinking approach and many proposed prevention strategies for improving vertical integration across the LOA system. However, the majority failed to address the migration of work practices and the erosion of risk controls. Overall, the findings suggest that the design process was partially successful in helping practitioners to translate incident data into prevention strategies that addressed the systemic causes of accidents; refinement of the design process is required to focus practitioners more on designing monitoring and feedback mechanisms to support decisions at the higher levels of the system. PMID:28066296

  13. Functional relevance for associations between genetic variants and systemic lupus erythematosus.

    Directory of Open Access Journals (Sweden)

    Fei-Yan Deng

    Full Text Available Systemic lupus erythematosus (SLE is a serious prototype autoimmune disease characterized by chronic inflammation, auto-antibody production and multi-organ damage. Recent association studies have identified a long list of loci that were associated with SLE with relatively high statistical power. However, most of them only established the statistical associations of genetic markers and SLE at the DNA level without supporting evidence of functional relevance. Here, using publically available datasets, we performed integrative analyses (gene relationship across implicated loci analysis, differential gene expression analysis and functional annotation clustering analysis and combined with expression quantitative trait loci (eQTLs results to dissect functional mechanisms underlying the associations for SLE. We found that 14 SNPs, which were significantly associated with SLE in previous studies, have cis-regulation effects on four eQTL genes (HLA-DQA1, HLA-DQB1, HLA-DQB2, and IRF5 that were also differentially expressed in SLE-related cell groups. The functional evidence, taken together, suggested the functional mechanisms underlying the associations of 14 SNPs and SLE. The study may serve as an example of mining publically available datasets and results in validation of significant disease-association results. Utilization of public data resources for integrative analyses may provide novel insights into the molecular genetic mechanisms underlying human diseases.

  14. A web-based endpoint adjudication system for interim analyses in clinical trials.

    Science.gov (United States)

    Nolen, Tracy L; Dimmick, Bill F; Ostrosky-Zeichner, Luis; Kendrick, Amy S; Sable, Carole; Ngai, Angela; Wallace, Dennis

    2009-02-01

    A data monitoring committee (DMC) is often employed to assess trial progress and review safety data and efficacy endpoints throughout a trail. Interim analyses performed for the DMC should use data that are as complete and verified as possible. Such analyses are complicated when data verification involves subjective study endpoints or requires clinical expertise to determine each subject's status with respect to the study endpoint. Therefore, procedures are needed to obtain adjudicated data for interim analyses in an efficient manner. In the past, methods for handling such data included using locally reported results as surrogate endpoints, adjusting analysis methods for unadjudicated data, or simply performing the adjudication as rapidly as possible. These methods all have inadequacies that make their sole usage suboptimal. For a study of prophylaxis for invasive candidiasis, adjudication of both study eligibility criteria and clinical endpoints prior to two interim analyses was required. Because the study was expected to enroll at a moderate rate and the sponsor required adjudicated endpoints to be used for interim analyses, an efficient process for adjudication was required. We created a web-based endpoint adjudication system (WebEAS) that allows for expedited review by the endpoint adjudication committee (EAC). This system automatically identifies when a subject's data are complete, creates a subject profile from the study data, and assigns EAC reviewers. The reviewers use the WebEAS to review the subject profile and submit their completed review form. The WebEAS then compares the reviews, assigns an additional review as a tiebreaker if needed, and stores the adjudicated data. The study for which this system was originally built was administratively closed after 10 months with only 38 subjects enrolled. The adjudication process was finalized and the WebEAS system activated prior to study closure. Some website accessibility issues presented initially. However

  15. Reliability and vulnerability analyses of critical infrastructures: Comparing two approaches in the context of power systems

    International Nuclear Information System (INIS)

    Johansson, Jonas; Hassel, Henrik; Zio, Enrico

    2013-01-01

    Society depends on services provided by critical infrastructures, and hence it is important that they are reliable and robust. Two main approaches for gaining knowledge required for designing and improving critical infrastructures are reliability analysis and vulnerability analysis. The former analyses the ability of the system to perform its intended function; the latter analyses its inability to withstand strains and the effects of the consequent failures. The two approaches have similarities but also some differences with respect to what type of information they generate about the system. In this view, the main purpose of this paper is to discuss and contrast these approaches. To strengthen the discussion and exemplify its findings, a Monte Carlo-based reliability analysis and a vulnerability analysis are considered in their application to a relatively simple, but representative, system the IEEE RTS96 electric power test system. The exemplification reveals that reliability analysis provides a good picture of the system likely behaviour, but fails to capture a large portion of the high consequence scenarios, which are instead captured in the vulnerability analysis. Although these scenarios might be estimated to have small probabilities of occurrence, they should be identified, considered and treated cautiously, as probabilistic analyses should not be the only input to decision-making for the design and protection of critical infrastructures. The general conclusion that can be drawn from the findings of the example is that vulnerability analysis should be used to complement reliability studies, as well as other forms of probabilistic risk analysis. Measures should be sought for reducing both the vulnerability, i.e. improving the system ability to withstand strains and stresses, and the reliability, i.e. improving the likely behaviour

  16. "Contrasting patterns of selection at Pinus pinaster Ait. Drought stress candidate genes as revealed by genetic differentiation analyses".

    Science.gov (United States)

    Eveno, Emmanuelle; Collada, Carmen; Guevara, M Angeles; Léger, Valérie; Soto, Alvaro; Díaz, Luis; Léger, Patrick; González-Martínez, Santiago C; Cervera, M Teresa; Plomion, Christophe; Garnier-Géré, Pauline H

    2008-02-01

    The importance of natural selection for shaping adaptive trait differentiation among natural populations of allogamous tree species has long been recognized. Determining the molecular basis of local adaptation remains largely unresolved, and the respective roles of selection and demography in shaping population structure are actively debated. Using a multilocus scan that aims to detect outliers from simulated neutral expectations, we analyzed patterns of nucleotide diversity and genetic differentiation at 11 polymorphic candidate genes for drought stress tolerance in phenotypically contrasted Pinus pinaster Ait. populations across its geographical range. We compared 3 coalescent-based methods: 2 frequentist-like, including 1 approach specifically developed for biallelic single nucleotide polymorphisms (SNPs) here and 1 Bayesian. Five genes showed outlier patterns that were robust across methods at the haplotype level for 2 of them. Two genes presented higher F(ST) values than expected (PR-AGP4 and erd3), suggesting that they could have been affected by the action of diversifying selection among populations. In contrast, 3 genes presented lower F(ST) values than expected (dhn-1, dhn2, and lp3-1), which could represent signatures of homogenizing selection among populations. A smaller proportion of outliers were detected at the SNP level suggesting the potential functional significance of particular combinations of sites in drought-response candidate genes. The Bayesian method appeared robust to low sample sizes, flexible to assumptions regarding migration rates, and powerful for detecting selection at the haplotype level, but the frequentist-like method adapted to SNPs was more efficient for the identification of outlier SNPs showing low differentiation. Population-specific effects estimated in the Bayesian method also revealed populations with lower immigration rates, which could have led to favorable situations for local adaptation. Outlier patterns are discussed

  17. Phenotype prediction using regularized regression on genetic data in the DREAM5 Systems Genetics B Challenge.

    Directory of Open Access Journals (Sweden)

    Po-Ru Loh

    Full Text Available A major goal of large-scale genomics projects is to enable the use of data from high-throughput experimental methods to predict complex phenotypes such as disease susceptibility. The DREAM5 Systems Genetics B Challenge solicited algorithms to predict soybean plant resistance to the pathogen Phytophthora sojae from training sets including phenotype, genotype, and gene expression data. The challenge test set was divided into three subcategories, one requiring prediction based on only genotype data, another on only gene expression data, and the third on both genotype and gene expression data. Here we present our approach, primarily using regularized regression, which received the best-performer award for subchallenge B2 (gene expression only. We found that despite the availability of 941 genotype markers and 28,395 gene expression features, optimal models determined by cross-validation experiments typically used fewer than ten predictors, underscoring the importance of strong regularization in noisy datasets with far more features than samples. We also present substantial analysis of the training and test setup of the challenge, identifying high variance in performance on the gold standard test sets.

  18. Results of neutron physics analyses of WWER-440 cores with modified reactor protection and control systems

    International Nuclear Information System (INIS)

    Lehmann, M.; Pecka, M.; Rocek, J.; Zalesky, K.

    1993-12-01

    Detailed results are given of neutron physics analyses performed to assess the efficiency and acceptability of modifications of the WWER-440 core protection and control system; the modifications have been proposed with a view to increasing the proportion of mechanical control in the compensation of reactivity effects during reactor unit operation in the variable load mode. The calculations were carried out using the modular MOBY-DICK macrocode system together with the SMV42G36 library of two-group parametrized diffusion constants, containing corrections which allow new-design WWER-440 fuel assemblies to be discriminated. (J.B). 37 tabs., 18 figs., 5 refs

  19. Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

    Science.gov (United States)

    He, Wei; Li, Xin; Chen, Jiajing; Xu, Ling; Zhang, Feng; Dai, Qiushi; Cui, Hao; Wang, Duen-Mei; Yu, Jun; Hu, Songnian; Lu, Shan

    2011-03-01

    The aim of the study was to characterize the underlying mutation in a large multiplex Chinese family with hereditary nuclear cataract. A 6-generation Chinese family having hereditary nuclear cataract was recruited and clinically verified. Blood DNA samples were obtained from 53 available family members. Linkage analyses were performed on the known candidate regions for hereditary cataract with 36 polymorphic microsatellite markers. To identify mutations related to cataract, a direct sequencing approach was applied to a candidate gene residing in our linkage locus. A linkage locus was identified with a maximum 2-point LOD score of 4.31 (recombination fraction = 0) at marker D1S498 and a maximum multipoint LOD score of 5.7 between markers D1S2344 and D1S498 on chromosome 1q21.1, where the candidate gene Cx50 is located. Direct sequencing of Cx50 showed a 139 G to A transition occurred in all affected family members. This transitional mutation resulted in a replacement of aspartic acid by asparagine at residue 47 (D47N) and led to a loss-of-function of the protein. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.

  20. SCALE: A modular code system for performing standardized computer analyses for licensing evaluation

    International Nuclear Information System (INIS)

    1997-03-01

    This Manual represents Revision 5 of the user documentation for the modular code system referred to as SCALE. The history of the SCALE code system dates back to 1969 when the current Computational Physics and Engineering Division at Oak Ridge National Laboratory (ORNL) began providing the transportation package certification staff at the U.S. Atomic Energy Commission with computational support in the use of the new KENO code for performing criticality safety assessments with the statistical Monte Carlo method. From 1969 to 1976 the certification staff relied on the ORNL staff to assist them in the correct use of codes and data for criticality, shielding, and heat transfer analyses of transportation packages. However, the certification staff learned that, with only occasional use of the codes, it was difficult to become proficient in performing the calculations often needed for an independent safety review. Thus, shortly after the move of the certification staff to the U.S. Nuclear Regulatory Commission (NRC), the NRC staff proposed the development of an easy-to-use analysis system that provided the technical capabilities of the individual modules with which they were familiar. With this proposal, the concept of the Standardized Computer Analyses for Licensing Evaluation (SCALE) code system was born. This manual covers an array of modules written for the SCALE package, consisting of drivers, system libraries, cross section and materials properties libraries, input/output routines, storage modules, and help files

  1. SCALE: A modular code system for performing standardized computer analyses for licensing evaluation

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1997-03-01

    This Manual represents Revision 5 of the user documentation for the modular code system referred to as SCALE. The history of the SCALE code system dates back to 1969 when the current Computational Physics and Engineering Division at Oak Ridge National Laboratory (ORNL) began providing the transportation package certification staff at the U.S. Atomic Energy Commission with computational support in the use of the new KENO code for performing criticality safety assessments with the statistical Monte Carlo method. From 1969 to 1976 the certification staff relied on the ORNL staff to assist them in the correct use of codes and data for criticality, shielding, and heat transfer analyses of transportation packages. However, the certification staff learned that, with only occasional use of the codes, it was difficult to become proficient in performing the calculations often needed for an independent safety review. Thus, shortly after the move of the certification staff to the U.S. Nuclear Regulatory Commission (NRC), the NRC staff proposed the development of an easy-to-use analysis system that provided the technical capabilities of the individual modules with which they were familiar. With this proposal, the concept of the Standardized Computer Analyses for Licensing Evaluation (SCALE) code system was born. This manual covers an array of modules written for the SCALE package, consisting of drivers, system libraries, cross section and materials properties libraries, input/output routines, storage modules, and help files.

  2. An evaluation system for electronic retrospective analyses in radiation oncology: implemented exemplarily for pancreatic cancer

    Science.gov (United States)

    Kessel, Kerstin A.; Jäger, Andreas; Bohn, Christian; Habermehl, Daniel; Zhang, Lanlan; Engelmann, Uwe; Bougatf, Nina; Bendl, Rolf; Debus, Jürgen; Combs, Stephanie E.

    2013-03-01

    To date, conducting retrospective clinical analyses is rather difficult and time consuming. Especially in radiation oncology, handling voluminous datasets from various information systems and different documentation styles efficiently is crucial for patient care and research. With the example of patients with pancreatic cancer treated with radio-chemotherapy, we performed a therapy evaluation by using analysis tools connected with a documentation system. A total number of 783 patients have been documented into a professional, web-based documentation system. Information about radiation therapy, diagnostic images and dose distributions have been imported. For patients with disease progression after neoadjuvant chemoradiation, we designed and established an analysis workflow. After automatic registration of the radiation plans with the follow-up images, the recurrence volumes are segmented manually. Based on these volumes the DVH (dose-volume histogram) statistic is calculated, followed by the determination of the dose applied to the region of recurrence. All results are stored in the database and included in statistical calculations. The main goal of using an automatic evaluation system is to reduce time and effort conducting clinical analyses, especially with large patient groups. We showed a first approach and use of some existing tools, however manual interaction is still necessary. Further steps need to be taken to enhance automation. Already, it has become apparent that the benefits of digital data management and analysis lie in the central storage of data and reusability of the results. Therefore, we intend to adapt the evaluation system to other types of tumors in radiation oncology.

  3. Disturbance rejection performance analyses of closed loop control systems by reference to disturbance ratio.

    Science.gov (United States)

    Alagoz, Baris Baykant; Deniz, Furkan Nur; Keles, Cemal; Tan, Nusret

    2015-03-01

    This study investigates disturbance rejection capacity of closed loop control systems by means of reference to disturbance ratio (RDR). The RDR analysis calculates the ratio of reference signal energy to disturbance signal energy at the system output and provides a quantitative evaluation of disturbance rejection performance of control systems on the bases of communication channel limitations. Essentially, RDR provides a straightforward analytical method for the comparison and improvement of implicit disturbance rejection capacity of closed loop control systems. Theoretical analyses demonstrate us that RDR of the negative feedback closed loop control systems are determined by energy spectral density of controller transfer function. In this manner, authors derived design criteria for specifications of disturbance rejection performances of PID and fractional order PID (FOPID) controller structures. RDR spectra are calculated for investigation of frequency dependence of disturbance rejection capacity and spectral RDR analyses are carried out for PID and FOPID controllers. For the validation of theoretical results, simulation examples are presented. Copyright © 2014 ISA. Published by Elsevier Ltd. All rights reserved.

  4. Energy and exergy analyses of an ice-on-coil thermal energy storage system

    International Nuclear Information System (INIS)

    Ezan, Mehmet Akif; Erek, Aytunç; Dincer, Ibrahim

    2011-01-01

    In this study, energy and exergy analyses are carried out for the charging period of an ice-on-coil thermal energy storage system. The present model is developed using a thermal resistance network technique. First, the time-dependent variations of the predicted total stored energy, mass of ice, and outlet temperature of the heat transfer fluid from a storage tank are compared with the experimental data. Afterward, performance of an ice-on-coil type latent heat thermal energy storage system is investigated for several working and design parameters. The results of a comparative study are presented in terms of the variations of the heat transfer rate, total stored energy, dimensionless energetic/exergetic effectiveness and energy/exergy efficiency. The results indicate that working and design parameters of the ice-on-coil thermal storage tank should be determined by considering both energetic and exergetic behavior of the system. For the current parameters, storage capacity and energy efficiency of the system increases with decreasing the inlet temperature of the heat transfer fluid and increasing the length of the tube. Besides, the exergy efficiency increases with increasing the inlet temperature of the heat transfer fluid and increasing the length of the tube. -- Highlights: ► A comprehensive study on energy and exergy analyses of an ice-on-coil TES system. ► Determination of irreversibilities and their potential sources. ► Evaluation of both energy and exergy efficiencies and their comparisons.

  5. Genetic Diversity and Spatial Genetic Structure of the Grassland Perennial Saxifraga granulata along Two River Systems.

    Directory of Open Access Journals (Sweden)

    Sascha van der Meer

    Full Text Available Due to changes in land use, the natural habitats of an increasing number of plant species have become more and more fragmented. In landscapes that consist of patches of suitable habitat, the frequency and extent of long-distance seed dispersal can be expected to be an important factor determining local genetic diversity and regional population structure of the remaining populations. In plant species that are restricted to riparian habitats, rivers can be expected to have a strong impact on the dynamics and spatial genetic structure of populations as they may enable long-distance seed dispersal and thus maintain gene flow between fragmented populations. In this study, we used polymorphic microsatellite markers to investigate the genetic diversity and the spatial genetic structure of 28 populations of Saxifraga granulata along two rivers in central Belgium. We hypothesized that rivers might be essential for gene flow among increasingly isolated populations of this species. Genetic diversity was high (HS = 0.68, which to a certain extent can be explained by the octoploid nature of S. granulata in the study area. Populations along the Dijle and Demer rivers were also highly differentiated (G"ST = 0.269 and 0.164 and DEST = 0.190 and 0.124, respectively and showed significant isolation-by-distance, indicating moderate levels of gene flow primarily between populations that are geographically close to each other. Along the river Demer population genetic diversity was higher upstream than downstream, suggesting that seed dispersal via the water was not the primary mode of dispersal. Overall, these results indicate that despite increasing fragmentation populations along both rivers were highly genetically diverse. The high ploidy level and longevity of S. granulata have most likely buffered negative effects of fragmentation on genetic diversity and the spatial genetic structure of populations in riparian grasslands.

  6. Energy system analyses of the marginal energy technology in life cycle assessments

    DEFF Research Database (Denmark)

    Mathiesen, B.V.; Münster, Marie; Fruergaard, Thilde

    2007-01-01

    in historical and potential future energy systems. Subsequently, key LCA studies of products and different waste flows are analysed in relation to the recom- mendations in consequential LCA. Finally, a case of increased waste used for incineration is examined using an energy system analysis model......In life cycle assessments consequential LCA is used as the “state-of-the-art” methodology, which focuses on the consequences of decisions made in terms of system boundaries, allocation and selection of data, simple and dynamic marginal technology, etc.(Ekvall & Weidema 2004). In many LCA studies...... marginal technology? How is the marginal technology identified and used today? What is the consequence of not using energy system analy- sis for identifying the marginal energy technologies? The use of the methodology is examined from three angles. First, the marginal electricity technology is identified...

  7. SURE: a system of computer codes for performing sensitivity/uncertainty analyses with the RELAP code

    International Nuclear Information System (INIS)

    Bjerke, M.A.

    1983-02-01

    A package of computer codes has been developed to perform a nonlinear uncertainty analysis on transient thermal-hydraulic systems which are modeled with the RELAP computer code. Using an uncertainty around the analyses of experiments in the PWR-BDHT Separate Effects Program at Oak Ridge National Laboratory. The use of FORTRAN programs running interactively on the PDP-10 computer has made the system very easy to use and provided great flexibility in the choice of processing paths. Several experiments simulating a loss-of-coolant accident in a nuclear reactor have been successfully analyzed. It has been shown that the system can be automated easily to further simplify its use and that the conversion of the entire system to a base code other than RELAP is possible

  8. Real-Time Soils Characterization and Analyses Systems Used at Ohio Closure Sites

    International Nuclear Information System (INIS)

    Roybal, Lyle Gene; Carpenter, Michael Vance; Giles, John Robert; Hartwell, John Kelvin; Danahy, R.

    2003-01-01

    The Idaho National Engineering and Environmental Laboratory (INEEL) and the Fernald Environmental Management Project (FEMP) have jointly developed a field-deployed analytical system to rapidly scan, characterize, and analyze surface soil contamination. The basic system consists of a sodium iodide (NaI) spectrometer and global positioning system (GPS) hardware. This hardware can be deployed from any of four different platforms depending on the scope of the survey at hand. These platforms range from a large tractor-based unit (the RTRAK) used to survey large, relatively flat areas to a hand-pushed unit where maneuverability is important, to an excavator mounted system used to scan pits and trenches. The mobile sodium iodide concept was initially developed by the FEMP to provide pre-screening analyses for soils contaminated with uranium, thorium, and radium. The initial study is documented in the RTRAK Applicability Study and provides analyses supporting the field usage of the concept. The RTRAK system produced data that required several days of post-processing and analyses to generate an estimation of field coverage and activity levels. The INEEL has provided integrated engineering, computer hardware and software support to greatly streamline the data acquisition and analysis process to the point where real-time activity and coverage maps are available to the field technicians. On-line analyses have been added to automatically convert GPS data to Ohio State-Plane coordinates, examine and correct collected spectra for energy calibration drifts common to NaI spectrometers, and strip spectra in regions of interest to provide moisture corrected activity levels for total uranium, thorium-232, and radium-226. Additionally, the software provides a number of checks and alarms to alert operators that a hand-examination of spectral data in a particular area may be required. The FEMP has estimated that this technology has produced projected site savings in excess of $34M

  9. The influence of health care policies and health care system distrust on willingness to undergo genetic testing.

    Science.gov (United States)

    Armstrong, Katrina; Putt, Mary; Halbert, Chanita Hughes; Grande, David; Schwartz, Jerome Sanford; Liao, Kaijun; Marcus, Noora; Demeter, Mirar Bristol; Shea, Judy

    2012-05-01

    As the potential role of genetic testing in disease prevention and management grows, so does concern about differences in uptake of genetic testing across social and racial groups. Characteristics of how genetic tests are delivered may influence willingness to undergo testing and, if they affect population subgroups differently, alter disparities in testing. Conjoint analysis study of the effect of 3 characteristics of genetic test delivery (ie, attributes) on willingness to undergo genetic testing for cancer risk. Data were collected using a random digit dialing survey of 128 African American and 209 white individuals living in the United States. Measures included conjoint scenarios, the Revised Health Care System Distrust Scale (including the values and competence subscales), health insurance coverage, and sociodemographic characteristics. The 3 attributes studied were disclosure of test results to the health insurer, provision of the test by a specialist or primary care doctor, and race-specific or race-neutral marketing. In adjusted analyses, disclosure of test results to insurers, having to get the test from a specialist, and race-specific marketing were all inversely associated with willingness to undergo the genetic test, with the greatest effect for the disclosure attribute. Racial differences in willingness to undergo testing were not statistically significant (P=0.07) and the effect of the attributes on willingness to undergo testing did not vary by patient race. However, the decrease in willingness to undergo testing with insurance disclosure was greater among individuals with high values distrust (P=0.03), and the decrease in willingness to undergo testing from specialist access was smaller among individuals with high competence distrust (P=0.03). Several potentially modifiable characteristics of how genetic tests are delivered are associated with willingness to undergo testing. The effect of 2 of these characteristics vary according to the level of

  10. Comprehensive review of genetic association studies and meta-analyses on miRNA polymorphisms and cancer risk.

    Directory of Open Access Journals (Sweden)

    Kshitij Srivastava

    Full Text Available MicroRNAs (miRNAs are small RNA molecules that regulate the expression of corresponding messenger RNAs (mRNAs. Variations in the level of expression of distinct miRNAs have been observed in the genesis, progression and prognosis of multiple human malignancies. The present study was aimed to investigate the association between four highly studied miRNA polymorphisms (mir-146a rs2910164, mir-196a2 rs11614913, mir-149 rs2292832 and mir-499 rs3746444 and cancer risk by using a two-sided meta-analytic approach.An updated meta-analysis based on 53 independent case-control studies consisting of 27573 cancer cases and 34791 controls was performed. Odds ratio (OR and 95% confidence interval (95% CI were used to investigate the strength of the association.Overall, the pooled analysis showed that mir-196a2 rs11614913 was associated with a decreased cancer risk (OR = 0.846, P = 0.004, TT vs. CC while other miRNA SNPs showed no association with overall cancer risk. Subgroup analyses based on type of cancer and ethnicity were also performed, and results indicated that there was a strong association between miR-146a rs2910164 and overall cancer risk in Caucasian population under recessive model (OR = 1.274, 95%CI = 1.096-1.481, P = 0.002. Stratified analysis by cancer type also associated mir-196a2 rs11614913 with lung and colorectal cancer at allelic and genotypic level.The present meta-analysis suggests an important role of mir-196a2 rs11614913 polymorphism with overall cancer risk especially in Asian population. Further studies with large sample size are needed to evaluate and confirm this association.

  11. Safety and sensitivity analyses of a generic geologic disposal system for high-level radioactive waste

    International Nuclear Information System (INIS)

    Kimura, Hideo; Takahashi, Tomoyuki; Shima, Shigeki; Matsuzuru, Hideo

    1994-11-01

    This report describes safety and sensitivity analyses of a generic geologic disposal system for HLW, using a GSRW code and an automated sensitivity analysis methodology based on the Differential Algebra. An exposure scenario considered here is based on a normal evolution scenario which excludes events attributable to probabilistic alterations in the environment. The results of sensitivity analyses indicate that parameters related to a homogeneous rock surrounding a disposal facility have higher sensitivities to the output analyzed here than those of a fractured zone and engineered barriers. The sensitivity analysis methodology provides technical information which might be bases for the optimization of design of the disposal facility. Safety analyses were performed on the reference disposal system which involve HLW in amounts corresponding to 16,000 MTU of spent fuels. The individual dose equivalent due to the exposure pathway ingesting drinking water was calculated using both the conservative and realistic values of geochemical parameters. In both cases, the committed dose equivalent evaluated here is the order of 10 -7 Sv, and thus geologic disposal of HLW may be feasible if the disposal conditions assumed here remain unchanged throughout the periods assessed here. (author)

  12. Insight on trace element detoxification in the Black-tailed Godwit (Limosa limosa) through genetic, enzymatic and metallothionein analyses

    International Nuclear Information System (INIS)

    Lucia, Magali; Bocher, Pierrick; Cosson, Richard P.; Churlaud, Carine; Robin, Frédéric; Bustamante, Paco

    2012-01-01

    Trace element concentrations (Ag, As, Cd, Co, Cr, Cu, Fe, Hg, Mn, Ni, Pb, Se, Zn) were investigated in the liver, kidneys, muscle and feathers of 31 black-tailed godwits (Limosa limosa) accidentally killed during catches by mist net in the Pertuis Charentais, Atlantic coast of France. Analyses of carbon and nitrogen stable isotope ratios were carried out in liver, muscle and feathers in order to elucidate dietary patterns and to determine whether differences in diet explained the variation in elemental uptake. This study also aimed to have a preliminary assessment of sub-lethal effects triggered by trace elements through the investigation of gene expressions by quantitative real-time PCR, antioxidant enzyme activities (catalase, superoxide dismutase, glutathione peroxidase), and metallothionein (MT) levels. The results showed that Cr and Ni concentrations in tissues of adults were lower than in juveniles in part because adults may have eliminated these trace elements through moulting. Except for Cd and Ni, trace element concentrations were negatively correlated to the body mass of godwits. Ag, As, Hg and Se concentrations were positively linked with the trophic position of birds. The diet could be considered as a fundamental route of exposure for these elements demonstrating therefore the qualitative linkage between dietary habits of godwits and their contaminant concentrations. Our results strongly suggest that even though trace element concentrations were mostly below toxicity threshold level, the elevated concentrations of As, Ag, Cd, Cu, Fe and Se may however trigger sub-lethal effects. Trace elements appear to enhance expression of genes involved in oxidative stress defence, which indicates the production of reactive oxygen species. Moreover, birds with the highest concentrations appeared to have an increased mitochondrial metabolism suggesting that the fight against trace element toxicity requires additional energetic needs notably to produce detoxification

  13. Insight on trace element detoxification in the Black-tailed Godwit (Limosa limosa) through genetic, enzymatic and metallothionein analyses

    Energy Technology Data Exchange (ETDEWEB)

    Lucia, Magali, E-mail: m.lucia33@laposte.net [Littoral, Environnement et Societes (LIENSs), UMR 7266 CNRS-Universite de La Rochelle, 2 rue Olympe de Gouges, 17000 La Rochelle (France); Bocher, Pierrick [Littoral, Environnement et Societes (LIENSs), UMR 7266 CNRS-Universite de La Rochelle, 2 rue Olympe de Gouges, 17000 La Rochelle (France); Cosson, Richard P. [Mer Molecules Sante (MMS), Universite de Nantes, EA 2663, 2 rue de la Houssiniere, BP 92208, 44322 Nantes Cedex 3 (France); Churlaud, Carine; Robin, Frederic; Bustamante, Paco [Littoral, Environnement et Societes (LIENSs), UMR 7266 CNRS-Universite de La Rochelle, 2 rue Olympe de Gouges, 17000 La Rochelle (France)

    2012-04-15

    Trace element concentrations (Ag, As, Cd, Co, Cr, Cu, Fe, Hg, Mn, Ni, Pb, Se, Zn) were investigated in the liver, kidneys, muscle and feathers of 31 black-tailed godwits (Limosa limosa) accidentally killed during catches by mist net in the Pertuis Charentais, Atlantic coast of France. Analyses of carbon and nitrogen stable isotope ratios were carried out in liver, muscle and feathers in order to elucidate dietary patterns and to determine whether differences in diet explained the variation in elemental uptake. This study also aimed to have a preliminary assessment of sub-lethal effects triggered by trace elements through the investigation of gene expressions by quantitative real-time PCR, antioxidant enzyme activities (catalase, superoxide dismutase, glutathione peroxidase), and metallothionein (MT) levels. The results showed that Cr and Ni concentrations in tissues of adults were lower than in juveniles in part because adults may have eliminated these trace elements through moulting. Except for Cd and Ni, trace element concentrations were negatively correlated to the body mass of godwits. Ag, As, Hg and Se concentrations were positively linked with the trophic position of birds. The diet could be considered as a fundamental route of exposure for these elements demonstrating therefore the qualitative linkage between dietary habits of godwits and their contaminant concentrations. Our results strongly suggest that even though trace element concentrations were mostly below toxicity threshold level, the elevated concentrations of As, Ag, Cd, Cu, Fe and Se may however trigger sub-lethal effects. Trace elements appear to enhance expression of genes involved in oxidative stress defence, which indicates the production of reactive oxygen species. Moreover, birds with the highest concentrations appeared to have an increased mitochondrial metabolism suggesting that the fight against trace element toxicity requires additional energetic needs notably to produce detoxification

  14. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.

    Directory of Open Access Journals (Sweden)

    Yan Guo

    2016-08-01

    Full Text Available Observational epidemiological studies have shown that high body mass index (BMI is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors.We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia. We created a weighted BMI genetic score comprising 84 BMI-associated genetic variants to predicted BMI. We evaluated genetically predicted BMI in association with breast cancer risk using individual-level data from the Breast Cancer Association Consortium (BCAC (cases  =  46,325, controls  =  42,482. We further evaluated the association between genetically predicted BMI and breast cancer risk using summary statistics from 16,003 cases and 41,335 controls from the Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE Project. Because most studies measured BMI after cancer diagnosis, we could not conduct a parallel analysis to adequately evaluate the association of measured BMI with breast cancer risk prospectively.In the BCAC data, genetically predicted BMI was found to be inversely associated with breast cancer risk (odds ratio [OR]  =  0.65 per 5 kg/m2 increase, 95% confidence interval [CI]: 0.56-0.75, p = 3.32 × 10-10. The associations were similar for both premenopausal (OR   =   0.44, 95% CI:0.31-0.62, p  =  9.91 × 10-8 and postmenopausal breast cancer (OR  =  0.57, 95% CI: 0.46-0.71, p  =  1.88 × 10-8. This association was replicated in the data from the DRIVE consortium (OR  =  0.72, 95% CI: 0.60-0.84, p   =   1.64 × 10-7. Single marker analyses identified 17 of the 84 BMI-associated single nucleotide polymorphisms (SNPs in association with breast cancer risk at p < 0.05; for 16 of them, the

  15. HIFSA: Heavy-Ion Fusion Systems Assessment Project: Volume 2, Technical analyses

    International Nuclear Information System (INIS)

    Dudziak, D.J.

    1987-12-01

    A two-year project was undertaken to assess the commercial potential of heavy-ion fusion (HIF) as an economical electric power production technology. Because the US HIF development program is oriented toward the use of multiple-beam induction linacs, the study was confined to this particular driver technology. The HIF systems assessment (HIFSA) study involved several subsystem design, performance, and cost studies (e.g., the induction linac, final beam transport, beam transport in reactor cavity environments, cavity clearing, target manufacturing, and reactor plant). In addition, overall power plant systems integration, parametric analyses, and tradeoff studies were performed using a systems code developed specifically for the HIFSA project. Systems analysis results show values for cost of electricity (COE) comparable to those from other inertial- and magnetic-confinement fusion plant studies; viz., 50 to 60 mills/kWh (1985 dollars) for 1-GWe plant sizes. Also, significant COE insensitivity to major accelerator, target, and reactor parameters near the minima was demonstrated. Conclusions from the HIFSA study have already led to substantial modifications of the US HIF research and development program. Separate abstracts were prepared for 17 papers in these analyses

  16. HTR core physics and transient analyses by the Panthermix code system

    Energy Technology Data Exchange (ETDEWEB)

    Haas, J.B.M. de; Kuijper, J.C.; Oppe, J. [NRG - Fuels, Actinides and Isotopes group, Petten (Netherlands)

    2005-07-01

    At NRG Petten, core physics analyses on High Temperature gas-cooled Reactors (HTRs) are mainly performed by means of the PANTHERMIX code system. Since some years NRG is developing the HTR reactor physics code system WIMS/PANTHERMIX, based on the lattice code WIMS (Serco Assurance, UK), the 3-dimensional steady-state and transient core physics code PANTHER (British Energy, UK) and the 2-dimensional R-Z HTR thermal hydraulics code THERMIX-DIREKT (Research Centre FZJ Juelich, Germany). By means of the WIMS code nuclear data are being generated to suit the PANTHER code's neutronics. At NRG the PANTHER code has been interfaced with THERMIX-DIREKT to form PANTHERMIX, to enable core-follow/fuel management and transient analyses in a consistent manner on pebble bed type HTR systems. Also provisions have been made to simulate the flow of pebbles through the core of a pebble bed HTR, according to a given (R-Z) flow pattern. As examples of the versatility of the PANTHERMIX code system, calculations are presented on the PBMR, the South African pebble bed reactor design, to show the transient capabilities, and on a plutonium burning MEDUL-reactor, to demonstrate the core-follow/fuel management capabilities. For the investigated cases a good agreement is observed with the results of other HTR core physics codes.

  17. HTR core physics and transient analyses by the Panthermix code system

    International Nuclear Information System (INIS)

    Haas, J.B.M. de; Kuijper, J.C.; Oppe, J.

    2005-01-01

    At NRG Petten, core physics analyses on High Temperature gas-cooled Reactors (HTRs) are mainly performed by means of the PANTHERMIX code system. Since some years NRG is developing the HTR reactor physics code system WIMS/PANTHERMIX, based on the lattice code WIMS (Serco Assurance, UK), the 3-dimensional steady-state and transient core physics code PANTHER (British Energy, UK) and the 2-dimensional R-Z HTR thermal hydraulics code THERMIX-DIREKT (Research Centre FZJ Juelich, Germany). By means of the WIMS code nuclear data are being generated to suit the PANTHER code's neutronics. At NRG the PANTHER code has been interfaced with THERMIX-DIREKT to form PANTHERMIX, to enable core-follow/fuel management and transient analyses in a consistent manner on pebble bed type HTR systems. Also provisions have been made to simulate the flow of pebbles through the core of a pebble bed HTR, according to a given (R-Z) flow pattern. As examples of the versatility of the PANTHERMIX code system, calculations are presented on the PBMR, the South African pebble bed reactor design, to show the transient capabilities, and on a plutonium burning MEDUL-reactor, to demonstrate the core-follow/fuel management capabilities. For the investigated cases a good agreement is observed with the results of other HTR core physics codes

  18. Analysing the Influence of the Spontaneous Aneuploidy Frequency on the Cell Population System Cultivation

    Directory of Open Access Journals (Sweden)

    G. A. Nefedov

    2015-01-01

    Full Text Available The paper provides a qualitative analysis of M.S. Vinogradova's nonlinear model for dynamics of the cell population system. This system describes the stem cells cultivation in vitro under resource constraints. The system consists of two populations, namely: population of normal cells and population of abnormal cells. Resource constraints are considered as linear dependences of mitosis parameters on the normalized densities of each population.One of the key parameters that effects on the realization of the system evolution scenarios is a parameter that determines a share of the normal cells, which pass, when dividing, into population of the abnormal cells. The paper analyses both the existence conditions of the rest points and the changes of the evolution scenarios of population system with changing abovementioned parameter and other system parameters held fixed. It is shown that there is a saddle-node bifurcation in the system; the bifurcation value of the parameter is found. The paper shows the interval of parameter values in which the favorable scenarios of population system evolution are implemented. It also presents results of mathematical modeling.

  19. Recent advances in genetic modification systems for Actinobacteria.

    Science.gov (United States)

    Deng, Yu; Zhang, Xi; Zhang, Xiaojuan

    2017-03-01

    Actinobacteria are extremely important to human health, agriculture, and forests. Because of the vast differences of the characteristics of Actinobacteria, a lot of genetic tools have been developed for efficiently manipulating the genetics. Although there are a lot of successful examples of engineering Actinobacteria, they are still more difficult to be genetically manipulated than other model microorganisms such as Saccharomyces cerevisiae, Escherichia coli, and Bacillus subtilis etc. due to the diverse genomics and biochemical machinery. Here, we review the methods to introduce heterologous DNA into Actinobacteria and the available genetic modification tools. The trends and problems existing in engineering Actinobacteria are also covered.

  20. Structure analyses of swollen rubber-carbon black systems by contrast variation SANS

    International Nuclear Information System (INIS)

    Takenaka, Mikihito; Nishitsuji, Shotaro; Fujii, Sumiaki; Amino, Naoya; Ishikawa, Yasuhiro; Yamaguchi, Daisuke; Koizumi, Satoshi

    2010-01-01

    The polymer layers adsorbed on carbon black (CB) aggregates in rubber/CB systems have been investigated with contrast variation small-angle neutron scattering (SANS) method. Specimens were swollen by toluene/deuterated toluene solvents having various scattering length densities and their scattering intensities were measured with SANS. The contrast variation SANS for the specimens yielded partial scattering functions: the scattering function for polymer-polymer correlation S pp (q), the scattering function for CB- CB correlation S cc (q), and the scattering function for polymer- CB correlation S pc (q). The analyses of the partial scattering functions explored the existence of dense polymer layers around CB aggregates. Several characteristic parameters are estimated from the analyses, such as the size of aggregates, the thickness of layers, and the volume fractions of polymer of layers and matrix. (author)

  1. Manned systems utilization analysis (study 2.1). Volume 3: LOVES computer simulations, results, and analyses

    Science.gov (United States)

    Stricker, L. T.

    1975-01-01

    The LOVES computer program was employed to analyze the geosynchronous portion of the NASA's 1973 automated satellite mission model from 1980 to 1990. The objectives of the analyses were: (1) to demonstrate the capability of the LOVES code to provide the depth and accuracy of data required to support the analyses; and (2) to tradeoff the concept of space servicing automated satellites composed of replaceable modules against the concept of replacing expendable satellites upon failure. The computer code proved to be an invaluable tool in analyzing the logistic requirements of the various test cases required in the tradeoff. It is indicated that the concept of space servicing offers the potential for substantial savings in the cost of operating automated satellite systems.

  2. Optimization of fog inlet air cooling system for combined cycle power plants using genetic algorithm

    International Nuclear Information System (INIS)

    Ehyaei, Mehdi A.; Tahani, Mojtaba; Ahmadi, Pouria; Esfandiari, Mohammad

    2015-01-01

    In this research paper, a comprehensive thermodynamic modeling of a combined cycle power plant is first conducted and the effects of gas turbine inlet fogging system on the first and second law efficiencies and net power outputs of combined cycle power plants are investigated. The combined cycle power plant (CCPP) considered for this study consist of a double pressure heat recovery steam generator (HRSG) to utilize the energy of exhaust leaving the gas turbine and produce superheated steam to generate electricity in the Rankine cycle. In order to enhance understanding of this research and come up with optimum performance assessment of the plant, a complete optimization is using a genetic algorithm conducted. In order to achieve this goal, a new objective function is defined for the system optimization including social cost of air pollution for the power generation systems. The objective function is based on the first law efficiency, energy cost and the external social cost of air pollution for an operational system. It is concluded that using inlet air cooling system for the CCPP system and its optimization results in an increase in the average output power, first and second law efficiencies by 17.24%, 3.6% and 3.5%, respectively, for three warm months of year. - Highlights: • To model the combined cycle power plant equipped with fog inlet air cooling method. • To conduct both exergy and economic analyses for better understanding. • To conduct a complete optimization using a genetic algorithm to determine the optimal design parameters of the system

  3. Using probability modelling and genetic parentage assignment to test the role of local mate availability in mating system variation.

    Science.gov (United States)

    Blyton, Michaela D J; Banks, Sam C; Peakall, Rod; Lindenmayer, David B

    2012-02-01

    The formal testing of mating system theories with empirical data is important for evaluating the relative importance of different processes in shaping mating systems in wild populations. Here, we present a generally applicable probability modelling framework to test the role of local mate availability in determining a population's level of genetic monogamy. We provide a significance test for detecting departures in observed mating patterns from model expectations based on mate availability alone, allowing the presence and direction of behavioural effects to be inferred. The assessment of mate availability can be flexible and in this study it was based on population density, sex ratio and spatial arrangement. This approach provides a useful tool for (1) isolating the effect of mate availability in variable mating systems and (2) in combination with genetic parentage analyses, gaining insights into the nature of mating behaviours in elusive species. To illustrate this modelling approach, we have applied it to investigate the variable mating system of the mountain brushtail possum (Trichosurus cunninghami) and compared the model expectations with the outcomes of genetic parentage analysis over an 18-year study. The observed level of monogamy was higher than predicted under the model. Thus, behavioural traits, such as mate guarding or selective mate choice, may increase the population level of monogamy. We show that combining genetic parentage data with probability modelling can facilitate an improved understanding of the complex interactions between behavioural adaptations and demographic dynamics in driving mating system variation. © 2011 Blackwell Publishing Ltd.

  4. Hybrid Genetic Algorithm Optimization for Case Based Reasoning Systems

    International Nuclear Information System (INIS)

    Mohamed, A.H.

    2008-01-01

    The success of a CBR system largely depen ds on an effective retrieval of useful prior case for the problem. Nearest neighbor and induction are the main CBR retrieval algorithms. Each of them can be more suitable in different situations. Integrated the two retrieval algorithms can catch the advantages of both of them. But, they still have some limitations facing the induction retrieval algorithm when dealing with a noisy data, a large number of irrelevant features, and different types of data. This research utilizes a hybrid approach using genetic algorithms (GAs) to case-based induction retrieval of the integrated nearest neighbor - induction algorithm in an attempt to overcome these limitations and increase the overall classification accuracy. GAs can be used to optimize the search space of all the possible subsets of the features set. It can deal with the irrelevant and noisy features while still achieving a significant improvement of the retrieval accuracy. Therefore, the proposed CBR-GA introduces an effective general purpose retrieval algorithm that can improve the performance of CBR systems. It can be applied in many application areas. CBR-GA has proven its success when applied for different problems in real-life

  5. Developing a system dynamics model to analyse environmental problem in construction site

    Science.gov (United States)

    Haron, Fatin Fasehah; Hawari, Nurul Nazihah

    2017-11-01

    This study aims to develop a system dynamics model at a construction site to analyse the impact of environmental problem. Construction sites may cause damages to the environment, and interference in the daily lives of residents. A proper environmental management system must be used to reduce pollution, enhance bio-diversity, conserve water, respect people and their local environment, measure performance and set targets for the environment and sustainability. This study investigates the damaging impact normally occur during the construction stage. Environmental problem will cause costly mistake in project implementation, either because of the environmental damages that are likely to arise during project implementation, or because of modification that may be required subsequently in order to make the action environmentally acceptable. Thus, findings from this study has helped in significantly reducing the damaging impact towards environment, and improve the environmental management system performance at construction site.

  6. Comparative analyses of amplicon migration behavior in differing denaturing gradient gel electrophoresis (DGGE) systems

    Science.gov (United States)

    Thornhill, D. J.; Kemp, D. W.; Sampayo, E. M.; Schmidt, G. W.

    2010-03-01

    Denaturing gradient gel electrophoresis (DGGE) is commonly utilized to identify and quantify microbial diversity, but the conditions required for different electrophoretic systems to yield equivalent results and optimal resolution have not been assessed. Herein, the influence of different DGGE system configuration parameters on microbial diversity estimates was tested using Symbiodinium, a group of marine eukaryotic microbes that are important constituents of coral reef ecosystems. To accomplish this, bacterial clone libraries were constructed and sequenced from cultured isolates of Symbiodinium for the ribosomal DNA internal transcribed spacer 2 (ITS2) region. From these, 15 clones were subjected to PCR with a GC clamped primer set for DGGE analyses. Migration behaviors of the resulting amplicons were analyzed using a range of conditions, including variation in the composition of the denaturing gradient, electrophoresis time, and applied voltage. All tests were conducted in parallel on two commercial DGGE systems, a C.B.S. Scientific DGGE-2001, and the Bio-Rad DCode system. In this context, identical nucleotide fragments exhibited differing migration behaviors depending on the model of apparatus utilized, with fragments denaturing at a lower gradient concentration and applied voltage on the Bio-Rad DCode system than on the C.B.S. Scientific DGGE-2001 system. Although equivalent PCR-DGGE profiles could be achieved with both brands of DGGE system, the composition of the denaturing gradient and application of electrophoresis time × voltage must be appropriately optimized to achieve congruent results across platforms.

  7. Advanced exergy analyses of an ejector expansion transcritical CO_2 refrigeration system

    International Nuclear Information System (INIS)

    Bai, Tao; Yu, Jianlin; Yan, Gang

    2016-01-01

    Highlights: • Advanced exergy analyses are performed on CO_2 EERC cycle. • Compressor should be improved first, followed by ejector, evaporator and gas cooler. • Interactions among the system components are assessed with advanced exergy analysis. • Real potential for exergy destruction reduction of the system is 43.44%. - Abstract: This paper presents a thermodynamic investigation on an ejector expansion transcritical CO_2 refrigeration system with advanced exergy analysis. By splitting the exergy destruction into endogenous/exogenous and unavoidable/avoidable parts, more valuable information of the interactions among the system components and the components improvement potential is provided. The results indicate that the compressor with largest avoidable endogenous exergy destruction possesses the highest priority of improvement, followed by the ejector, evaporator and gas cooler. The system exergy destruction is dominantly endogenous, and 43.44% of the total exergy destruction can be avoided by improving the system components. The evaporator has a serious impact on the exogenous exergy destruction within the compressor and ejector, and its own exergy destruction is entirely belongs to endogenous part. The effects of the discharge pressure, compressor efficiency and ejector efficiency on the system exergetic performance are discussed. There is an optimal discharge pressure with respect to the minimum endogenous exergy destruction in the compressor. Avoidable endogenous exergy destruction rates of the compressor and ejector are respectively reduced by 93.6% and 81.7% when the corresponding component efficiency varies from 0.5 to 0.9.

  8. Performance Analyses of Renewable and Fuel Power Supply Systems for Different Base Station Sites

    Directory of Open Access Journals (Sweden)

    Josip Lorincz

    2014-11-01

    Full Text Available Base station sites (BSSs powered with renewable energy sources have gained the attention of cellular operators during the last few years. This is because such “green” BSSs impose significant reductions in the operational expenditures (OPEX of telecom operators due to the possibility of on-site renewable energy harvesting. In this paper, the green BSSs power supply system parameters detected through remote and centralized real time sensing are presented. An implemented sensing system based on a wireless sensor network enables reliable collection and post-processing analyses of many parameters, such as: total charging/discharging current of power supply system, battery voltage and temperature, wind speed, etc. As an example, yearly sensing results for three different BSS configurations powered by solar and/or wind energy are discussed in terms of renewable energy supply (RES system performance. In the case of powering those BSS with standalone systems based on a fuel generator, the fuel consumption models expressing interdependence among the generator load and fuel consumption are proposed. This has allowed energy-efficiency comparison of the fuel powered and RES systems, which is presented in terms of the OPEX and carbon dioxide (CO2 reductions. Additionally, approaches based on different BSS air-conditioning systems and the on/off regulation of a daily fuel generator activity are proposed and validated in terms of energy and capital expenditure (CAPEX savings.

  9. Optimization of cascade hydropower system operation by genetic algorithm to maximize clean energy output

    Directory of Open Access Journals (Sweden)

    Aida Tayebiyan

    2016-06-01

    Full Text Available Background: Several reservoir systems have been constructed for hydropower generation around the world. Hydropower offers an economical source of electricity with reduce carbon emissions. Therefore, it is such a clean and renewable source of energy. Reservoirs that generate hydropower are typically operated with the goal of maximizing energy revenue. Yet, reservoir systems are inefficiently operated and manage according to policies determined at the construction time. It is worth noting that with little enhancement in operation of reservoir system, there could be an increase in efficiency of the scheme for many consumers. Methods: This research develops simulation-optimization models that reflect discrete hedging policy (DHP to manage and operate hydropower reservoir system and analyse it in both single and multireservoir system. Accordingly, three operational models (2 single reservoir systems and 1 multi-reservoir system were constructed and optimized by genetic algorithm (GA. Maximizing the total power generation in horizontal time is chosen as an objective function in order to improve the functional efficiency in hydropower production with consideration to operational and physical limitations. The constructed models, which is a cascade hydropower reservoirs system have been tested and evaluated in the Cameron Highland and Batang Padang in Malaysia. Results: According to the given results, usage of DHP for hydropower reservoir system operation could increase the power generation output to nearly 13% in the studied reservoir system compared to present operating policy (TNB operation. This substantial increase in power production will enhance economic development. Moreover, the given results of single and multi-reservoir systems affirmed that hedging policy could manage the single system much better than operation of the multi-reservoir system. Conclusion: It can be summarized that DHP is an efficient and feasible policy, which could be used

  10. A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis.

    Directory of Open Access Journals (Sweden)

    Hirofumi Nakaoka

    Full Text Available Genome-wide association studies (GWAS have yielded novel genetic loci underlying common diseases. We propose a systems genetics approach to utilize these discoveries for better understanding of the genetic architecture of rheumatoid arthritis (RA. Current evidence of genetic associations with RA was sought through PubMed and the NHGRI GWAS catalog. The associations of 15 single nucleotide polymorphisms and HLA-DRB1 alleles were confirmed in 1,287 cases and 1,500 controls of Japanese subjects. Among these, HLA-DRB1 alleles and eight SNPs showed significant associations and all but one of the variants had the same direction of effect as identified in the previous studies, indicating that the genetic risk factors underlying RA are shared across populations. By receiver operating characteristic curve analysis, the area under the curve (AUC for the genetic risk score based on the selected variants was 68.4%. For seropositive RA patients only, the AUC improved to 70.9%, indicating good but suboptimal predictive ability. A simulation study shows that more than 200 additional loci with similar effect size as recent GWAS findings or 20 rare variants with intermediate effects are needed to achieve AUC = 80.0%. We performed the random walk with restart (RWR algorithm to prioritize genes for future mapping studies. The performance of the algorithm was confirmed by leave-one-out cross-validation. The RWR algorithm pointed to ZAP70 in the first rank, in which mutation causes RA-like autoimmune arthritis in mice. By applying the hierarchical clustering method to a subnetwork comprising RA-associated genes and top-ranked genes by the RWR, we found three functional modules relevant to RA etiology: "leukocyte activation and differentiation", "pattern-recognition receptor signaling pathway", and "chemokines and their receptors".These results suggest that the systems genetics approach is useful to find directions of future mapping strategies to illuminate

  11. Genetic basis for spontaneous hybrid genome doubling during allopolyploid speciation of common wheat shown by natural variation analyses of the paternal species.

    Directory of Open Access Journals (Sweden)

    Yoshihiro Matsuoka

    Full Text Available The complex process of allopolyploid speciation includes various mechanisms ranging from species crosses and hybrid genome doubling to genome alterations and the establishment of new allopolyploids as persisting natural entities. Currently, little is known about the genetic mechanisms that underlie hybrid genome doubling, despite the fact that natural allopolyploid formation is highly dependent on this phenomenon. We examined the genetic basis for the spontaneous genome doubling of triploid F1 hybrids between the direct ancestors of allohexaploid common wheat (Triticum aestivum L., AABBDD genome, namely Triticumturgidum L. (AABB genome and Aegilopstauschii Coss. (DD genome. An Ae. tauschii intraspecific lineage that is closely related to the D genome of common wheat was identified by population-based analysis. Two representative accessions, one that produces a high-genome-doubling-frequency hybrid when crossed with a T. turgidum cultivar and the other that produces a low-genome-doubling-frequency hybrid with the same cultivar, were chosen from that lineage for further analyses. A series of investigations including fertility analysis, immunostaining, and quantitative trait locus (QTL analysis showed that (1 production of functional unreduced gametes through nonreductional meiosis is an early step key to successful hybrid genome doubling, (2 first division restitution is one of the cytological mechanisms that cause meiotic nonreduction during the production of functional male unreduced gametes, and (3 six QTLs in the Ae. tauschii genome, most of which likely regulate nonreductional meiosis and its subsequent gamete production processes, are involved in hybrid genome doubling. Interlineage comparisons of Ae. tauschii's ability to cause hybrid genome doubling suggested an evolutionary model for the natural variation pattern of the trait in which non-deleterious mutations in six QTLs may have important roles. The findings of this study demonstrated

  12. Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.

    Science.gov (United States)

    Johnson, Michael R; Shkura, Kirill; Langley, Sarah R; Delahaye-Duriez, Andree; Srivastava, Prashant; Hill, W David; Rackham, Owen J L; Davies, Gail; Harris, Sarah E; Moreno-Moral, Aida; Rotival, Maxime; Speed, Doug; Petrovski, Slavé; Katz, Anaïs; Hayward, Caroline; Porteous, David J; Smith, Blair H; Padmanabhan, Sandosh; Hocking, Lynne J; Starr, John M; Liewald, David C; Visconti, Alessia; Falchi, Mario; Bottolo, Leonardo; Rossetti, Tiziana; Danis, Bénédicte; Mazzuferi, Manuela; Foerch, Patrik; Grote, Alexander; Helmstaedter, Christoph; Becker, Albert J; Kaminski, Rafal M; Deary, Ian J; Petretto, Enrico

    2016-02-01

    Genetic determinants of cognition are poorly characterized, and their relationship to genes that confer risk for neurodevelopmental disease is unclear. Here we performed a systems-level analysis of genome-wide gene expression data to infer gene-regulatory networks conserved across species and brain regions. Two of these networks, M1 and M3, showed replicable enrichment for common genetic variants underlying healthy human cognitive abilities, including memory. Using exome sequence data from 6,871 trios, we found that M3 genes were also enriched for mutations ascertained from patients with neurodevelopmental disease generally, and intellectual disability and epileptic encephalopathy in particular. M3 consists of 150 genes whose expression is tightly developmentally regulated, but which are collectively poorly annotated for known functional pathways. These results illustrate how systems-level analyses can reveal previously unappreciated relationships between neurodevelopmental disease-associated genes in the developed human brain, and provide empirical support for a convergent gene-regulatory network influencing cognition and neurodevelopmental disease.

  13. Range extension for the common dolphin (Delphinus sp. to the Colombian Caribbean, with taxonomic implications from genetic barcoding and phylogenetic analyses.

    Directory of Open Access Journals (Sweden)

    Nohelia Farías-Curtidor

    Full Text Available The nearest known population of common dolphins (Delphinus sp. to the Colombian Caribbean occurs in a fairly restricted range in eastern Venezuela. These dolphins have not been previously reported in the Colombian Caribbean, likely because of a lack of study of the local cetacean fauna. We collected cetacean observations in waters of the Guajira Department, northern Colombia (~11°N, 73°W during two separate efforts: (a a seismic vessel survey (December 2009-March 2010, and (b three coastal surveys from small boats (May-July 2012, May 2013, and May 2014. Here we document ten sightings of common dolphins collected during these surveys, which extend the known range of the species by ~1000 km into the southwestern Caribbean. We also collected nine skin biopsies in 2013 and 2014. In order to determine the taxonomic identity of the specimens, we conducted genetic barcoding and phylogenetic analyses using two mitochondrial markers, the Control Region (mtDNA and Cytochrome b (Cytb. Results indicate that these specimens are genetically closer to the short-beaked common dolphin (Delphinus delphis even though morphologically they resemble a long-beaked form (Delphinus sp.. However, the specific taxonomic status of common dolphins in the Caribbean and in the Western Atlantic remains unresolved. It is also unclear whether the distribution of the species between northern Colombia and eastern Venezuela is continuous or disjoined, or whether they can be considered part of the same stock.

  14. Comprehensive genetic analyses reveal evolutionary distinction of a mouse (Zapus hudsonius preblei) proposed for delisting from the US Endangered Species Act.

    Science.gov (United States)

    King, Tim L; Switzer, John F; Morrison, Cheryl L; Eackles, Michael S; Young, Colleen C; Lubinski, Barbara A; Cryan, Paul

    2006-12-01

    Zapus hudsonius preblei, listed as threatened under the US Endangered Species Act (ESA), is one of 12 recognized subspecies of meadow jumping mice found in North America. Recent morphometric and phylogenetic comparisons among Z. h. preblei and neighbouring conspecifics questioned the taxonomic status of selected subspecies, resulting in a proposal to delist the Z. h. preblei from the ESA. We present additional analyses of the phylogeographic structure within Z. hudsonius that calls into question previously published data (and conclusions) and confirms the original taxonomic designations. A survey of 21 microsatellite DNA loci and 1380 base pairs from two mitochondrial DNA (mtDNA) regions (control region and cytochrome b) revealed that each Z. hudsonius subspecies is genetically distinct. These data do not support the null hypothesis of a homogeneous gene pool among the five subspecies found within the southwestern portion of the species' range. The magnitude of the observed differentiation was considerable and supported by significant findings for nearly every statistical comparison made, regardless of the genome or the taxa under consideration. Structuring of nuclear multilocus genotypes and subspecies-specific mtDNA haplotypes corresponded directly with the disjunct distributions of the subspecies investigated. Given the level of correspondence between the observed genetic population structure and previously proposed taxonomic classification of subspecies (based on the geographic separation and surveys of morphological variation), we conclude that the nominal subspecies surveyed in this study do not warrant synonymy, as has been proposed for Z. h. preblei, Z. h. campestris, and Z. h. intermedius.

  15. Transient analyses for lead–bismuth cooled accelerator-driven system

    International Nuclear Information System (INIS)

    Sugawara, Takanori; Nishihara, Kenji; Tsujimoto, Kazufumi

    2013-01-01

    Highlights: ► The transient analyses for the LBE cooled accelerator-driven system were performed. ► The purpose was to investigate the possibility of the core damage. ► All results except the protected loss of heat sink satisfied the no-damage criteria. - Abstract: The transient analyses for the lead–bismuth cooled Accelerator-Driven System (ADS) were performed with the use of the SIMMER-III and RELAP5/mod3.2 codes to investigate the possibility of the core damage. Five accidents; the beam window breakage, the protected loss of heat sink, the beam overpower, the unprotected loss of flow and the unprotected blockage accident were analyzed as the typical accidents in the ADS. Through these calculations, it was confirmed that all calculation results except the protected loss of heat sink satisfied the no-damage criteria. In the protected loss of heat sink, the cladding tube temperature reached at the melting temperature after 20 h although the calculation condition was very conservative. It is required to design a safety system of the ADS to decrease the frequencies of the accidents and to ease the accidents

  16. Computational methods, tools and data for nuclear analyses of fusion technology systems

    International Nuclear Information System (INIS)

    Fischer, U.

    2006-01-01

    An overview is presented of the Research and Development work conducted at Forschungszentrum Karlsruhe in co-operation with other associations in the framework of the European Fusion Technology Programme on the development and qualification of computational tools and data for nuclear analyses of Fusion Technology systems. The focus is on the development of advanced methods and tools based on the Monte Carlo technique for particle transport simulations, and the evaluation and qualification of dedicated nuclear data to satisfy the needs of the ITER and the IFMIF projects. (author)

  17. Analysing patient queue system in an imaging department: a step toward total quality management

    International Nuclear Information System (INIS)

    Kumar, Pratik; Pandey, A.K.

    2008-01-01

    Medical imaging has become an inevitable part of any diagnosis and/or management of the disease. This has put tremendous work-load on the medical imaging machines. The crowd of waiting patients at any busy imaging centre or rooms has become a common scene. This is especially true for any Government hospital or medical college in India since they cater to bulk of patients. As a part of total quality management we attempted to record, investigate, analyse and suggest on the state of patients' queue system at radiological imaging rooms

  18. A digital squarer system for positive mass identification on the ARL ion microprobe mass analyser

    International Nuclear Information System (INIS)

    Woods, K.N.; Grant, L.D.V.; Rawsthorne, E.D.; Strydom, H.J.; Gries, W.H.

    1984-01-01

    The original analogue squarer for mass scale linearisation in the Ion Microprobe Mass Analyser (IMMA) has been replaced by a programmable digital squarer system which permits reliable mass number identification throughout the tested range 1 to 240. The digital squarer provides signals to both a digital direct reading mass number display and to an X-Y recorder where it provides a linear mass scale correct to within 0,3 mass units. An additional output to a computer can provide binary or BCD mass number data

  19. Advanced computational tools and methods for nuclear analyses of fusion technology systems

    International Nuclear Information System (INIS)

    Fischer, U.; Chen, Y.; Pereslavtsev, P.; Simakov, S.P.; Tsige-Tamirat, H.; Loughlin, M.; Perel, R.L.; Petrizzi, L.; Tautges, T.J.; Wilson, P.P.H.

    2005-01-01

    An overview is presented of advanced computational tools and methods developed recently for nuclear analyses of Fusion Technology systems such as the experimental device ITER ('International Thermonuclear Experimental Reactor') and the intense neutron source IFMIF ('International Fusion Material Irradiation Facility'). These include Monte Carlo based computational schemes for the calculation of three-dimensional shut-down dose rate distributions, methods, codes and interfaces for the use of CAD geometry models in Monte Carlo transport calculations, algorithms for Monte Carlo based sensitivity/uncertainty calculations, as well as computational techniques and data for IFMIF neutronics and activation calculations. (author)

  20. Chromosome-based genetic complementation system for Xylella fastidiosa.

    Science.gov (United States)

    Matsumoto, Ayumi; Young, Glenn M; Igo, Michele M

    2009-03-01

    Xylella fastidiosa is a xylem-limited, gram-negative bacterium that causes Pierce's disease of grapevine. Here, we describe the construction of four vectors that facilitate the insertion of genes into a neutral site (NS1) in the X. fastidiosa chromosome. These vectors carry a colE1-like (pMB1) replicon and DNA sequences from NS1 flanking a multiple-cloning site and a resistance marker for one of the following antibiotics: chloramphenicol, erythromycin, gentamicin, or kanamycin. In X. fastidiosa, vectors with colE1-like (pMB1) replicons have been found to result primarily in the recovery of double recombinants rather than single recombinants. Thus, the ease of obtaining double recombinants and the stability of the resulting insertions at NS1 in the absence of selective pressure are the major advantages of this system. Based on in vitro and in planta characterizations, strains carrying insertions within NS1 are indistinguishable from wild-type X. fastidiosa in terms of growth rate, biofilm formation, and pathogenicity. To illustrate the usefulness of this system for complementation analysis, we constructed a strain carrying a mutation in the X. fastidiosa cpeB gene, which is predicted to encode a catalase/peroxidase, and showed that the sensitivity of this mutant to hydrogen peroxide could be overcome by the introduction of a wild-type copy of cpeB at NS1. Thus, this chromosome-based complementation system provides a valuable genetic tool for investigating the role of specific genes in X. fastidiosa cell physiology and virulence.

  1. Analysing a Chinese Regional Integrated Healthcare Organisation Reform Failure using a Complex Adaptive System Approach

    Directory of Open Access Journals (Sweden)

    Wenxi Tang

    2017-06-01

    Full Text Available Introduction: China’s organised health system has remained outdated for decades. Current health systems in many less market-oriented countries still adhere to traditional administrative-based directives and linear planning. Furthermore, they neglect the responsiveness and feedback of institutions and professionals, which often results in reform failure in integrated care. Complex adaptive system theory (CAS provides a new perspective and methodology for analysing the health system and policy implementation.  Methods: We observed the typical case of Qianjiang’s Integrated Health Organization Reform (IHO for 2 years to analyse integrated care reforms using CAS theory. Via questionnaires and interviews, we observed 32 medical institutions and 344 professionals. We compared their cooperative behaviours from both organisational and inter-professional levels between 2013 and 2015, and further investigated potential reasons for why medical institutions and professionals did not form an effective IHO. We discovered how interested parties in the policy implementation process influenced reform outcome, and by theoretical induction, proposed a new semi-organised system and corresponding policy analysis flowchart that potentially suits the actual realisation of CAS.  Results: The reform did not achieve its desired effect. The Qianjiang IHO was loosely integrated rather than closely integrated, and the cooperation levels between organisations and professionals were low. This disappointing result was due to low mutual trust among IHO members, with the main contributing factors being insufficient financial incentives and the lack of a common vision.  Discussion and Conclusions: The traditional 'organised health system' is old-fashioned. Rather than being completely organised or adaptive, the health system is currently more similar to a s'emi-organised system'. Medical institutions and professionals operate in a middle ground between complete adherence

  2. GeVaDSs – decision support system for novel Genetic Vaccine development process

    Directory of Open Access Journals (Sweden)

    Blazewicz Jacek

    2012-05-01

    Full Text Available Abstract Background The lack of a uniform way for qualitative and quantitative evaluation of vaccine candidates under development led us to set up a standardized scheme for vaccine efficacy and safety evaluation. We developed and implemented molecular and immunology methods, and designed support tools for immunization data storage and analyses. Such collection can create a unique opportunity for immunologists to analyse data delivered from their laboratories. Results We designed and implemented GeVaDSs (Genetic Vaccine Decision Support system an interactive system for efficient storage, integration, retrieval and representation of data. Moreover, GeVaDSs allows for relevant association and interpretation of data, and thus for knowledge-based generation of testable hypotheses of vaccine responses. Conclusions GeVaDSs has been tested by several laboratories in Europe, and proved its usefulness in vaccine analysis. Case study of its application is presented in the additional files. The system is available at: http://gevads.cs.put.poznan.pl/preview/(login: viewer, password: password.

  3. National Genetic Evaluation (System of Hanwoo (Korean Native Cattle

    Directory of Open Access Journals (Sweden)

    B. Park

    2013-02-01

    practically contributed to the improvement in aspects of quality and quantity. In sum, the current selection system is good enough to accommodate circumstances where fewer sires are used on many more cows. Although progeny tests take longer and cost more, they seem to be appropriate under the circumstances of the domestic market with its higher requirement for better meat quality. Consequently, accumulative data collection, genetic evaluation model development, revision of selection indices, as well as cooperation among farms, associations, National Agricultural Cooperative Federation, universities, research institutes, and government agencies must be applied to the Hanwoo selection program. All these efforts will assist the domestic market to secure a competitive position against imported beef under Free Trade Agreement trade system and will provide farmers with higher profits as well as the public with a higher quality of beef.

  4. Can the reproductive system of a rare and narrowly endemic plant species explain its high genetic diversity?

    Directory of Open Access Journals (Sweden)

    Daniele M. Rodrigues

    2018-01-01

    Full Text Available ABSTRACT The reproductive system of flowering plants can be highly variable, affecting their biology, gene flow and genetic variability among populations. Petunia secreta is a rare annual endemic species of Pedra do Segredo, located in the municipality of Caçapava do Sul, state of Rio Grande do Sul, Brazil. Although rare, the species possesses a high level of genetic variability. We investigated the reproductive system of P. secreta, including fruit production and seed germinability, in order to determine if its reproductive system can explain its genetic diversity. We sampled five populations and conducted five greenhouse hand-pollination treatments: 1 autonomous apomixis; 2 self-pollination; 3 hand self-pollination; 4 geitonogamy; and 5 cross-pollination. We analysed a total of 40 plants, 468 flowers, and 6,500 seeds. Only autonomous apomixis and self-pollination did not produce fruit. No differences in fruit weight were observed among pollination treatments (P > 0.05. Seeds of two colours were produced, with no differences in germinability. Considering all plants, populations, and treatments, the average germinability was 73 % (range 9 % to 100 %. These results, along with other previous studies, indicate that the reproductive systems of P. secreta, and its large effective population size, can explain its high genetic diversity.

  5. Genetics of aggression.

    Science.gov (United States)

    Anholt, Robert R H; Mackay, Trudy F C

    2012-01-01

    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  6. Assessment of Tools and Data for System-Level Dynamic Analyses

    International Nuclear Information System (INIS)

    Piet, Steven J.; Soelberg, Nick R.

    2011-01-01

    The only fuel cycle for which dynamic analyses and assessments are not needed is the null fuel cycle - no nuclear power. For every other concept, dynamic analyses are needed and can influence relative desirability of options. Dynamic analyses show how a fuel cycle might work during transitions from today's partial fuel cycle to something more complete, impact of technology deployments, location of choke points, the key time lags, when benefits can manifest, and how well parts of fuel cycles work together. This report summarizes the readiness of existing Fuel Cycle Technology (FCT) tools and data for conducting dynamic analyses on the range of options. VISION is the primary dynamic analysis tool. Not only does it model mass flows, as do other dynamic system analysis models, but it allows users to explore various potential constraints. The only fuel cycle for which constraints are not important are those in concept advocates PowerPoint presentations; in contrast, comparative analyses of fuel cycles must address what constraints exist and how they could impact performance. The most immediate tool need is extending VISION to the thorium/U233 fuel cycle. Depending on further clarification of waste management strategies in general and for specific fuel cycle candidates, waste management sub-models in VISION may need enhancement, e.g., more on 'co-flows' of non-fuel materials, constraints in waste streams, or automatic classification of waste streams on the basis of user-specified rules. VISION originally had an economic sub-model. The economic calculations were deemed unnecessary in later versions so it was retired. Eventually, the program will need to restore and improve the economics sub-model of VISION to at least the cash flow stage and possibly to incorporating cost constraints and feedbacks. There are multiple sources of data that dynamic analyses can draw on. In this report, 'data' means experimental data, data from more detailed theoretical or empirical

  7. Assessment of Tools and Data for System-Level Dynamic Analyses

    Energy Technology Data Exchange (ETDEWEB)

    Steven J. Piet; Nick R. Soelberg

    2011-06-01

    The only fuel cycle for which dynamic analyses and assessments are not needed is the null fuel cycle - no nuclear power. For every other concept, dynamic analyses are needed and can influence relative desirability of options. Dynamic analyses show how a fuel cycle might work during transitions from today's partial fuel cycle to something more complete, impact of technology deployments, location of choke points, the key time lags, when benefits can manifest, and how well parts of fuel cycles work together. This report summarizes the readiness of existing Fuel Cycle Technology (FCT) tools and data for conducting dynamic analyses on the range of options. VISION is the primary dynamic analysis tool. Not only does it model mass flows, as do other dynamic system analysis models, but it allows users to explore various potential constraints. The only fuel cycle for which constraints are not important are those in concept advocates PowerPoint presentations; in contrast, comparative analyses of fuel cycles must address what constraints exist and how they could impact performance. The most immediate tool need is extending VISION to the thorium/U233 fuel cycle. Depending on further clarification of waste management strategies in general and for specific fuel cycle candidates, waste management sub-models in VISION may need enhancement, e.g., more on 'co-flows' of non-fuel materials, constraints in waste streams, or automatic classification of waste streams on the basis of user-specified rules. VISION originally had an economic sub-model. The economic calculations were deemed unnecessary in later versions so it was retired. Eventually, the program will need to restore and improve the economics sub-model of VISION to at least the cash flow stage and possibly to incorporating cost constraints and feedbacks. There are multiple sources of data that dynamic analyses can draw on. In this report, 'data' means experimental data, data from more detailed

  8. Understanding Genetic Breast Cancer Risk: Processing Loci of the BRCA Gist Intelligent Tutoring System.

    Science.gov (United States)

    Wolfe, Christopher R; Reyna, Valerie F; Widmer, Colin L; Cedillos-Whynott, Elizabeth M; Brust-Renck, Priscila G; Weil, Audrey M; Hu, Xiangen

    2016-07-01

    The BRCA Gist Intelligent Tutoring System helps women understand and make decisions about genetic testing for breast cancer risk. BRCA Gist is guided by Fuzzy-Trace Theory, (FTT) and built using AutoTutor Lite. It responds differently to participants depending on what they say. Seven tutorial dialogues requiring explanation and argumentation are guided by three FTT concepts: forming gist explanations in one's own words, emphasizing decision-relevant information, and deliberating the consequences of decision alternatives. Participants were randomly assigned to BRCA Gist , a control, or impoverished BRCA Gist conditions removing gist explanation dialogues, argumentation dialogues, or FTT images. All BRCA Gist conditions performed significantly better than controls on knowledge, comprehension, and risk assessment. Significant differences in knowledge, comprehension, and fine-grained dialogue analyses demonstrate the efficacy of gist explanation dialogues. FTT images significantly increased knowledge. Providing more elements in arguments against testing correlated with increased knowledge and comprehension.

  9. A novel genetic system for recombinant protein secretion in the Antarctic Pseudoalteromonas haloplanktis TAC125

    Directory of Open Access Journals (Sweden)

    Marino Gennaro

    2006-12-01

    Full Text Available Abstract Background The final aim of recombinant protein production is both to have a high specific production rate and a high product quality. It was already shown that using cold-adapted bacteria as host vectors, some "intractable" proteins can be efficiently produced at temperature as low as 4°C. Results A novel genetic system for the production and secretion of recombinant proteins in the Antarctic Gram-negative bacterium Pseudoalteromonas haloplanktis TAC125 was set up. This system aims at combining the low temperature recombinant product production with the advantages of extra-cellular protein targeting. The psychrophilic α-amylase from Pseudoalteromonas haloplanktis TAB23 was used as secretion carrier. Three chimerical proteins were produced by fusing intra-cellular proteins to C-terminus of the psychrophilic α-amylase and their secretion was analysed. Data reported in this paper demonstrate that all tested chimeras were translocated with a secretion yield always higher than 80%. Conclusion Data presented here demonstrate that the "cold" gene-expression system is efficient since the secretion yield of tested chimeras is always above 80%. These secretion performances place the α-amylase derived secretion system amongst the best heterologous secretion systems in Gram-negative bacteria reported so far. As for the quality of the secreted passenger proteins, data presented suggest that the system also allows the correct disulphide bond formation of chimera components, secreting a fully active passenger.

  10. Applications of Systems Genetics and Biology for Obesity Using Pig Models

    DEFF Research Database (Denmark)

    Kogelman, Lisette; Kadarmideen, Haja N.

    2016-01-01

    approach, a branch of systems biology. In this chapter, we will describe the state of the art of genetic studies on human obesity, using pig populations. We will describe the features of using the pig as a model for human obesity and briefly discuss the genetics of obesity, and we will focus on systems...

  11. Using the ICF in economic analyses of Assistive Technology systems: methodological implications of a user standpoint.

    Science.gov (United States)

    Schraner, Ingrid; De Jonge, Desleigh; Layton, Natasha; Bringolf, Jane; Molenda, Agata

    2008-01-01

    This paper identifies key methodological issues for economic analyses of costs and effectiveness of Assistive Technology (AT) systems based on the International Classification of Functioning, Disability and Health (ICF). Following the biopsychosocial model of the ICF, the paper explores the consequences for cost-effectiveness analyses of AT systems when a user centred approach is taken. In so doing, the paper questions the fiction of neutrality in economic analyses and discusses the distinction between weak and strong objectivity. Costs are measured as all resources used when providing a particular level of environmental facilitators and reducing environmental barriers for an AT user, while effectiveness is measured in terms of the resulting increase in activities and participation of the AT user. The ICF's fourth qualifier for activities and participation, which denotes performance without assistance is used to identify the additional performance achieved due to the particular environmental factors in the current situation (first qualifier). A fifth qualifier for activities and participation is introduced to denote performance with optimal assistance, and the fourth qualifier is then again used to identify the increase in activities and participation due to the environmental factors in the situation with optimal assistance. The effectiveness that an AT user achieves in his or her current situation can be compared with the effectiveness he or she could achieve when provided with what is considered an optimal AT system based on current technologies and user priorities. This comparison throws into sharp relief the role of AT systems as well as of universal design (UD) in reducing environmental barriers for AT users in a way that is cost-effective for society as a whole. Cost-effectiveness analysis based on the ICF can provide powerful economic evidence for how best to allocate existing funding for AT systems. We can identify three particular scenarios in which clear

  12. Atmospheric Mining in the Outer Solar System: Outer Planet Orbital Transfer and Lander Analyses

    Science.gov (United States)

    Palaszewski, Bryan

    2016-01-01

    Atmospheric mining in the outer solar system has been investigated as a means of fuel production for high energy propulsion and power. Fusion fuels such as Helium 3 (3He) and deuterium can be wrested from the atmospheres of Uranus and Neptune and either returned to Earth or used in-situ for energy production. Helium 3 and deuterium were the primary gases of interest with hydrogen being the primary propellant for nuclear thermal solid core and gas core rocket-based atmospheric flight. A series of analyses were undertaken to investigate resource capturing aspects of atmospheric mining in the outer solar system. This included the gas capturing rate, storage options, and different methods of direct use of the captured gases. While capturing 3He, large amounts of hydrogen and 4He are produced. Analyses of orbital transfer vehicles (OTVs), landers, and the issues with in-situ resource utilization (ISRU) mining factories are included. Preliminary observations are presented on near-optimal selections of moon base orbital locations, OTV power levels, and OTV and lander rendezvous points. For analyses of round trip OTV flights from Uranus to Miranda or Titania, a 10- Megawatt electric (MWe) OTV power level and a 200 metricton (MT) lander payload were selected based on a relative short OTV trip time and minimization of the number of lander flights. A similar optimum power level is suggested for OTVs flying from low orbit around Neptune to Thalassa or Triton. Several moon base sites at Uranus and Neptune and the OTV requirements to support them are also addressed.

  13. IAEA coordinated research project on 'analytical and experimental benchmark analyses of accelerator driven systems'

    International Nuclear Information System (INIS)

    Ait-Abderrahim, H.; Stanculescu, A.

    2006-01-01

    This paper provides the general background and the main specifications of the benchmark exercises performed within the framework of the IAEA Coordinated Research Project (CRP) on Analytical and Experimental Benchmark Analyses of Accelerator Driven Systems. The overall objective of the CRP, performed within the framework of the Technical Working Group on Fast Reactors (TWG-FR) of IAEA's Nuclear Energy Dept., is to contribute to the generic R and D efforts in various fields common to innovative fast neutron system development, i.e. heavy liquid metal thermal hydraulics, dedicated transmutation fuels and associated core designs, theoretical nuclear reaction models, measurement and evaluation of nuclear data for transmutation, and development and validation of calculational methods and codes. (authors)

  14. Use of the modal superposition technique for piping system blowdown analyses

    International Nuclear Information System (INIS)

    Ware, A.G.; Macek, R.W.

    1983-01-01

    A standard method of solving for the seismic response of piping systems is the modal superposition technique. Only a limited number of structural modes are considered (typically those up to 33 Hz in the U.S.), since the effect on the calculated response due to higher modes is generally small, and the method can result in considerable computer cost savings over the direct integration method. The modal superposition technique has also been applied to piping response problems in which the forcing functions are due to fluid excitation. Application of the technique to this case is somewhat more difficult, because a well defined cutoff frequency for determining structural modes to be included has not been established. This paper outlines a method for higher mode corrections, and suggests methods to determine suitable cutoff frequencies for piping system blowdown analyses. A numerical example illustrates how uncorrected modal superposition results can produce erroneous stress results

  15. Biosphere Modeling and Analyses in Support of Total System Performance Assessment

    International Nuclear Information System (INIS)

    Tappen, J. J.; Wasiolek, M. A.; Wu, D. W.; Schmitt, J. F.; Smith, A. J.

    2002-01-01

    The Nuclear Waste Policy Act of 1982 established the obligations of and the relationship between the U.S. Environmental Protection Agency (EPA), the U.S. Nuclear Regulatory Commission (NRC), and the U.S. Department of Energy (DOE) for the management and disposal of high-level radioactive wastes. In 1985, the EPA promulgated regulations that included a definition of performance assessment that did not consider potential dose to a member of the general public. This definition would influence the scope of activities conducted by DOE in support of the total system performance assessment program until 1995. The release of a National Academy of Sciences (NAS) report on the technical basis for a Yucca Mountain-specific standard provided the impetus for the DOE to initiate activities that would consider the attributes of the biosphere, i.e. that portion of the earth where living things, including man, exist and interact with the environment around them. The evolution of NRC and EPA Yucca Mountain-specific regulations, originally proposed in 1999, was critical to the development and integration of biosphere modeling and analyses into the total system performance assessment program. These proposed regulations initially differed in the conceptual representation of the receptor of interest to be considered in assessing performance. The publication in 2001 of final regulations in which the NRC adopted standard will permit the continued improvement and refinement of biosphere modeling and analyses activities in support of assessment activities

  16. SPES3 Facility RELAP5 Sensitivity Analyses on the Containment System for Design Review

    International Nuclear Information System (INIS)

    Achilli, A.; Congiu, C.; Ferri, R.; Bianchi, F.; Meloni, P.; Grgic, D.; Dzodzo, M.

    2012-01-01

    An Italian MSE R and D programme on Nuclear Fission is funding, through ENEA, the design and testing of SPES3 facility at SIET, for IRIS reactor simulation. IRIS is a modular, medium size, advanced, integral PWR, developed by an international consortium of utilities, industries, research centres and universities. SPES3 simulates the primary, secondary and containment systems of IRIS, with 1:100 volume scale, full elevation and prototypical thermal-hydraulic conditions. The RELAP5 code was extensively used in support to the design of the facility to identify criticalities and weak points in the reactor simulation. FER, at Zagreb University, performed the IRIS reactor analyses with the RELAP5 and GOTHIC coupled codes. The comparison between IRIS and SPES3 simulation results led to a simulation-design feedback process with step-by-step modifications of the facility design, up to the final configuration. For this, a series of sensitivity cases was run to investigate specific aspects affecting the trend of the main parameters of the plant, as the containment pressure and EHRS removed power, to limit fuel clad temperature excursions during accidental transients. This paper summarizes the sensitivity analyses on the containment system that allowed to review the SPES3 facility design and confirm its capability to appropriately simulate the IRIS plant.

  17. Improvement in the determination of elemental concentrations in PIXE analyses using artificial neural system

    International Nuclear Information System (INIS)

    Correa, R.; Dinator, M.I.; Morales, J.R.; Miranda, P.A.; Cancino, S.A.; Vila, I.; Requena, I.

    2008-01-01

    An Artificial Neural System, ANS, has been designed to operate in the analysis of spectra obtained from a PIXE (Proton Induced X-ray Emissions) application. The special designed ANS was used in the calculation of the concentrations of the major elements in the samples. Neural systems using several feed-forward ANN of similar topology working in parallel were trained with error back propagation algorithm using sets of spectra of known elemental concentrations. Following the training phase of the neural networks, other PIXE spectra were analyzed with this methodology providing unknown elemental concentrations. ANS results were compared with results obtained by traditional computer codes like AXIL and GUPIX, obtaining correlations factors close to one. The rather short time required to process each spectrum, of the order of microseconds, allows fast analysis of a large number of samples. Here we present applications of ANS in the PIXE analyses of samples of organic nature like liver, gills and muscle from fishes. ANS results were compared with elemental concentrations obtained in a previous application where a single ANN was used for each analyzed element. PIXE analyses were performed at the Nuclear Physics Laboratory of the University of Chile, using 2.2 MeV proton beams provided by a Van de Graaff accelerator. (author)

  18. SPES3 Facility RELAP5 Sensitivity Analyses on the Containment System for Design Review

    Directory of Open Access Journals (Sweden)

    Andrea Achilli

    2012-01-01

    Full Text Available An Italian MSE R&D programme on Nuclear Fission is funding, through ENEA, the design and testing of SPES3 facility at SIET, for IRIS reactor simulation. IRIS is a modular, medium size, advanced, integral PWR, developed by an international consortium of utilities, industries, research centres and universities. SPES3 simulates the primary, secondary and containment systems of IRIS, with 1:100 volume scale, full elevation and prototypical thermal-hydraulic conditions. The RELAP5 code was extensively used in support to the design of the facility to identify criticalities and weak points in the reactor simulation. FER, at Zagreb University, performed the IRIS reactor analyses with the RELAP5 and GOTHIC coupled codes. The comparison between IRIS and SPES3 simulation results led to a simulation-design feedback process with step-by-step modifications of the facility design, up to the final configuration. For this, a series of sensitivity cases was run to investigate specific aspects affecting the trend of the main parameters of the plant, as the containment pressure and EHRS removed power, to limit fuel clad temperature excursions during accidental transients. This paper summarizes the sensitivity analyses on the containment system that allowed to review the SPES3 facility design and confirm its capability to appropriately simulate the IRIS plant.

  19. Biosphere Modeling and Analyses in Support of Total System Performance Assessment

    International Nuclear Information System (INIS)

    Jeff Tappen; M.A. Wasiolek; D.W. Wu; J.F. Schmitt

    2001-01-01

    The Nuclear Waste Policy Act of 1982 established the obligations of and the relationship between the U.S. Environmental Protection Agency (EPA), the U.S. Nuclear Regulatory Commission (NRC), and the U.S. Department of Energy (DOE) for the management and disposal of high-level radioactive wastes. In 1985, the EPA promulgated regulations that included a definition of performance assessment that did not consider potential dose to a member of the general public. This definition would influence the scope of activities conducted by DOE in support of the total system performance assessment program until 1995. The release of a National Academy of Sciences (NAS) report on the technical basis for a Yucca Mountain-specific standard provided the impetus for the DOE to initiate activities that would consider the attributes of the biosphere, i.e. that portion of the earth where living things, including man, exist and interact with the environment around them. The evolution of NRC and EPA Yucca Mountain-specific regulations, originally proposed in 1999, was critical to the development and integration of biosphere modeling and analyses into the total system performance assessment program. These proposed regulations initially differed in the conceptual representation of the receptor of interest to be considered in assessing performance. The publication in 2001 of final regulations in which the NRC adopted standard will permit the continued improvement and refinement of biosphere modeling and analyses activities in support of assessment activities

  20. Performance Optimization of Unglazed Nanofluid Photovoltaic/Thermal System: Energy and Exergy Analyses

    Directory of Open Access Journals (Sweden)

    M. Imtiaz Hussain

    2018-01-01

    Full Text Available The focus of this paper is to predict the transient response of a nanoengineered photovoltaic thermal (PV/T system in view of energy and exergy analyses. Instead of a circular-shaped receiver, a trapezoidal-shaped receiver is employed to increase heat transfer surface area with photovoltaic (PV cells for improvement of heat extraction and thus achievement of a higher PV/T system efficiency. The dynamic mathematical model is developed using MATLAB® software by considering real-time heat transfer coefficients. The proposed model is validated with experimental data from a previous study. Negligible discrepancies were found between measured and predicted data. The validated model was further investigated in detail using different nanofluids by dispersing copper oxide (CuO and aluminum oxide (Al2O3 in pure water. The overall performance of the nanoengineered PV/T system was compared to that of a PV/T system using water only, and optimal operating conditions were determined for maximum useful energy and exergy rates. The results indicated that the CuO/water nanofluid has a notable impact on the energy and exergy efficiencies of the PV/T system compared to that of Al2O3/water nanofluid and water only cases.

  1. Time series analyses of breathing patterns of lung cancer patients using nonlinear dynamical system theory.

    Science.gov (United States)

    Tewatia, D K; Tolakanahalli, R P; Paliwal, B R; Tomé, W A

    2011-04-07

    The underlying requirements for successful implementation of any efficient tumour motion management strategy are regularity and reproducibility of a patient's breathing pattern. The physiological act of breathing is controlled by multiple nonlinear feedback and feed-forward couplings. It would therefore be appropriate to analyse the breathing pattern of lung cancer patients in the light of nonlinear dynamical system theory. The purpose of this paper is to analyse the one-dimensional respiratory time series of lung cancer patients based on nonlinear dynamics and delay coordinate state space embedding. It is very important to select a suitable pair of embedding dimension 'm' and time delay 'τ' when performing a state space reconstruction. Appropriate time delay and embedding dimension were obtained using well-established methods, namely mutual information and the false nearest neighbour method, respectively. Establishing stationarity and determinism in a given scalar time series is a prerequisite to demonstrating that the nonlinear dynamical system that gave rise to the scalar time series exhibits a sensitive dependence on initial conditions, i.e. is chaotic. Hence, once an appropriate state space embedding of the dynamical system has been reconstructed, we show that the time series of the nonlinear dynamical systems under study are both stationary and deterministic in nature. Once both criteria are established, we proceed to calculate the largest Lyapunov exponent (LLE), which is an invariant quantity under time delay embedding. The LLE for all 16 patients is positive, which along with stationarity and determinism establishes the fact that the time series of a lung cancer patient's breathing pattern is not random or irregular, but rather it is deterministic in nature albeit chaotic. These results indicate that chaotic characteristics exist in the respiratory waveform and techniques based on state space dynamics should be employed for tumour motion management.

  2. Time series analyses of breathing patterns of lung cancer patients using nonlinear dynamical system theory

    Energy Technology Data Exchange (ETDEWEB)

    Tewatia, D K; Tolakanahalli, R P; Paliwal, B R; Tome, W A, E-mail: tewatia@wisc.edu [Department of Human Oncology, University of Wisconsin, Madison, WI (United States)

    2011-04-07

    The underlying requirements for successful implementation of any efficient tumour motion management strategy are regularity and reproducibility of a patient's breathing pattern. The physiological act of breathing is controlled by multiple nonlinear feedback and feed-forward couplings. It would therefore be appropriate to analyse the breathing pattern of lung cancer patients in the light of nonlinear dynamical system theory. The purpose of this paper is to analyse the one-dimensional respiratory time series of lung cancer patients based on nonlinear dynamics and delay coordinate state space embedding. It is very important to select a suitable pair of embedding dimension 'm' and time delay '{tau}' when performing a state space reconstruction. Appropriate time delay and embedding dimension were obtained using well-established methods, namely mutual information and the false nearest neighbour method, respectively. Establishing stationarity and determinism in a given scalar time series is a prerequisite to demonstrating that the nonlinear dynamical system that gave rise to the scalar time series exhibits a sensitive dependence on initial conditions, i.e. is chaotic. Hence, once an appropriate state space embedding of the dynamical system has been reconstructed, we show that the time series of the nonlinear dynamical systems under study are both stationary and deterministic in nature. Once both criteria are established, we proceed to calculate the largest Lyapunov exponent (LLE), which is an invariant quantity under time delay embedding. The LLE for all 16 patients is positive, which along with stationarity and determinism establishes the fact that the time series of a lung cancer patient's breathing pattern is not random or irregular, but rather it is deterministic in nature albeit chaotic. These results indicate that chaotic characteristics exist in the respiratory waveform and techniques based on state space dynamics should be employed

  3. Time series analyses of breathing patterns of lung cancer patients using nonlinear dynamical system theory

    International Nuclear Information System (INIS)

    Tewatia, D K; Tolakanahalli, R P; Paliwal, B R; Tome, W A

    2011-01-01

    The underlying requirements for successful implementation of any efficient tumour motion management strategy are regularity and reproducibility of a patient's breathing pattern. The physiological act of breathing is controlled by multiple nonlinear feedback and feed-forward couplings. It would therefore be appropriate to analyse the breathing pattern of lung cancer patients in the light of nonlinear dynamical system theory. The purpose of this paper is to analyse the one-dimensional respiratory time series of lung cancer patients based on nonlinear dynamics and delay coordinate state space embedding. It is very important to select a suitable pair of embedding dimension 'm' and time delay 'τ' when performing a state space reconstruction. Appropriate time delay and embedding dimension were obtained using well-established methods, namely mutual information and the false nearest neighbour method, respectively. Establishing stationarity and determinism in a given scalar time series is a prerequisite to demonstrating that the nonlinear dynamical system that gave rise to the scalar time series exhibits a sensitive dependence on initial conditions, i.e. is chaotic. Hence, once an appropriate state space embedding of the dynamical system has been reconstructed, we show that the time series of the nonlinear dynamical systems under study are both stationary and deterministic in nature. Once both criteria are established, we proceed to calculate the largest Lyapunov exponent (LLE), which is an invariant quantity under time delay embedding. The LLE for all 16 patients is positive, which along with stationarity and determinism establishes the fact that the time series of a lung cancer patient's breathing pattern is not random or irregular, but rather it is deterministic in nature albeit chaotic. These results indicate that chaotic characteristics exist in the respiratory waveform and techniques based on state space dynamics should be employed for tumour motion management.

  4. Conventional and advanced exergoeconomic analyses applied to ethylene refrigeration system of an existing olefin plant

    International Nuclear Information System (INIS)

    Palizdar, A.; Sadrameli, S.M.

    2017-01-01

    Highlights: • Conventional and advanced exergoeconomic analyses were applied. • Investment cost for most of the components is larger than exergy destruction cost. • Most of exergy destruction and investment costs are avoidable and endogenous. • Distillation column and compressor have the highest priority to improve. - Abstract: Ethylene refrigeration system of a light olefins production plant was investigated using the conventional and advanced exergoeconomic analyses. In advanced analysis, investment and exergy destruction costs of system components are divided into endogenous/exogenous and avoidable/unavoidable parts to improve our knowledge about the refrigeration system. Results of the exergoeconomic analysis represent that the total cost of column T-1 (1217.67 $/h), compressor C-3 (864.88 $/h), compressor C-2 (250.43 $/h) and multi stream heat exchanger MSHE-1 (154.19 $/h) are larger than other components. Results of the advanced exergoeconomic analysis reveal that most of the total costs of components are endogenous and can be reduced only for column T-1 and compressor C-3. With increasing the efficiency of these two components, investment and exergy destruction costs has been decreased (1381.74 $/h). Large amounts of endogenous exergy destruction cost of components represent that the interactions between the components are not a main reason for exergy destruction. Therefore, an appropriate strategy for the enhancement of the system efficiency and profitability is to improve their performance. Based on the above results, column T-1 and compressor C-3 have the highest priority to improve the performance. Sensitivity of the analysis parameters to some important operating variables have also been investigated.

  5. Molecular Genetic and Gene Therapy Studies of the Musculoskeletal System

    National Research Council Canada - National Science Library

    Baylink, David

    2004-01-01

    The primary goal of the proposed work is to apply several state of the art molecular genetic and gene therapy technologies to address fundamental questions in bone biology with a particular emphasis on attempting: l...

  6. Total System Performance Assessment Sensitivity Analyses for Final Nuclear Regulatory Commission Regulations

    International Nuclear Information System (INIS)

    Bechtel SAIC Company

    2001-01-01

    This Letter Report presents the results of supplemental evaluations and analyses designed to assess long-term performance of the potential repository at Yucca Mountain. The evaluations were developed in the context of the Nuclear Regulatory Commission (NRC) final public regulation, or rule, 10 CFR Part 63 (66 FR 55732 [DIRS 156671]), which was issued on November 2, 2001. This Letter Report addresses the issues identified in the Department of Energy (DOE) technical direction letter dated October 2, 2001 (Adams 2001 [DIRS 156708]). The main objective of this Letter Report is to evaluate performance of the potential Yucca Mountain repository using assumptions consistent with performance-assessment-related provisions of 10 CFR Part 63. The incorporation of the final Environmental Protection Agency (EPA) standard, 40 CFR Part 197 (66 FR 32074 [DIRS 155216]), and the analysis of the effect of the 40 CFR Part 197 EPA final rule on long-term repository performance are presented in the Total System Performance Assessment--Analyses for Disposal of Commercial and DOE Waste Inventories at Yucca Mountain--Input to Final Environmental Impact Statement and Site Suitability Evaluation (BSC 2001 [DIRS 156460]), referred to hereafter as the FEIS/SSE Letter Report. The Total System Performance Assessment (TSPA) analyses conducted and documented prior to promulgation of the NRC final rule 10 CFR Part 63 (66 FR 55732 [DIRS 156671]), were based on the NRC proposed rule (64 FR 8640 [DIRS 101680]). Slight differences exist between the NRC's proposed and final rules which were not within the scope of the FEIS/SSE Letter Report (BSC 2001 [DIRS 156460]), the Preliminary Site Suitability Evaluation (PSSE) (DOE 2001 [DIRS 155743]), and supporting documents for these reports. These differences include (1) the possible treatment of ''unlikely'' features, events and processes (FEPs) in evaluation of both the groundwater protection standard and the human-intrusion scenario of the individual

  7. Machine Learning in Production Systems Design Using Genetic Algorithms

    OpenAIRE

    Abu Qudeiri Jaber; Yamamoto Hidehiko Rizauddin Ramli

    2008-01-01

    To create a solution for a specific problem in machine learning, the solution is constructed from the data or by use a search method. Genetic algorithms are a model of machine learning that can be used to find nearest optimal solution. While the great advantage of genetic algorithms is the fact that they find a solution through evolution, this is also the biggest disadvantage. Evolution is inductive, in nature life does not evolve towards a good solution but it evolves aw...

  8. Systems genetic analysis of brown adipose tissue function

    Czech Academy of Sciences Publication Activity Database

    Pravenec, Michal; Saba, L. M.; Zídek, Václav; Landa, Vladimír; Mlejnek, Petr; Šilhavý, Jan; Šimáková, Miroslava; Strnad, Hynek; Trnovská, J.; Škop, V.; Hüttl, M.; Marková, I.; Oliyarnyk, O.; Malínská, H.; Kazdová, L.; Smith, H.; Tabakoff, B.

    2018-01-01

    Roč. 50, č. 1 (2018), s. 52-66 ISSN 1094-8341 R&D Projects: GA ČR(CZ) GA13-04420S Institutional support: RVO:67985823 Keywords : brown adipose tissue * coexpression modules * quantitative trait locus * recombinant inbred strains * spontaneously hypertensive rat Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Human genetics Impact factor: 3.044, year: 2016

  9. Genetic variations in the serotoninergic system contribute to amygdala volume in humans

    Directory of Open Access Journals (Sweden)

    Jin eLi

    2015-10-01

    Full Text Available The amygdala plays a critical role in emotion processing and psychiatric disorders associated with emotion dysfunction. Accumulating evidence suggests that amygdala structure is modulated by serotonin-related genes. However, there is a gap between the small contributions of single loci (less than 1% and the reported 63-65% heritability of amygdala structure. To understand the missing heritability, we systematically explored the contribution of serotonin genes on amygdala structure at the gene set level. The present study of 417 healthy Chinese volunteers examined 129 representative polymorphisms in genes from multiple biological mechanisms in the regulation of serotonin neurotransmission. A system-level approach using multiple regression analyses identified that nine SNPs collectively accounted for approximately 8% of the variance in amygdala volume. Permutation analyses showed that the probability of obtaining these findings by chance was low (p=0.043, permuted for 1000 times. Findings showed that serotonin genes contribute moderately to individual differences in amygdala volume in a healthy Chinese sample. These results indicate that the system-level approach can help us to understand the genetic basis of a complex trait such as amygdala structure.

  10. System for Automated Geoscientific Analyses (SAGA) v. 2.1.4

    Science.gov (United States)

    Conrad, O.; Bechtel, B.; Bock, M.; Dietrich, H.; Fischer, E.; Gerlitz, L.; Wehberg, J.; Wichmann, V.; Böhner, J.

    2015-07-01

    The System for Automated Geoscientific Analyses (SAGA) is an open source geographic information system (GIS), mainly licensed under the GNU General Public License. Since its first release in 2004, SAGA has rapidly developed from a specialized tool for digital terrain analysis to a comprehensive and globally established GIS platform for scientific analysis and modeling. SAGA is coded in C++ in an object oriented design and runs under several operating systems including Windows and Linux. Key functional features of the modular software architecture comprise an application programming interface for the development and implementation of new geoscientific methods, a user friendly graphical user interface with many visualization options, a command line interpreter, and interfaces to interpreted languages like R and Python. The current version 2.1.4 offers more than 600 tools, which are implemented in dynamically loadable libraries or shared objects and represent the broad scopes of SAGA in numerous fields of geoscientific endeavor and beyond. In this paper, we inform about the system's architecture, functionality, and its current state of development and implementation. Furthermore, we highlight the wide spectrum of scientific applications of SAGA in a review of published studies, with special emphasis on the core application areas digital terrain analysis, geomorphology, soil science, climatology and meteorology, as well as remote sensing.

  11. Thermodynamic, Environmental and Economic Analyses of Solar Ejector Refrigeration System Application for Cold Storage

    Directory of Open Access Journals (Sweden)

    İbrahim ÜÇGÜL

    2009-02-01

    Full Text Available The refrigeration processes have been widely applied for especially in cold storages. In these plants, the systems working with compressed vapour cooling cycles have been used as a classical method. In general, electrical energy is used for compressing in these processes. Although, mainly the electricity itself has no pollution effect on the environment, the fossil fuels that are widely used to produce electricity in the most of the world, affect the nature terribly. In short, these refrigeration plants, because of the source of the electricity pollute the nature indirectly. However, for compression an ejector refrigeration system requires one of the important renewable energy sources with negligible pollution impact on the environment, namely solar energy from a thermal source. Thermodynamical, environmental and economical aspects of the ejector refrigeration system working with solar energy was investigated in this study. As a pilot case, apple cold storage plants widely used in ISPARTA city, which 1/5 th of apple production of TURKEY has been provided from, was chosen. Enviromental and economical advantages of solar ejector refrigeration system application for cold storage dictated by thermodynamic, economic and enviromental analyses in this research.

  12. A STRONGLY COUPLED REACTOR CORE ISOLATION COOLING SYSTEM MODEL FOR EXTENDED STATION BLACK-OUT ANALYSES

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Haihua [Idaho National Laboratory; Zhang, Hongbin [Idaho National Laboratory; Zou, Ling [Idaho National Laboratory; Martineau, Richard Charles [Idaho National Laboratory

    2015-03-01

    The reactor core isolation cooling (RCIC) system in a boiling water reactor (BWR) provides makeup cooling water to the reactor pressure vessel (RPV) when the main steam lines are isolated and the normal supply of water to the reactor vessel is lost. The RCIC system operates independently of AC power, service air, or external cooling water systems. The only required external energy source is from the battery to maintain the logic circuits to control the opening and/or closure of valves in the RCIC systems in order to control the RPV water level by shutting down the RCIC pump to avoid overfilling the RPV and flooding the steam line to the RCIC turbine. It is generally considered in almost all the existing station black-out accidents (SBO) analyses that loss of the DC power would result in overfilling the steam line and allowing liquid water to flow into the RCIC turbine, where it is assumed that the turbine would then be disabled. This behavior, however, was not observed in the Fukushima Daiichi accidents, where the Unit 2 RCIC functioned without DC power for nearly three days. Therefore, more detailed mechanistic models for RCIC system components are needed to understand the extended SBO for BWRs. As part of the effort to develop the next generation reactor system safety analysis code RELAP-7, we have developed a strongly coupled RCIC system model, which consists of a turbine model, a pump model, a check valve model, a wet well model, and their coupling models. Unlike the traditional SBO simulations where mass flow rates are typically given in the input file through time dependent functions, the real mass flow rates through the turbine and the pump loops in our model are dynamically calculated according to conservation laws and turbine/pump operation curves. A simplified SBO demonstration RELAP-7 model with this RCIC model has been successfully developed. The demonstration model includes the major components for the primary system of a BWR, as well as the safety

  13. Modeling and analysing storage systems in agricultural biomass supply chain for cellulosic ethanol production

    International Nuclear Information System (INIS)

    Ebadian, Mahmood; Sowlati, Taraneh; Sokhansanj, Shahab; Townley-Smith, Lawrence; Stumborg, Mark

    2013-01-01

    Highlights: ► Studied the agricultural biomass supply chain for cellulosic ethanol production. ► Evaluated the impact of storage systems on different supply chain actors. ► Developed a combined simulation/optimization model to evaluate storage systems. ► Compared two satellite storage systems with roadside storage in terms of costs and emitted CO 2 . ► SS would lead to a more cost-efficient supply chain compared to roadside storage. -- Abstract: In this paper, a combined simulation/optimization model is developed to better understand and evaluate the impact of the storage systems on the costs incurred by each actor in the agricultural biomass supply chain including farmers, hauling contractors and the cellulosic ethanol plant. The optimization model prescribes the optimum number and location of farms and storages. It also determines the supply radius, the number of farms required to secure the annual supply of biomass and also the assignment of farms to storage locations. Given the specific design of the supply chain determined by the optimization model, the simulation model determines the number of required machines for each operation, their daily working schedule and utilization rates, along with the capacities of storages. To evaluate the impact of the storage systems on the delivered costs, three storage systems are molded and compared: roadside storage (RS) system and two satellite storage (SS) systems including SS with fixed hauling distance (SF) and SS with variable hauling distance (SV). In all storage systems, it is assumed the loading equipment is dedicated to storage locations. The obtained results from a real case study provide detailed cost figures for each storage system since the developed model analyses the supply chain on an hourly basis and considers time-dependence and stochasticity of the supply chain. Comparison of the storage systems shows SV would outperform SF and RS by reducing the total delivered cost by 8% and 6%, respectively

  14. European passive plant program preliminary safety analyses to support system design

    International Nuclear Information System (INIS)

    Saiu, Gianfranco; Barucca, Luciana; King, K.J.

    1999-01-01

    In 1994, a group of European Utilities, together with Westinghouse and its Industrial Partner GENESI (an Italian consortium including ANSALDO and FIAT), initiated a program designated EPP (European Passive Plant) to evaluate Westinghouse Passive Nuclear Plant Technology for application in Europe. In the Phase 1 of the European Passive Plant Program which was completed in 1996, a 1000 MWe passive plant reference design (EP1000) was established which conforms to the European Utility Requirements (EUR) and is expected to meet the European Safety Authorities requirements. Phase 2 of the program was initiated in 1997 with the objective of developing the Nuclear Island design details and performing supporting analyses to start development of Safety Case Report (SCR) for submittal to European Licensing Authorities. The first part of Phase 2, 'Design Definition' phase (Phase 2A) was completed at the end of 1998, the main efforts being design definition of key systems and structures, development of the Nuclear Island layout, and performing preliminary safety analyses to support design efforts. Incorporation of the EUR has been a key design requirement for the EP1000 form the beginning of the program. Detailed design solutions to meet the EUR have been defined and the safety approach has also been developed based on the EUR guidelines. The present paper describes the EP1000 approach to safety analysis and, in particular, to the Design Extension Conditions that, according to the EUR, represent the preferred method for giving consideration to the Complex Sequences and Severe Accidents at the design stage without including them in the design bases conditions. Preliminary results of some DEC analyses and an overview of the probabilistic safety assessment (PSA) are also presented. (author)

  15. IAEA coordinated research project (CRP) on 'Analytical and experimental benchmark analyses of accelerator driven systems'

    International Nuclear Information System (INIS)

    Abanades, Alberto; Aliberti, Gerardo; Gohar, Yousry; Talamo, Alberto; Bornos, Victor; Kiyavitskaya, Anna; Carta, Mario; Janczyszyn, Jerzy; Maiorino, Jose; Pyeon, Cheolho; Stanculescu, Alexander; Titarenko, Yury; Westmeier, Wolfram

    2008-01-01

    In December 2005, the International Atomic Energy Agency (IAEA) has started a Coordinated Research Project (CRP) on 'Analytical and Experimental Benchmark Analyses of Accelerator Driven Systems'. The overall objective of the CRP, performed within the framework of the Technical Working Group on Fast Reactors (TWGFR) of IAEA's Nuclear Energy Department, is to increase the capability of interested Member States in developing and applying advanced reactor technologies in the area of long-lived radioactive waste utilization and transmutation. The specific objective of the CRP is to improve the present understanding of the coupling of an external neutron source (e.g. spallation source) with a multiplicative sub-critical core. The participants are performing computational and experimental benchmark analyses using integrated calculation schemes and simulation methods. The CRP aims at integrating some of the planned experimental demonstration projects of the coupling between a sub-critical core and an external neutron source (e.g. YALINA Booster in Belarus, and Kyoto University's Critical Assembly (KUCA)). The objective of these experimental programs is to validate computational methods, obtain high energy nuclear data, characterize the performance of sub-critical assemblies driven by external sources, and to develop and improve techniques for sub-criticality monitoring. The paper summarizes preliminary results obtained to-date for some of the CRP benchmarks. (authors)

  16. Uncertainty and sensitivity analyses of the complete program system UFOMOD and of selected submodels

    International Nuclear Information System (INIS)

    Fischer, F.; Ehrhardt, J.; Hasemann, I.

    1990-09-01

    Uncertainty and sensitivity studies with the program system UFOMOD have been performed since several years on a submodel basis to get a deeper insight into the propagation of parameter uncertainties through the different modules and to quantify their contribution to the confidence bands of the intermediate and final results of an accident consequence assessment. In a series of investigations with the atmospheric dispersion module, the models describing early protective actions, the models calculating short-term organ doses and the health effects model of the near range subsystem NE of UFOMOD, a great deal of experience has been gained with methods and evaluation techniques for uncertainty and sensitivity analyses. Especially the influence on results of different sampling techniques and sample sizes, parameter distributions and correlations could be quantified and the usefulness of sensitivity measures for the interpretation of results could be demonstrated. In each submodel investigation, the (5%, 95%)-confidende bounds of the complementary cumulative frequency distributions (CCFDs) of various consequence types (activity concentrations of I-131 and Cs-137, individual acute organ doses, individual risks of nonstochastic health effects, and the number of early deaths) were calculated. The corresponding sensitivity analyses for each of these endpoints led to a list of parameters contributing significantly to the variation of mean values and 99% - fractiles. The most important parameters were extracted and combined for the final overall analysis. (orig.) [de

  17. Giant Galápagos tortoises; molecular genetic analyses identify a trans-island hybrid in a repatriation program of an endangered taxon

    Directory of Open Access Journals (Sweden)

    Caccone Adalgisa

    2007-02-01

    Full Text Available Abstract Background Giant Galápagos tortoises on the island of Española have been the focus of an intensive captive breeding-repatriation programme for over 35 years that saved the taxon from extinction. However, analysis of 118 samples from released individuals indicated that the bias sex ratio and large variance in reproductive success among the 15 breeders has severely reduced the effective population size (Ne. Results We report here that an analysis of an additional 473 captive-bred tortoises released back to the island reveals an individual (E1465 that exhibits nuclear microsatellite alleles not found in any of the 15 breeders. Statistical analyses incorporating genotypes of 304 field-sampled individuals from all populations on the major islands indicate that E1465 is most probably a hybrid between an Española female tortoise and a male from the island of Pinzón, likely present on Española due to human transport. Conclusion Removal of E1465 as well as its father and possible (half-siblings is warranted to prevent further contamination within this taxon of particular conservation significance. Despite this detected single contamination, it is highly noteworthy to emphasize the success of this repatriation program conducted over nearly 40 years and involving release of over 2000 captive-bred tortoises that now reproduce in situ. The incorporation of molecular genetic analysis of the program is providing guidance that will aid in monitoring the genetic integrity of this ambitious effort to restore a unique linage of a spectacular animal.

  18. SDMtoolbox 2.0: the next generation Python-based GIS toolkit for landscape genetic, biogeographic and species distribution model analyses

    Directory of Open Access Journals (Sweden)

    Jason L. Brown

    2017-12-01

    Full Text Available SDMtoolbox 2.0 is a software package for spatial studies of ecology, evolution, and genetics. The release of SDMtoolbox 2.0 allows researchers to use the most current ArcGIS software and MaxEnt software, and reduces the amount of time that would be spent developing common solutions. The central aim of this software is to automate complicated and repetitive spatial analyses in an intuitive graphical user interface. One core tenant facilitates careful parameterization of species distribution models (SDMs to maximize each model’s discriminatory ability and minimize overfitting. This includes carefully processing of occurrence data, environmental data, and model parameterization. This program directly interfaces with MaxEnt, one of the most powerful and widely used species distribution modeling software programs, although SDMtoolbox 2.0 is not limited to species distribution modeling or restricted to modeling in MaxEnt. Many of the SDM pre- and post-processing tools have ‘universal’ analogs for use with any modeling software. The current version contains a total of 79 scripts that harness the power of ArcGIS for macroecology, landscape genetics, and evolutionary studies. For example, these tools allow for biodiversity quantification (such as species richness or corrected weighted endemism, generation of least-cost paths and corridors among shared haplotypes, assessment of the significance of spatial randomizations, and enforcement of dispersal limitations of SDMs projected into future climates—to only name a few functions contained in SDMtoolbox 2.0. Lastly, dozens of generalized tools exists for batch processing and conversion of GIS data types or formats, which are broadly useful to any ArcMap user.

  19. Genetic Structuration, Demography and Evolutionary History of Mycobacterium tuberculosis LAM9 Sublineage in the Americas as Two Distinct Subpopulations Revealed by Bayesian Analyses

    Science.gov (United States)

    Reynaud, Yann; Millet, Julie; Rastogi, Nalin

    2015-01-01

    Tuberculosis (TB) remains broadly present in the Americas despite intense global efforts for its control and elimination. Starting from a large dataset comprising spoligotyping (n = 21183 isolates) and 12-loci MIRU-VNTRs data (n = 4022 isolates) from a total of 31 countries of the Americas (data extracted from the SITVIT2 database), this study aimed to get an overview of lineages circulating in the Americas. A total of 17119 (80.8%) strains belonged to the Euro-American lineage 4, among which the most predominant genotypic family belonged to the Latin American and Mediterranean (LAM) lineage (n = 6386, 30.1% of strains). By combining classical phylogenetic analyses and Bayesian approaches, this study revealed for the first time a clear genetic structuration of LAM9 sublineage into two subpopulations named LAM9C1 and LAM9C2, with distinct genetic characteristics. LAM9C1 was predominant in Chile, Colombia and USA, while LAM9C2 was predominant in Brazil, Dominican Republic, Guadeloupe and French Guiana. Globally, LAM9C2 was characterized by higher allelic richness as compared to LAM9C1 isolates. Moreover, LAM9C2 sublineage appeared to expand close to twenty times more than LAM9C1 and showed older traces of expansion. Interestingly, a significant proportion of LAM9C2 isolates presented typical signature of ancestral LAM-RDRio MIRU-VNTR type (224226153321). Further studies based on Whole Genome Sequencing of LAM strains will provide the needed resolution to decipher the biogeographical structure and evolutionary history of this successful family. PMID:26517715

  20. SDMtoolbox 2.0: the next generation Python-based GIS toolkit for landscape genetic, biogeographic and species distribution model analyses.

    Science.gov (United States)

    Brown, Jason L; Bennett, Joseph R; French, Connor M

    2017-01-01

    SDMtoolbox 2.0 is a software package for spatial studies of ecology, evolution, and genetics. The release of SDMtoolbox 2.0 allows researchers to use the most current ArcGIS software and MaxEnt software, and reduces the amount of time that would be spent developing common solutions. The central aim of this software is to automate complicated and repetitive spatial analyses in an intuitive graphical user interface. One core tenant facilitates careful parameterization of species distribution models (SDMs) to maximize each model's discriminatory ability and minimize overfitting. This includes carefully processing of occurrence data, environmental data, and model parameterization. This program directly interfaces with MaxEnt, one of the most powerful and widely used species distribution modeling software programs, although SDMtoolbox 2.0 is not limited to species distribution modeling or restricted to modeling in MaxEnt. Many of the SDM pre- and post-processing tools have 'universal' analogs for use with any modeling software. The current version contains a total of 79 scripts that harness the power of ArcGIS for macroecology, landscape genetics, and evolutionary studies. For example, these tools allow for biodiversity quantification (such as species richness or corrected weighted endemism), generation of least-cost paths and corridors among shared haplotypes, assessment of the significance of spatial randomizations, and enforcement of dispersal limitations of SDMs projected into future climates-to only name a few functions contained in SDMtoolbox 2.0. Lastly, dozens of generalized tools exists for batch processing and conversion of GIS data types or formats, which are broadly useful to any ArcMap user.

  1. Analyses of an air conditioning system with entropy generation minimization and entransy theory

    International Nuclear Information System (INIS)

    Wu Yan-Qiu; Cai Li; Wu Hong-Juan

    2016-01-01

    In this paper, based on the generalized heat transfer law, an air conditioning system is analyzed with the entropy generation minimization and the entransy theory. Taking the coefficient of performance (denoted as COP ) and heat flow rate Q out which is released into the room as the optimization objectives, we discuss the applicabilities of the entropy generation minimization and entransy theory to the optimizations. Five numerical cases are presented. Combining the numerical results and theoretical analyses, we can conclude that the optimization applicabilities of the two theories are conditional. If Q out is the optimization objective, larger entransy increase rate always leads to larger Q out , while smaller entropy generation rate does not. If we take COP as the optimization objective, neither the entropy generation minimization nor the concept of entransy increase is always applicable. Furthermore, we find that the concept of entransy dissipation is not applicable for the discussed cases. (paper)

  2. Analysing context-dependent deviations in interacting with safety-critical systems

    International Nuclear Information System (INIS)

    Paterno, Fabio; Santoro, Carmen

    2006-01-01

    Mobile technology is penetrating many areas of human life. This implies that the context of use can vary in many respects. We present a method that aims to support designers in managing the complex design space when considering applications with varying contexts and help them to identify solutions that support users in performing their activities while preserving usability and safety. The method is a novel combination of an analysis of both potential deviations in task performance and most suitable information representations based on distributed cognition. The originality of the contribution is in providing a conceptual tool for better understanding the impact of context of use on user interaction in safety-critical domains. In order to present our approach we provide an example in which the implications of introducing new support through mobile devices in a safety-critical system are identified and analysed in terms of potential hazards

  3. Designing educational software for analysing pressurised hydraulic systems in civil engineering

    Directory of Open Access Journals (Sweden)

    Myriam Rocío Pallares Muñoz

    2006-09-01

    Full Text Available New information technologies have opened up a world of inexhaustible possibilities in teaching. Using such technologies in technical teaching has become indispensable due to the nature of current resources in industrial design and production. This work consists of preparing didactic material (educational software aimed at tea- ching fluid mechanics, particularly analysing tube, tank and pumping systems, initially aimed at civil engineering students from the Universidad Santo Tomás in Bogotá. Such materials have been successfully developed and used in their formal programmes by several universities around the world during the last few years. The didactic software mentioned in this work was constructed using Visual Basic programming language. This has resulted in a very useful educational tool, leading to effective teacher—student communication which is suitable for both the classroom and students’ personal work (Angel y Bautista, 2001; Aguiar, 2002.

  4. MOSRA-SRAC. Lattice calculation module of the modular code system for nuclear reactor analyses MOSRA

    International Nuclear Information System (INIS)

    Okumura, Keisuke

    2015-10-01

    MOSRA-SRAC is a lattice calculation module of the Modular code System for nuclear Reactor Analyses (MOSRA). This module performs the neutron transport calculation for various types of fuel elements including existing light water reactors, research reactors, etc. based on the collision probability method with a set of the 200-group cross-sections generated from the Japanese Evaluated Nuclear Data Library JENDL-4.0. It has also a function of the isotope generation and depletion calculation for up to 234 nuclides in each fuel material in the lattice. In these ways, MOSRA-SRAC prepares the burn-up dependent effective microscopic and macroscopic cross-section data to be used in core calculations. A CD-ROM is attached as an appendix. (J.P.N.)

  5. Clinical-radiological, histological and genetic analyses in a lung transplant recipient with Mounier-Kuhn syndrome and end-stage chronic obstructive pulmonary disease.

    Science.gov (United States)

    Mitterbauer, Andreas; Hoetzenecker, Konrad; Birner, Peter; Mildner, Michael; Prosch, Helmut; Streubel, Berthold; Taghavi, Shahrokh; Klepetko, Walter; Ankersmit, Hendrik Jan

    2015-07-01

    The Mounier-Kuhn syndrome (MKS) is a rare disease characterized by a pathological dilation of the trachea and the bronchial system. The etiology of the disorder remains elusive, but genetic alterations and degradation of elastic fibers are thought to be involved in the pathogenesis. No causative treatment is available although transplantation is an option for end-stage disease. Here, we describe a patient suffering from MKS who received a double lung transplant at our department. Since a familial clustering of MKS is discussed in the literature, we performed a chromosomal analysis and an array-comparative genomic hybridization (CGH) to search for genetic abnormalities. At the time of transplantation, we collected samples from the bronchi and performed hematoxylin and eosin (HE), Elastic von-Gieson (EVG) and immunohistochemical stains of the explanted MKS bronchus, a control bronchus and of the inflammatory infiltrates. Specimens of main bronchi from the donor lung harvested for transplant served as control. Bronchial smears were taken from both main bronchi of the recipient for microbiological cultures. No genetic alterations could be found in chromosomal analysis and in array-CGH. Histological analysis revealed a strong reduction of elastic fibers in the submucosal connective tissue and a diffuse inflammatory infiltrate, mainly comprised of CD4+ cells. In addition, immunohistochemistry showed increased matrix metalloproteinases (MMPs) protein expression of MMP-1, 2, 3 and 9. Based on our findings, we hypothesize that MKS is a chronic inflammatory disease characterized by an MMP-mediated degradation of submucosal elastic fibers. © 2014 John Wiley & Sons Ltd.

  6. Sensitivity analyses of seismic behavior of spent fuel dry cask storage systems

    International Nuclear Information System (INIS)

    Luk, V.K.; Spencer, B.W.; Shaukat, S.K.; Lam, I.P.; Dameron, R.A.

    2003-01-01

    Sandia National Laboratories is conducting a research project to develop a comprehensive methodology for evaluating the seismic behavior of spent fuel dry cask storage systems (DCSS) for the Office of Nuclear Regulatory Research of the U.S. Nuclear Regulatory Commission (NRC). A typical Independent Spent Fuel Storage Installation (ISFSI) consists of arrays of free-standing storage casks resting on concrete pads. In the safety review process of these cask systems, their seismically induced horizontal displacements and angular rotations must be quantified to determine whether casks will overturn or neighboring casks will collide during a seismic event. The ABAQUS/Explicit code is used to analyze three-dimensional coupled finite element models consisting of three submodels, which are a cylindrical cask or a rectangular module, a flexible concrete pad, and an underlying soil foundation. The coupled model includes two sets of contact surfaces between the submodels with prescribed coefficients of friction. The seismic event is described by one vertical and two horizontal components of statistically independent seismic acceleration time histories. A deconvolution procedure is used to adjust the amplitudes and frequency contents of these three-component reference surface motions before applying them simultaneously at the soil foundation base. The research project focused on examining the dynamic and nonlinear seismic behavior of the coupled model of free-standing DCSS including soil-structure interaction effects. This paper presents a subset of analysis results for a series of parametric analyses. Input variables in the parametric analyses include: designs of the cask/module, time histories of the seismic accelerations, coefficients of friction at the cask/pad interface, and material properties of the soil foundation. In subsequent research, the analysis results will be compiled and presented in nomograms to highlight the sensitivity of seismic response of DCSS to

  7. Comparative analyses of forest fuels in a life cycle perspective with a focus on transport systems

    Energy Technology Data Exchange (ETDEWEB)

    Eriksson, Lisa Naeslund [Ecotechnology, Department of Engineering, Physics and Mathematics, Mid Sweden University, SE-831 25 Oestersund (Sweden)

    2008-08-15

    Local, national and international transportation of forest fuels with regard to costs, primary energy use and CO{sub 2} emission was analysed. The main issue was the extent to which both mode and distance of transport affect the monetary cost, CO{sub 2} emission and primary energy use arising from the use of various types of forest residues for energy purpose. Local applications proved the most efficient options of those studied. Chipping of bundles at a terminal, for transport by rail and sea to national or international end-users, has low costs and produces only modest CO{sub 2} emissions. For the pellet options, the cost is about the same as for chipping, but require more primary energy and emit more CO{sub 2}. The traditional chipping system is more expensive than the other options. The costs of the international options over a transport distance of 1100 km vary between 21 and 28 EUR{sub 2007}/MWh, whereas pellet options cost between 22 and 25 EUR{sub 2007}/MWh. The primary energy required for transport of logging residues vis-a-vis pellets falls in the range 4-7% and 2-4%, respectively, of the bio-energy delivered. The primary energy needed to produce pellets gives them a lower fossil fuel substitution rate per hectare, compared with bundle systems. Similarly, for chip systems vis-a-vis bundle systems, the biomass delivered to the conversion plant is reduced by the greater physical dry-matter losses entailed by chipping systems in the forest-fuel chain. (author)

  8. Genetic Programming for Medicinal Plant Family Identification System

    Directory of Open Access Journals (Sweden)

    Indra Laksmana

    2014-11-01

    Full Text Available Information about medicinal plants that is available in text documents is generally quite easy to access, however, one needs some efforts to use it. This research was aimed at utilizing crucial information taken from a text document to identify the family of several species of medicinal plants using a heuristic approach, i.e. genetic programming. Each of the species has its unique features. The genetic program puts the characteristics or special features of each family into a tree form. There are a number of processes involved in the investigated method, i.e. data acquisition, booleanization, grouping of training and test data, evaluation, and analysis. The genetic program uses a training process to select the best individual, initializes a generate-rule process to create several individuals and then executes a fitness evaluation. The next procedure is a genetic operation process, which consists of tournament selection to choose the best individual based on a fitness value, the crossover operation and the mutation operation. These operations have the purpose of complementing the individual. The best individual acquired is the expected solution, which is a rule for classifying medicinal plants. This process produced three rules, one for each plant family, displaying a feature structure that distinguishes each of the families from each other. The genetic program then used these rules to identify the medicinal plants, achieving an average accuracy of 86.47%.

  9. Using genetics to test the causal relationship of total adiposity and periodontitis: Mendelian randomization analyses in the Gene-Lifestyle Interactions and Dental Endpoints (GLIDE) Consortium

    Science.gov (United States)

    Shungin, Dmitry; Cornelis, Marilyn C; Divaris, Kimon; Holtfreter, Birte; Shaffer, John R; Yu, Yau-Hua; Barros, Silvana P; Beck, James D; Biffar, Reiner; Boerwinkle, Eric A; Crout, Richard J.; Ganna, Andrea; Hallmans, Goran; Hindy, George; Hu, Frank B; Kraft, Peter; McNeil, Daniel W; Melander, Olle; Moss, Kevin L; North, Kari E; Orho-Melander, Marju; Pedersen, Nancy L; Ridker, Paul M; Rimm, Eric B; Rose, Lynda M; Rukh, Gull; Teumer, Alexander; Weyant, Robert J; Chasman, Daniel I; Joshipura, Kaumudi; Kocher, Thomas; Magnusson, Patrik KE; Marazita, Mary L; Nilsson, Peter; Offenbacher, Steve; Davey Smith, George; Lundberg, Pernilla; Palmer, Tom M; Timpson, Nicholas J; Johansson, Ingegerd; Franks, Paul W

    2015-01-01

    Background: The observational relationship between obesity and periodontitis is widely known, yet causal evidence is lacking. Our objective was to investigate causal associations between periodontitis and body mass index (BMI). Methods: We performed Mendelian randomization analyses with BMI-associated loci combined in a genetic risk score (GRS) as the instrument for BMI. All analyses were conducted within the Gene-Lifestyle Interactions and Dental Endpoints (GLIDE) Consortium in 13 studies from Europe and the USA, including 49 066 participants with clinically assessed (seven studies, 42.1% of participants) and self-reported (six studies, 57.9% of participants) periodontitis and genotype data (17 672/31 394 with/without periodontitis); 68 761 participants with BMI and genotype data; and 57 871 participants (18 881/38 990 with/without periodontitis) with data on BMI and periodontitis. Results: In the observational meta-analysis of all participants, the pooled crude observational odds ratio (OR) for periodontitis was 1.13 [95% confidence interval (CI): 1.03, 1.24] per standard deviation increase of BMI. Controlling for potential confounders attenuated this estimate (OR = 1.08; 95% CI:1.03, 1.12). For clinically assessed periodontitis, corresponding ORs were 1.25 (95% CI: 1.10, 1.42) and 1.13 (95% CI: 1.10, 1.17), respectively. In the genetic association meta-analysis, the OR for periodontitis was 1.01 (95% CI: 0.99, 1.03) per GRS unit (per one effect allele) in all participants and 1.00 (95% CI: 0.97, 1.03) in participants with clinically assessed periodontitis. The instrumental variable meta-analysis of all participants yielded an OR of 1.05 (95% CI: 0.80, 1.38) per BMI standard deviation, and 0.90 (95% CI: 0.56, 1.46) in participants with clinical data. Conclusions: Our study does not support total adiposity as a causal risk factor for periodontitis, as the point estimate is very close to the null in the causal inference analysis, with wide

  10. Evaluating oversight systems for emerging technologies: a case study of genetically engineered organisms.

    Science.gov (United States)

    Kuzma, Jennifer; Najmaie, Pouya; Larson, Joel

    2009-01-01

    The U.S. oversight system for genetically engineered organisms (GEOs) was evaluated to develop hypotheses and derive lessons for oversight of other emerging technologies, such as nanotechnology. Evaluation was based upon quantitative expert elicitation, semi-standardized interviews, and historical literature analysis. Through an interdisciplinary policy analysis approach, blending legal, ethical, risk analysis, and policy sciences viewpoints, criteria were used to identify strengths and weaknesses of GEOs oversight and explore correlations among its attributes and outcomes. From the three sources of data, hypotheses and broader conclusions for oversight were developed. Our analysis suggests several lessons for oversight of emerging technologies: the importance of reducing complexity and uncertainty in oversight for minimizing financial burdens on small product developers; consolidating multi-agency jurisdictions to avoid gaps and redundancies in safety reviews; consumer benefits for advancing acceptance of GEO products; rigorous and independent pre- and post-market assessment for environmental safety; early public input and transparency for ensuring public confidence; and the positive role of public input in system development, informed consent, capacity, compliance, incentives, and data requirements and stringency in promoting health and environmental safety outcomes, as well as the equitable distribution of health impacts. Our integrated approach is instructive for more comprehensive analyses of oversight systems, developing hypotheses for how features of oversight systems affect outcomes, and formulating policy options for oversight of future technological products, especially nanotechnology products.

  11. Combined analytical and numerical approaches in Dynamic Stability analyses of engineering systems

    Science.gov (United States)

    Náprstek, Jiří

    2015-03-01

    Dynamic Stability is a widely studied area that has attracted many researchers from various disciplines. Although Dynamic Stability is usually associated with mechanics, theoretical physics or other natural and technical disciplines, it is also relevant to social, economic, and philosophical areas of our lives. Therefore, it is useful to occasionally highlight the general aspects of this amazing area, to present some relevant examples and to evaluate its position among the various branches of Rational Mechanics. From this perspective, the aim of this study is to present a brief review concerning the Dynamic Stability problem, its basic definitions and principles, important phenomena, research motivations and applications in engineering. The relationships with relevant systems that are prone to stability loss (encountered in other areas such as physics, other natural sciences and engineering) are also noted. The theoretical background, which is applicable to many disciplines, is presented. In this paper, the most frequently used Dynamic Stability analysis methods are presented in relation to individual dynamic systems that are widely discussed in various engineering branches. In particular, the Lyapunov function and exponent procedures, Routh-Hurwitz, Liénard, and other theorems are outlined together with demonstrations. The possibilities for analytical and numerical procedures are mentioned together with possible feedback from experimental research and testing. The strengths and shortcomings of these approaches are evaluated together with examples of their effective complementing of each other. The systems that are widely encountered in engineering are presented in the form of mathematical models. The analyses of their Dynamic Stability and post-critical behaviour are also presented. The stability limits, bifurcation points, quasi-periodic response processes and chaotic regimes are discussed. The limit cycle existence and stability are examined together with their

  12. System Evaluations and Life-Cycle Cost Analyses for High-Temperature Electrolysis Hydrogen Production Facilities

    Energy Technology Data Exchange (ETDEWEB)

    Edwin A. Harvego; James E. O' Brien; Michael G. McKellar

    2012-05-01

    This report presents results of system evaluations and lifecycle cost analyses performed for several different commercial-scale high-temperature electrolysis (HTE) hydrogen production concepts. The concepts presented in this report rely on grid electricity and non-nuclear high-temperature process heat sources for the required energy inputs. The HYSYS process analysis software was used to evaluate both central plant designs for large-scale hydrogen production (50,000 kg/day or larger) and forecourt plant designs for distributed production and delivery at about 1,500 kg/day. The HYSYS software inherently ensures mass and energy balances across all components and it includes thermodynamic data for all chemical species. The optimized designs described in this report are based on analyses of process flow diagrams that included realistic representations of fluid conditions and component efficiencies and operating parameters for each of the HTE hydrogen production configurations analyzed. As with previous HTE system analyses performed at the INL, a custom electrolyzer model was incorporated into the overall process flow sheet. This electrolyzer model allows for the determination of the average Nernst potential, cell operating voltage, gas outlet temperatures, and electrolyzer efficiency for any specified inlet steam, hydrogen, and sweep-gas flow rates, current density, cell active area, and external heat loss or gain. The lifecycle cost analyses were performed using the H2A analysis methodology developed by the Department of Energy (DOE) Hydrogen Program. This methodology utilizes spreadsheet analysis tools that require detailed plant performance information (obtained from HYSYS), along with financial and cost information to calculate lifecycle costs. There are standard default sets of assumptions that the methodology uses to ensure consistency when comparing the cost of different production or plant design options. However, these assumptions may also be varied within the

  13. Community acquired pneumonia: genetic variants influencing systemic inflammation.

    Science.gov (United States)

    Ferrer Agüero, J M; Millán, S; Rodríguez de Castro, F; Martín-Loeches, I; Solé Violán, J

    2014-01-01

    The inflammatory response depends on several factors, including pathogenicity and duration of the stimulus, and also on the balance between inflammatory and antiinflammatory response. Several studies have presented evidence of the importance of genetic factors in severe infections. The innate immune response prevents the invasion and spread of pathogens during the first hours after infection. Each of the different processes involved in innate immunity may be affected by genetic polymorphisms, which can result in susceptibility or resistance to infection. The results obtained in the different studies do not irrefutably prove the role or function of a gene in the pathogenesis of respiratory infections. However, they can generate new hypotheses, suggest new candidate genes based on their role in the inflammatory response, and constitute a first step in understanding the underlying genetic factors. Copyright © 2013 Elsevier España, S.L. and SEMICYUC. All rights reserved.

  14. Systems genetics analysis of pharmacogenomics variation during antidepressant treatment

    DEFF Research Database (Denmark)

    Madsen, Majbritt Busk; Kogelman, L J A; Kadarmideen, H N

    2016-01-01

    Selective serotonin reuptake inhibitors (SSRIs) are the most widely used antidepressants, but the efficacy of the treatment varies significantly among individuals. It is believed that complex genetic mechanisms play a part in this variation. We have used a network based approach to unravel the in...... genes involved in calcium homeostasis. In conclusion, we suggest a difference in genetic interaction networks between initial and subsequent SSRI response.The Pharmacogenomics Journal advance online publication, 18 October 2016; doi:10.1038/tpj.2016.68....

  15. Energy and exergy analyses of a biomass trigeneration system using an organic Rankine cycle

    International Nuclear Information System (INIS)

    Al-Sulaiman, Fahad A.; Dincer, Ibrahim; Hamdullahpur, Feridun

    2012-01-01

    In this study, energy and exergy analyses of a biomass trigeneration system using an organic Rankine cycle (ORC) are presented. Four cases are considered for analysis: electrical-power, cooling-cogeneration, heating-cogeneration and trigeneration cases. The results obtained reveal that the best performance of the trigeneration system considered can be obtained with the lowest ORC evaporator pinch temperature considered, T pp = 20 K, and the lowest ORC minimum temperature, T 9 = 345 K. In addition, this study reveals that there is a significant improvement when trigeneration is used as compared to only electrical power production. This study demonstrates that the fuel utilization efficiency increases, in average, from 12% for electrical power to 88% for trigeneration. Moreover, the maximum exergy efficiency of the ORC is 13% and, when trigeneration is used, it increases to 28%. Furthermore, this study reveals that the electrical to cooling ratio can be controlled through changing the ORC evaporator pinch point temperature and/or the pump inlet temperature. In addition, the study reveals that the biomass burner and the ORC evaporator are the main two sources of exergy destruction. The biomass burner contributes to 55% of the total destructed exergy whereas the ORC evaporator contributes to 38% of the total destructed exergy. -- Highlights: ► The best performance can be obtained with the lowest ORC evaporator pinch temperature and the lowest ORC minimum temperature. ► There is, on average, 75 % gain in energy efficiency for trigeneration compared to electrical system. ► There is, on average, 17% gain in exergy efficiency when trigeneration is used as compared to electrical system. ► The electrical to cooling ratio is sensitive to the variation of the pinch point temperature and pump inlet temperature. ► The two main sources of the exergy destruction are the biomass burner with 55% and the ORC evaporator with 38%.

  16. Additional Development and Systems Analyses of Pneumatic Technology for High Speed Civil Transport Aircraft

    Science.gov (United States)

    Englar, Robert J.; Willie, F. Scott; Lee, Warren J.

    1999-01-01

    In the Task I portion of this NASA research grant, configuration development and experimental investigations have been conducted on a series of pneumatic high-lift and control surface devices applied to a generic High Speed Civil Transport (HSCT) model configuration to determine their potential for improved aerodynamic performance, plus stability and control of higher performance aircraft. These investigations were intended to optimize pneumatic lift and drag performance; provide adequate control and longitudinal stability; reduce separation flowfields at high angle of attack; increase takeoff/climbout lift-to-drag ratios; and reduce system complexity and weight. Experimental aerodynamic evaluations were performed on a semi-span HSCT generic model with improved fuselage fineness ratio and with interchangeable plain flaps, blown flaps, pneumatic Circulation Control Wing (CCW) high-lift configurations, plain and blown canards, a novel Circulation Control (CC) cylinder blown canard, and a clean cruise wing for reference. Conventional tail power was also investigated for longitudinal trim capability. Also evaluated was unsteady pulsed blowing of the wing high-lift system to determine if reduced pulsed mass flow rates and blowing requirements could be made to yield the same lift as that resulting from steady-state blowing. Depending on the pulsing frequency applied, reduced mass flow rates were indeed found able to provide lift augmentation at lesser blowing values than for the steady conditions. Significant improvements in the aerodynamic characteristics leading to improved performance and stability/control were identified, and the various components were compared to evaluate the pneumatic potential of each. Aerodynamic results were provided to the Georgia Tech Aerospace System Design Lab. to conduct the companion system analyses and feasibility study (Task 2) of theses concepts applied to an operational advanced HSCT aircraft. Results and conclusions from these

  17. An Interpretation of Part of Gilbert Gottlieb's Legacy: Developmental Systems Theory Contra Developmental Behavior Genetics

    Science.gov (United States)

    Molenaar, Peter C. M.

    2015-01-01

    The main theme of this paper concerns the persistent critique of Gilbert Gottlieb on developmental behavior genetics and my reactions to this critique, the latter changing from rejection to complete acceptation. Concise characterizations of developmental behavior genetics, developmental systems theory (to which Gottlieb made essential…

  18. Genetic algorithms for adaptive real-time control in space systems

    Science.gov (United States)

    Vanderzijp, J.; Choudry, A.

    1988-01-01

    Genetic Algorithms that are used for learning as one way to control the combinational explosion associated with the generation of new rules are discussed. The Genetic Algorithm approach tends to work best when it can be applied to a domain independent knowledge representation. Applications to real time control in space systems are discussed.

  19. Morphological and Genetic Analyses of the Invasive Forest Pathogen Phytophthora austrocedri Reveal that Two Clonal Lineages Colonized Britain and Argentina from a Common Ancestral Population.

    Science.gov (United States)

    Henricot, Béatrice; Pérez-Sierra, Ana; Armstrong, April C; Sharp, Paul M; Green, Sarah

    2017-12-01

    Phytophthora austrocedri is causing widespread mortality of Austrocedrus chilensis in Argentina and Juniperus communis in Britain. The pathogen has also been isolated from J. horizontalis in Germany. Isolates from Britain, Argentina, and Germany are homothallic, with no clear differences in the dimensions of sporangia, oogonia, or oospores. Argentinian and German isolates grew faster than British isolates across a range of media and had a higher temperature tolerance, although most isolates, regardless of origin, grew best at 15°C and all isolates were killed at 25°C. Argentinian and British isolates caused lesions when inoculated onto both A. chilensis and J. communis; however, the Argentinian isolate caused longer lesions on A. chilensis than on J. communis and vice versa for the British isolate. Genetic analyses of nuclear and mitochondrial loci showed that all British isolates are identical. Argentinian isolates and the German isolate are also identical but differ from the British isolates. Single-nucleotide polymorphisms are shared between the British and Argentinian isolates. We concluded that British isolates and Argentinian isolates conform to two distinct clonal lineages of P. austrocedri founded from the same as-yet-unidentified source population. These lineages should be recognized and treated as separate risks by international plant health legislation.

  20. Population differentiation of the shore crab Carcinus maenas (Brachyura: Portunidae on the southwest English coast based on genetic and morphometric analyses

    Directory of Open Access Journals (Sweden)

    Inês C. Silva

    2010-08-01

    Full Text Available Carcinus maenas has a planktonic larval phase which can potentially disperse over large distances. Consequently, larval transport is expected to play an important role in promoting gene flow and determining population structure. In the present study, population structuring on the southwest coast of England was analysed using molecular and morphometric approaches. Variation at eight microsatellite loci suggested that the individuals sampled within this region comprise a single genetic population and that gene flow among them is not restricted. Nevertheless, the FST values estimated across loci for all populations suggested that the Tamar population was significantly different from the Exe, Camel and Torridge populations. This differentiation is not explained by isolation by distance, and coastal hydrological events that are apparently influencing larval flux might be the cause of this pattern. Morphometric analysis was also performed. Analysis of carapace and chela shape variation using landmark-based geometric morphometrics revealed extensive morphological variability, as the multivariate analysis of variance showed significant morphometric differences among geographic groups for both sexes. Thus, the morphological differentiation found may be a plastic response to habitat-specific selection pressures.

  1. Lambda phage genetic switch as a system with critical behaviour

    Czech Academy of Sciences Publication Activity Database

    Vohradský, Jiří

    2017-01-01

    Roč. 431, OCT 27 2017 (2017), s. 32-38 ISSN 0022-5193 R&D Projects: GA MŠk(CZ) LM2015055 Institutional support: RVO:61388971 Keywords : Critical behaviour * Phage lambda * Genetic networks Subject RIV: EE - Microbiology, Virology OBOR OECD: Microbiology Impact factor: 2.113, year: 2016

  2. The Possibility to Use Genetic Algorithms and Fuzzy Systems in the Development of Tutorial Systems

    Directory of Open Access Journals (Sweden)

    Anca Ioana ANDREESCU

    2006-01-01

    Full Text Available In this paper we are presenting state of the art information methods and techniques that can be applied in the development of efficient tutorial systems and also the possibility to use genetic algorithms and fuzzy systems in the construction of such systems. All this topics have been studied during the development of the research project INFOSOC entitled "Tutorial System based on Eduknowledge for Work Security and Health in SMEs According to the European Union Directives" accomplished by a teaching stuff from the Academy of Economic Studies, Bucharest, in collaboration with the National Institute for Research and Development in Work Security, the National Institute for Small and Middle Enterprises and SC Q’NET International srl.

  3. Validation and application of the system code ATHLET-CD for BWR severe accident analyses

    Energy Technology Data Exchange (ETDEWEB)

    Di Marcello, Valentino, E-mail: valentino.marcello@kit.edu; Imke, Uwe; Sanchez, Victor

    2016-10-15

    Highlights: • We present the application of the system code ATHLET-CD code for BWR safety analyses. • Validation of core in-vessel models is performed based on KIT CORA experiments. • A SB-LOCA scenario is simulated on a generic German BWR plant up to vessel failure. • Different core reflooding possibilities are investigated to mitigate the accident consequences. • ATHLET-CD modelling features reflect the current state of the art of severe accident codes. - Abstract: This paper is aimed at the validation and application of the system code ATHLET-CD for the simulation of severe accident phenomena in Boiling Water Reactors (BWR). The corresponding models for core degradation behaviour e.g., oxidation, melting and relocation of core structural components are validated against experimental data available from the CORA-16 and -17 bundle tests. Model weaknesses are discussed along with needs for further code improvements. With the validated ATHLET-CD code, calculations are performed to assess the code capabilities for the prediction of in-vessel late phase core behaviour and reflooding of damaged fuel rods. For this purpose, a small break LOCA scenario for a generic German BWR with postulated multiple failures of the safety systems was selected. In the analysis, accident management measures represented by cold water injection into the damaged reactor core are addressed to investigate the efficacy in avoiding or delaying the failure of the reactor pressure vessel. Results show that ATHLET-CD is applicable to the description of BWR plant behaviour with reliable physical models and numerical methods adopted for the description of key in-vessel phenomena.

  4. Novel hybrid Monte Carlo/deterministic technique for shutdown dose rate analyses of fusion energy systems

    International Nuclear Information System (INIS)

    Ibrahim, Ahmad M.; Peplow, Douglas E.; Peterson, Joshua L.; Grove, Robert E.

    2014-01-01

    Highlights: •Develop the novel Multi-Step CADIS (MS-CADIS) hybrid Monte Carlo/deterministic method for multi-step shielding analyses. •Accurately calculate shutdown dose rates using full-scale Monte Carlo models of fusion energy systems. •Demonstrate the dramatic efficiency improvement of the MS-CADIS method for the rigorous two step calculations of the shutdown dose rate in fusion reactors. -- Abstract: The rigorous 2-step (R2S) computational system uses three-dimensional Monte Carlo transport simulations to calculate the shutdown dose rate (SDDR) in fusion reactors. Accurate full-scale R2S calculations are impractical in fusion reactors because they require calculating space- and energy-dependent neutron fluxes everywhere inside the reactor. The use of global Monte Carlo variance reduction techniques was suggested for accelerating the R2S neutron transport calculation. However, the prohibitive computational costs of these approaches, which increase with the problem size and amount of shielding materials, inhibit their ability to accurately predict the SDDR in fusion energy systems using full-scale modeling of an entire fusion plant. This paper describes a novel hybrid Monte Carlo/deterministic methodology that uses the Consistent Adjoint Driven Importance Sampling (CADIS) method but focuses on multi-step shielding calculations. The Multi-Step CADIS (MS-CADIS) methodology speeds up the R2S neutron Monte Carlo calculation using an importance function that represents the neutron importance to the final SDDR. Using a simplified example, preliminary results showed that the use of MS-CADIS enhanced the efficiency of the neutron Monte Carlo simulation of an SDDR calculation by a factor of 550 compared to standard global variance reduction techniques, and that the efficiency enhancement compared to analog Monte Carlo is higher than a factor of 10,000

  5. The role of genetic variants in genes regulating the oxytocin-vasopressin neurohumoral system in childhood-onset aggression.

    Science.gov (United States)

    Malik, Ayesha I; Zai, Clement C; Berall, Laura; Abu, Zihad; Din, Farah; Nowrouzi, Behdin; Chen, Sheng; Beitchman, Joseph H

    2014-10-01

    The genetic etiology of aggressive behaviors remains elusive, but growing evidence suggests that they are heritable, and certain genetic variants have been implicated as contributing factors. The oxytocin-vasopressin (OXT-AVP) neurohumoral system has recently been implicated in social behaviors. Oxytocin, especially, has been linked to prosocial behaviors such as trust and social bonds. Hence, the aim of this study was to determine whether genes regulating this system were also associated with childhood-onset aggressive behaviors. Our sample included 182 White children showing extreme, persistent, and pervasive aggressive behavior. These cases were matched with 182 White controls on the basis of sex and age. We used PCR to determine the genotype for 28 single nucleotide polymorphisms within eight genes regulating the OXT-AVP system, including CD38 polymorphisms. Genotypic analyses were carried out using STATA, whereas differences in haplotypic and allelic frequencies were analyzed using Unphased. None of the results reached significance after correction for multiple testing. However, nominally significant allelic effects were observed for OXTR rs6770632T (P=0.028) and AVPR1A rs11174811G (P=0.040) in females, and OXTR rs237898A (P=0.006), rs237902C (P=0.007), and AVP rs3761249A (P=0.008) in males. Genetic variants regulating the OXT-AVP system may be associated with childhood-onset aggression.

  6. Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics.

    Science.gov (United States)

    Kuru, Kaya; Niranjan, Mahesan; Tunca, Yusuf; Osvank, Erhan; Azim, Tayyaba

    2014-10-01

    In general, medical geneticists aim to pre-diagnose underlying syndromes based on facial features before performing cytological or molecular analyses where a genotype-phenotype interrelation is possible. However, determining correct genotype-phenotype interrelationships among many syndromes is tedious and labor-intensive, especially for extremely rare syndromes. Thus, a computer-aided system for pre-diagnosis can facilitate effective and efficient decision support, particularly when few similar cases are available, or in remote rural districts where diagnostic knowledge of syndromes is not readily available. The proposed methodology, visual diagnostic decision support system (visual diagnostic DSS), employs machine learning (ML) algorithms and digital image processing techniques in a hybrid approach for automated diagnosis in medical genetics. This approach uses facial features in reference images of disorders to identify visual genotype-phenotype interrelationships. Our statistical method describes facial image data as principal component features and diagnoses syndromes using these features. The proposed system was trained using a real dataset of previously published face images of subjects with syndromes, which provided accurate diagnostic information. The method was tested using a leave-one-out cross-validation scheme with 15 different syndromes, each of comprised 5-9 cases, i.e., 92 cases in total. An accuracy rate of 83% was achieved using this automated diagnosis technique, which was statistically significant (pbenefits of using hybrid image processing and ML-based computer-aided diagnostics for identifying facial phenotypes. Copyright © 2014. Published by Elsevier B.V.

  7. The Collaborative Cross Resource for Systems Genetics Research of Infectious Diseases.

    Science.gov (United States)

    Maurizio, Paul L; Ferris, Martin T

    2017-01-01

    An increasing body of evidence highlights the role of host genetic variation in driving susceptibility to severe disease following pathogen infection. In order to fully appreciate the importance of host genetics on infection susceptibility and resulting disease, genetically variable experimental model systems should be employed. These systems allow for the identification, characterization, and mechanistic dissection of genetic variants that cause differential disease responses. Herein we discuss application of the Collaborative Cross (CC) panel of recombinant inbred strains to study viral pathogenesis, focusing on practical considerations for experimental design, assessment and analysis of disease responses within the CC, as well as some of the resources developed for the CC. Although the focus of this chapter is on viral pathogenesis, many of the methods presented within are applicable to studies of other pathogens, as well as to case-control designs in genetically diverse populations.

  8. Immune System and Genetics: A Different Approach to the Diversity of Antibodies

    International Nuclear Information System (INIS)

    Matta Camacho, Nubia Estela

    2011-01-01

    It is common to find in immunology or genetic books a chapter entitled immune system and genetics; this association focuses on how the generation of antibodies broke the paradigm one gene, one protein, since in this case one gene generates millions of proteins. However, the immune system has many more links to genetics and heredity. For example, any substance or compound that an organism produces is a potential antigen, when it is recognized as foreign by the immune system of another organism from the same or different species. The proteins that are potentially antigenic are encoded by the individual's genotype. The ability of the immune system to respond to antigenic proteins, as well as the type and intensity of that response, are also correlated with the organism's genotype. In addition, deficiencies in the immune response may be associated with mutations or genetic polymorphisms, which result in susceptibility to infection diseases.

  9. Optimization of Neuro-Fuzzy System Using Genetic Algorithm for Chromosome Classification

    Directory of Open Access Journals (Sweden)

    M. Sarosa

    2013-09-01

    Full Text Available Neuro-fuzzy system has been shown to provide a good performance on chromosome classification but does not offer a simple method to obtain the accurate parameter values required to yield the best recognition rate. This paper presents a neuro-fuzzy system where its parameters can be automatically adjusted using genetic algorithms. The approach combines the advantages of fuzzy logic theory, neural networks, and genetic algorithms. The structure consists of a four layer feed-forward neural network that uses a GBell membership function as the output function. The proposed methodology has been applied and tested on banded chromosome classification from the Copenhagen Chromosome Database. Simulation result showed that the proposed neuro-fuzzy system optimized by genetic algorithms offers advantages in setting the parameter values, improves the recognition rate significantly and decreases the training/testing time which makes genetic neuro-fuzzy system suitable for chromosome classification.

  10. Genetic Variation in the Dopamine System Influences Intervention Outcome in Children with Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Rochellys Diaz Heijtz

    2018-02-01

    Interpretation: Naturally occurring genetic variation in the dopamine system can influence treatment outcomes in children with cerebral palsy. A polygenic dopamine score might be valid for treatment outcome prediction and for designing individually tailored interventions for children with cerebral palsy.

  11. Comparison between genetic fuzzy system and neuro fuzzy system to select oil wells for hydraulic fracturing; Comparacao entre genetic fuzzy system e neuro fuzzy system para selecao de pocos de petroleo para fraturamento hidraulico

    Energy Technology Data Exchange (ETDEWEB)

    Castro, Antonio Orestes de Salvo [PETROBRAS, Rio de Janeiro, RJ (Brazil); Ferreira Filho, Virgilio Jose Martins [Universidade Federal do Rio de Janeiro (UFRJ), RJ (Brazil)

    2004-07-01

    The hydraulic fracture operation is wide used to increase the oil wells production and to reduce formation damage. Reservoir studies and engineer analysis are made to select the wells for this kind of operation. As the reservoir parameters have some diffuses characteristics, Fuzzy Inference Systems (SIF) have been tested for this selection processes in the last few years. This paper compares the performance of a neuro fuzzy system and a genetic fuzzy system used for hydraulic Fracture well selection, with knowledge acquisition from an operational data base to set the SIF membership functions. The training data and the validation data used were the same for both systems. We concluded that, in despite of the genetic fuzzy system would be a younger process, it got better results than the neuro fuzzy system. Another conclusion was that, as the genetic fuzzy system can work with constraints, the membership functions setting kept the consistency of variables linguistic values. (author)

  12. Quantitative Model for Economic Analyses of Information Security Investment in an Enterprise Information System

    Directory of Open Access Journals (Sweden)

    Bojanc Rok

    2012-11-01

    Full Text Available The paper presents a mathematical model for the optimal security-technology investment evaluation and decision-making processes based on the quantitative analysis of security risks and digital asset assessments in an enterprise. The model makes use of the quantitative analysis of different security measures that counteract individual risks by identifying the information system processes in an enterprise and the potential threats. The model comprises the target security levels for all identified business processes and the probability of a security accident together with the possible loss the enterprise may suffer. The selection of security technology is based on the efficiency of selected security measures. Economic metrics are applied for the efficiency assessment and comparative analysis of different protection technologies. Unlike the existing models for evaluation of the security investment, the proposed model allows direct comparison and quantitative assessment of different security measures. The model allows deep analyses and computations providing quantitative assessments of different options for investments, which translate into recommendations facilitating the selection of the best solution and the decision-making thereof. The model was tested using empirical examples with data from real business environment.

  13. Scoping analyses for the safety injection system configuration for Korean next generation reactor

    International Nuclear Information System (INIS)

    Bae, Kyoo Hwan; Song, Jin Ho; Park, Jong Kyoon

    1996-01-01

    Scoping analyses for the Safety Injection System (SIS) configuration for Korean Next Generation Reactor (KNGR) are performed in this study. The KNGR SIS consists of four mechanically separated hydraulic trains. Each hydraulic train consisting of a High Pressure Safety Injection (HPSI) pump and a Safety Injection Tank (SIT) is connected to the Direct Vessel Injection (DVI) nozzle located above the elevation of cold leg and thus injects water into the upper portion of reactor vessel annulus. Also, the KNGR is going to adopt the advanced design feature of passive fluidic device which will be installed in the discharge line of SIT to allow more effective use of borated water during the transient of large break LOCA. To determine the feasible configuration and capacity of SIT and HPSl pump with the elimination of the Low Pressure Safety Injection (LPSI) pump for KNGR, licensing design basis evaluations are performed for the limiting large break LOCA. The study shows that the DVI injection with the fluidic device SlT enhances the SIS performance by allowing more effective use of borated water for an extended period of time during the large break LOCA

  14. ACCIDENT ANALYSES & CONTROL OPTIONS IN SUPPORT OF THE SLUDGE WATER SYSTEM SAFETY ANALYSIS

    Energy Technology Data Exchange (ETDEWEB)

    WILLIAMS, J.C.

    2003-11-15

    This report documents the accident analyses and nuclear safety control options for use in Revision 7 of HNF-SD-WM-SAR-062, ''K Basins Safety Analysis Report'' and Revision 4 of HNF-SD-SNF-TSR-001, ''Technical Safety Requirements - 100 KE and 100 KW Fuel Storage Basins''. These documents will define the authorization basis for Sludge Water System (SWS) operations. This report follows the guidance of DOE-STD-3009-94, ''Preparation Guide for US. Department of Energy Nonreactor Nuclear Facility Safety Analysis Reports'', for calculating onsite and offsite consequences. The accident analysis summary is shown in Table ES-1 below. While this document describes and discusses potential control options to either mitigate or prevent the accidents discussed herein, it should be made clear that the final control selection for any accident is determined and presented in HNF-SD-WM-SAR-062.

  15. Comparative analyses of glycerotoxin expression unveil a novel structural organization of the bloodworm venom system.

    Science.gov (United States)

    Richter, Sandy; Helm, Conrad; Meunier, Frederic A; Hering, Lars; Campbell, Lahcen I; Drukewitz, Stephan H; Undheim, Eivind A B; Jenner, Ronald A; Schiavo, Giampietro; Bleidorn, Christoph

    2017-03-04

    We present the first molecular characterization of glycerotoxin (GLTx), a potent neurotoxin found in the venom of the bloodworm Glycera tridactyla (Glyceridae, Annelida). Within the animal kingdom, GLTx shows a unique mode of action as it can specifically up-regulate the activity of Ca v 2.2 channels (N-type) in a reversible manner. The lack of sequence information has so far hampered a detailed understanding of its mode of action. Our analyses reveal three ~3.8 kb GLTx full-length transcripts, show that GLTx represents a multigene family, and suggest it functions as a dimer. An integrative approach using transcriptomics, quantitative real-time PCR, in situ hybridization, and immunocytochemistry shows that GLTx is highly expressed exclusively in four pharyngeal lobes, a previously unrecognized part of the venom apparatus. Our results overturn a century old textbook view on the glycerid venom system, suggesting that it is anatomically and functionally much more complex than previously thought. The herein presented GLTx sequence information constitutes an important step towards the establishment of GLTx as a versatile tool to understand the mechanism of synaptic function, as well as the mode of action of this novel neurotoxin.

  16. The Opportunity Analyses of Using Thermosyphons in Cooling Systems of Power Transformers on Thermal Stations

    Directory of Open Access Journals (Sweden)

    Nurpeiis Аtlant

    2016-01-01

    Full Text Available The opportunity analyses of using the thermosyphons as the main elements in the systems of thermal regime supplying has been conducted under the conditions of their usage in power transformers on thermal stations. Mathematical modeling of jointly proceeding processes of conduction, forced convection and phase transitions (evaporation and condensation of coolant in the thermosyphon of rectangular cross section has been carried out. The problem of conjugated conductive-convective heat transfer was formulated in dimensionless variables “vorticity/stream function/temperature” and solved by finite difference method. The effect of the heat flux density supplied to the bottom cover of the thermosyphon from a transformer tank on the temperature drop in the steam channel was shown based on the analysis of numerical simulation results (temperature fields and velocities of steam. The parameters of energy-saturated equipment of thermal stations were found to be controlled by an intensification of heat removal from the top cover surface of the thermosyphon.

  17. Uncertainty analyses of the countermeasures module of the program system UFOMOD

    International Nuclear Information System (INIS)

    Fischer, F.; Ehrhardt, J.; Burkart, K.

    1989-10-01

    This report refers to uncertainty analyses of the countermeasures submodule of the program system UFOMOD, version NE 87/1, whose important input parameters are linked with probability distributions derived from expert judgement. Uncertainty bands show how much variability exists, sensitivity measures determine what causes this variability in consequences. Results are presented as confidence bands of complementary cumulative frequency distributions (CCFDs) of individual acute organ doses (lung, bone marrow), individual risks (pulmonary and hematopoietic syndrome) and the corresponding number of early fatalities, partially as a function of distance from the site. In addition the ranked influence of the uncertain parameters on the different consequence types is shown. For the estimation of confidence bands a model parameter sample size of n=60 equal to 3 times the number of uncertain model parameters is chosen. For a reduced set of nine model parameters a sample size of n=50 is selected. A total of 20 uncertain parameters is considered. The most sensitive parameters of the countermeasures submodule of UFOMOD appeared to be the initial delay of emergency actions in a keyhole shaped area A and the fractions of the population evacuating area A spontaneously during the sheltering period or staying outdoors. Under the conditions of the source term the influence on the overall uncertainty in the consequence variables - individual acute organ doses, individual risks and early fatalities - of driving times to leave the evacuation area is small. (orig./HP) [de

  18. Wind Power Forecasting Error Frequency Analyses for Operational Power System Studies: Preprint

    Energy Technology Data Exchange (ETDEWEB)

    Florita, A.; Hodge, B. M.; Milligan, M.

    2012-08-01

    The examination of wind power forecasting errors is crucial for optimal unit commitment and economic dispatch of power systems with significant wind power penetrations. This scheduling process includes both renewable and nonrenewable generators, and the incorporation of wind power forecasts will become increasingly important as wind fleets constitute a larger portion of generation portfolios. This research considers the Western Wind and Solar Integration Study database of wind power forecasts and numerical actualizations. This database comprises more than 30,000 locations spread over the western United States, with a total wind power capacity of 960 GW. Error analyses for individual sites and for specific balancing areas are performed using the database, quantifying the fit to theoretical distributions through goodness-of-fit metrics. Insights into wind-power forecasting error distributions are established for various levels of temporal and spatial resolution, contrasts made among the frequency distribution alternatives, and recommendations put forth for harnessing the results. Empirical data are used to produce more realistic site-level forecasts than previously employed, such that higher resolution operational studies are possible. This research feeds into a larger work of renewable integration through the links wind power forecasting has with various operational issues, such as stochastic unit commitment and flexible reserve level determination.

  19. Distinct signaling roles of ceramide species in yeast revealed through systematic perturbation and systems biology analyses.

    Science.gov (United States)

    Montefusco, David J; Chen, Lujia; Matmati, Nabil; Lu, Songjian; Newcomb, Benjamin; Cooper, Gregory F; Hannun, Yusuf A; Lu, Xinghua

    2013-10-29

    Ceramide, the central molecule of sphingolipid metabolism, is an important bioactive molecule that participates in various cellular regulatory events and that has been implicated in disease. Deciphering ceramide signaling is challenging because multiple ceramide species exist, and many of them may have distinct functions. We applied systems biology and molecular approaches to perturb ceramide metabolism in the yeast Saccharomyces cerevisiae and inferred causal relationships between ceramide species and their potential targets by combining lipidomic, genomic, and transcriptomic analyses. We found that during heat stress, distinct metabolic mechanisms controlled the abundance of different groups of ceramide species and provided experimental support for the importance of the dihydroceramidase Ydc1 in mediating the decrease in dihydroceramides during heat stress. Additionally, distinct groups of ceramide species, with different N-acyl chains and hydroxylations, regulated different sets of functionally related genes, indicating that the structural complexity of these lipids produces functional diversity. The transcriptional modules that we identified provide a resource to begin to dissect the specific functions of ceramides.

  20. Transient analyses for accelerator driven system PDS-XADS using the extended SIMMER-III code

    International Nuclear Information System (INIS)

    Suzuki, Tohru; Chen, Xue-Nong; Rineiski, Andrei; Maschek, Werner

    2005-01-01

    Transient analyses for Preliminary Design Studies of an Experimental Accelerator Driven System (PDS-XADS) were performed with the reactor safety analysis code SIMMER-III, which was originally developed for the safety assessment of sodium-cooled fast reactors and recently extended by the authors so as to describe the XADS specifics such as subcritical core, strong external neutron source and lead-bismuth-eutectic (LBE) coolant. As transient scenarios, the following cases were analyzed in accordance with the PDS-XADS program: spurious beam trip (BT), unprotected beam overpower (UBOP), unprotected transient overpower (UTOP), unprotected loss of flow (ULOF) and unprotected blockage (UBL) in a single fuel assembly. In addition, to cover some core-melt situations and investigate the potential for recriticalities, so-called snap-shot analyses with ad hoc postulated severe blockage conditions were also investigated. The simulation results for BT and UBOP showed that immediate fuel damage might not take place under short-time beam interruption or a 100% increase of the external neutron source. Concerning UTOP, it was found that a reactivity jump of 1 $ would not lead to damage of the fuel and the cladding. The ULOF simulation showed that the remaining natural convection of the coolant would prevent the cladding from disruptions. In the simulation of UBL in a single fuel assembly, it was shown that no cladding failure might be expected, due to the radial heat transfer and the coolant flow in the hexcan gap. Under an artificial suppression of the radial heat transfer for this UBL case, a pin failure occurred in the simulation but subsequent fuel sweep-out into the upper plenum region would bring a reactivity reduction and no power excursion. The severe accident simulations starting from postulated blockage above an already disrupted core showed that a severe recriticality could be avoided by the fuel sweep-out into the dummy-assembly or hexcan gap regions. The present

  1. [Genetic diversity and subdivision parameters of Colias crocea Fourc. and C. erate Esp. (Lepidoptera, Pieridae) in Crimea according to allozyme and RAPD-PCR analyses].

    Science.gov (United States)

    Milovanov, A E; Simchuk, A P

    2008-01-01

    Some parameters of genetic diversity and subdivision were tested in syntopic Crimean populations of two species of the sulfur butterllies, Colias crocea Fourc. and C. erate Esp. by allozyme and RAPD-PCR analyses. Genetic diversity in each of the species compared appeared to be approximately equal: the portion of polimorphic loci P95 (99) is 67% for C. crocea and is 61% for C. erate. Paratypic forms of both species do not differ from nominative ones by parameters of genetic diversity. The mean expected heterozygosities (H'(e)) in the C. crocea, C. erate and their paratypic forms by the RAPD-PCD data are 24.3 +/- 4.4%, 21.7 +/- 4.2%, 26.4 +/- 4.1%, respectively. The observed heterozygosities by the allozyme data in other samples are considerably less than theoretically expected ones (H(o) = 15.6 +/- 3.3%, H(e) = 50.5 +/- 4.5% for C. crocea; H(o) = 17.95 +/- 6.15%, H(e) = 50.8 +/- 8% for C. erate, and H(o) = 24.2 +/- 7.5%, H(e) = 50.9 +/- 8.7% for paratypic forms, respectively). The mean observed heterozygosity in the paratypic forms of C. erate (f. androconiata, f. chrysodona, f. edusoides) is almost two times higher than that of the f. chlorodona and f. eratoides. Paratypic forms of both species differ from nominative ones (particularly from that of C. crocea) by the level of intrapopulation inbreeding and by the degree of gene flow (F = 0.691 for C. crocea, 0.646 for C. erate, and 0.524 for paratypic forms). One can suppose a significant gene exchange among adjacent populations of C. crocea and C. erate (Wright's F(ST) = 0.155 for 6 allozyme and 18 RAPD loci, Nm = 1.363). Nei's similarity coefficients (S) varies from 0.7554 among nominative C. crocea and C. erate (D(N) = 0.28) to 0.8092 among C. crocea and paratypic forms (D = 0.21) and to 0.8936 among C. erate and paratypic forms of both species (D(N) = 0.11). Paratypic forms with rounded valve margin preliminarily identified as C. crocea revealed a considerable degree of similarity to the paratypic forms of C

  2. Comparative Genomic Analyses of Multiple Pseudomonas Strains Infecting Corylus avellana Trees Reveal the Occurrence of Two Genetic Clusters with Both Common and Distinctive Virulence and Fitness Traits

    Science.gov (United States)

    Marcelletti, Simone; Scortichini, Marco

    2015-01-01

    The European hazelnut (Corylus avellana) is threatened in Europe by several pseudomonads which cause symptoms ranging from twig dieback to tree death. A comparison of the draft genomes of nine Pseudomonas strains isolated from symptomatic C. avellana trees was performed to identify common and distinctive genomic traits. The thorough assessment of genetic relationships among the strains revealed two clearly distinct clusters: P. avellanae and P. syringae. The latter including the pathovars avellanae, coryli and syringae. Between these two clusters, no recombination event was found. A genomic island of approximately 20 kb, containing the hrp/hrc type III secretion system gene cluster, was found to be present without any genomic difference in all nine pseudomonads. The type III secretion system effector repertoires were remarkably different in the two groups, with P. avellanae showing a higher number of effectors. Homologue genes of the antimetabolite mangotoxin and ice nucleation activity clusters were found solely in all P. syringae pathovar strains, whereas the siderophore yersiniabactin was only present in P. avellanae. All nine strains have genes coding for pectic enzymes and sucrose metabolism. By contrast, they do not have genes coding for indolacetic acid and anti-insect toxin. Collectively, this study reveals that genomically different Pseudomonas can converge on the same host plant by suppressing the host defence mechanisms with the use of different virulence weapons. The integration into their genomes of a horizontally acquired genomic island could play a fundamental role in their evolution, perhaps giving them the ability to exploit new ecological niches. PMID:26147218

  3. Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse.

    Directory of Open Access Journals (Sweden)

    Michal Mrug

    Full Text Available We have previously mapped the interval on Chromosome 4 for a major polycystic kidney disease modifier (Mpkd of the B6(Cg-Cys1cpk/J mouse model of recessive polycystic kidney disease (PKD. Informatic analyses predicted that this interval contains at least three individual renal cystic disease severity-modulating loci (Mpkd1-3. In the current study, we provide further validation of these predicted effects using a congenic mouse line carrying the entire CAST/EiJ (CAST-derived Mpkd1-3 interval on the C57BL/6J background. We have also generated a derivative congenic line with a refined CAST-derived Mpkd1-2 interval and demonstrated its dominantly-acting disease-modulating effects (e.g., 4.2-fold increase in total cyst area; p<0.001. The relative strength of these effects allowed the use of recombinants from these crosses to fine map the Mpkd2 effects to a <14 Mbp interval that contains 92 RefSeq sequences. One of them corresponds to the previously described positional Mpkd2 candidate gene, Kif12. Among the positional Mpkd2 candidates, only expression of Kif12 correlates strongly with the expression pattern of Cys1 across multiple anatomical nephron structures and developmental time points. Also, we demonstrate that Kif12 encodes a primary cilium-associated protein. Together, these data provide genetic and informatic validation of the predicted renal cystic disease-modulating effects of Mpkd1-3 loci and implicate Kif12 as the candidate locus for Mpkd2.

  4. Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy

    Science.gov (United States)

    Douglas, Darlene S.; Popko, Brian

    2009-01-01

    Forward genetics, the phenotype-driven approach to investigating gene identity and function, has a long history in mouse genetics. Random mutations in the mouse transcend bias about gene function and provide avenues towards unique discoveries. The study of the peripheral nervous system is no exception; from historical strains such as the trembler mouse, which led to the identification of PMP22 as a human disease gene causing multiple forms of peripheral neuropathy, to the more recent identification of the claw paw and sprawling mutations, forward genetics has long been a tool for probing the physiology, pathogenesis, and genetics of the PNS. Even as spontaneous and mutagenized mice continue to enable the identification of novel genes, provide allelic series for detailed functional studies, and generate models