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Sample records for ld-spline mapping snps

  1. LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs

    Directory of Open Access Journals (Sweden)

    Cheng Yu-Huei

    2009-06-01

    Full Text Available Abstract Background Linkage disequilibrium (LD mapping is commonly used to evaluate markers for genome-wide association studies. Most types of LD software focus strictly on LD analysis and visualization, but lack supporting services for genotyping. Results We developed a freeware called LD2SNPing, which provides a complete package of mining tools for genotyping and LD analysis environments. The software provides SNP ID- and gene-centric online retrievals for SNP information and tag SNP selection from dbSNP/NCBI and HapMap, respectively. Restriction fragment length polymorphism (RFLP enzyme information for SNP genotype is available to all SNP IDs and tag SNPs. Single and multiple SNP inputs are possible in order to perform LD analysis by online retrieval from HapMap and NCBI. An LD statistics section provides D, D', r2, δQ, ρ, and the P values of the Hardy-Weinberg Equilibrium for each SNP marker, and Chi-square and likelihood-ratio tests for the pair-wise association of two SNPs in LD calculation. Finally, 2D and 3D plots, as well as plain-text output of the results, can be selected. Conclusion LD2SNPing thus provides a novel visualization environment for multiple SNP input, which facilitates SNP association studies. The software, user manual, and tutorial are freely available at http://bio.kuas.edu.tw/LD2NPing.

  2. DistiLD Database

    DEFF Research Database (Denmark)

    Palleja, Albert; Horn, Heiko; Eliasson, Sabrina

    2012-01-01

    Genome-wide association studies (GWAS) have identified thousands of single nucleotide polymorphisms (SNPs) associated with the risk of hundreds of diseases. However, there is currently no database that enables non-specialists to answer the following simple questions: which SNPs associated...... with diseases are in linkage disequilibrium (LD) with a gene of interest? Which chromosomal regions have been associated with a given disease, and which are the potentially causal genes in each region? To answer these questions, we use data from the HapMap Project to partition each chromosome into so-called LD...... blocks, so that SNPs in LD with each other are preferentially in the same block, whereas SNPs not in LD are in different blocks. By projecting SNPs and genes onto LD blocks, the DistiLD database aims to increase usage of existing GWAS results by making it easy to query and visualize disease...

  3. GLIDERS - A web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs

    Directory of Open Access Journals (Sweden)

    Broxholme John

    2009-10-01

    Full Text Available Abstract Background A number of tools for the examination of linkage disequilibrium (LD patterns between nearby alleles exist, but none are available for quickly and easily investigating LD at longer ranges (>500 kb. We have developed a web-based query tool (GLIDERS: Genome-wide LInkage DisEquilibrium Repository and Search engine that enables the retrieval of pairwise associations with r2 ≥ 0.3 across the human genome for any SNP genotyped within HapMap phase 2 and 3, regardless of distance between the markers. Description GLIDERS is an easy to use web tool that only requires the user to enter rs numbers of SNPs they want to retrieve genome-wide LD for (both nearby and long-range. The intuitive web interface handles both manual entry of SNP IDs as well as allowing users to upload files of SNP IDs. The user can limit the resulting inter SNP associations with easy to use menu options. These include MAF limit (5-45%, distance limits between SNPs (minimum and maximum, r2 (0.3 to 1, HapMap population sample (CEU, YRI and JPT+CHB combined and HapMap build/release. All resulting genome-wide inter-SNP associations are displayed on a single output page, which has a link to a downloadable tab delimited text file. Conclusion GLIDERS is a quick and easy way to retrieve genome-wide inter-SNP associations and to explore LD patterns for any number of SNPs of interest. GLIDERS can be useful in identifying SNPs with long-range LD. This can highlight mis-mapping or other potential association signal localisation problems.

  4. Linkage disequilibrium between STRPs and SNPs across the human genome.

    Science.gov (United States)

    Payseur, Bret A; Place, Michael; Weber, James L

    2008-05-01

    Patterns of linkage disequilibrium (LD) reveal the action of evolutionary processes and provide crucial information for association mapping of disease genes. Although recent studies have described the landscape of LD among single nucleotide polymorphisms (SNPs) from across the human genome, associations involving other classes of molecular variation remain poorly understood. In addition to recombination and population history, mutation rate and process are expected to shape LD. To test this idea, we measured associations between short-tandem-repeat polymorphisms (STRPs), which can mutate rapidly and recurrently, and SNPs in 721 regions across the human genome. We directly compared STRP-SNP LD with SNP-SNP LD from the same genomic regions in the human HapMap populations. The intensity of STRP-SNP LD, measured by the average of D', was reduced, consistent with the action of recurrent mutation. Nevertheless, a higher fraction of STRP-SNP pairs than SNP-SNP pairs showed significant LD, on both short (up to 50 kb) and long (cM) scales. These results reveal the substantial effects of mutational processes on LD at STRPs and provide important measures of the potential of STRPs for association mapping of disease genes.

  5. Linkage Disequilibrium between STRPs and SNPs across the Human Genome

    OpenAIRE

    Payseur, Bret A.; Place, Michael; Weber, James L.

    2008-01-01

    Patterns of linkage disequilibrium (LD) reveal the action of evolutionary processes and provide crucial information for association mapping of disease genes. Although recent studies have described the landscape of LD among single nucleotide polymorphisms (SNPs) from across the human genome, associations involving other classes of molecular variation remain poorly understood. In addition to recombination and population history, mutation rate and process are expected to shape LD. To test this i...

  6. BAC-end sequence-based SNPs and Bin mapping for rapid integration of physical and genetic maps in apple.

    Science.gov (United States)

    Han, Yuepeng; Chagné, David; Gasic, Ksenija; Rikkerink, Erik H A; Beever, Jonathan E; Gardiner, Susan E; Korban, Schuyler S

    2009-03-01

    A genome-wide BAC physical map of the apple, Malus x domestica Borkh., has been recently developed. Here, we report on integrating the physical and genetic maps of the apple using a SNP-based approach in conjunction with bin mapping. Briefly, BAC clones located at ends of BAC contigs were selected, and sequenced at both ends. The BAC end sequences (BESs) were used to identify candidate SNPs. Subsequently, these candidate SNPs were genetically mapped using a bin mapping strategy for the purpose of mapping the physical onto the genetic map. Using this approach, 52 (23%) out of 228 BESs tested were successfully exploited to develop SNPs. These SNPs anchored 51 contigs, spanning approximately 37 Mb in cumulative physical length, onto 14 linkage groups. The reliability of the integration of the physical and genetic maps using this SNP-based strategy is described, and the results confirm the feasibility of this approach to construct an integrated physical and genetic maps for apple.

  7. Mapping of PARK2 and PACRG overlapping regulatory region reveals LD structure and functional variants in association with leprosy in unrelated indian population groups.

    Science.gov (United States)

    Chopra, Rupali; Ali, Shafat; Srivastava, Amit K; Aggarwal, Shweta; Kumar, Bhupender; Manvati, Siddharth; Kalaiarasan, Ponnusamy; Jena, Mamta; Garg, Vijay K; Bhattacharya, Sambit N; Bamezai, Rameshwar N K

    2013-01-01

    Leprosy is a chronic infectious disease caused by Mycobacterium Leprae, where the host genetic background plays an important role toward the disease pathogenesis. Various studies have identified a number of human genes in association with leprosy or its clinical forms. However, non-replication of results has hinted at the heterogeneity among associations between different population groups, which could be due to differently evolved LD structures and differential frequencies of SNPs within the studied regions of the genome. A need for systematic and saturated mapping of the associated regions with the disease is warranted to unravel the observed heterogeneity in different populations. Mapping of the PARK2 and PACRG gene regulatory region with 96 SNPs, with a resolution of 1 SNP per 1 Kb for PARK2 gene regulatory region in a North Indian population, showed an involvement of 11 SNPs in determining the susceptibility towards leprosy. The association was replicated in a geographically distinct and unrelated population from Orissa in eastern India. In vitro reporter assays revealed that the two significantly associated SNPs, located 63.8 kb upstream of PARK2 gene and represented in a single BIN of 8 SNPs, influenced the gene expression. A comparison of BINs between Indian and Vietnamese populations revealed differences in the BIN structures, explaining the heterogeneity and also the reason for non-replication of the associated genomic region in different populations.

  8. From symplectic integrator to Poincare map: Spline expansion of a map generator in Cartesian coordinates

    International Nuclear Information System (INIS)

    Warnock, R.L.; Ellison, J.A.; Univ. of New Mexico, Albuquerque, NM

    1997-08-01

    Data from orbits of a symplectic integrator can be interpolated so as to construct an approximation to the generating function of a Poincare map. The time required to compute an orbit of the symplectic map induced by the generator can be much less than the time to follow the same orbit by symplectic integration. The construction has been carried out previously for full-turn maps of large particle accelerators, and a big saving in time (for instance a factor of 60) has been demonstrated. A shortcoming of the work to date arose from the use of canonical polar coordinates, which precluded map construction in small regions of phase space near coordinate singularities. This paper shows that Cartesian coordinates can also be used, thus avoiding singularities. The generator is represented in a basis of tensor product B-splines. Under weak conditions the spline expansion converges uniformly as the mesh is refined, approaching the exact generator of the Poincare map as defined by the symplectic integrator, in some parallelepiped of phase space centered at the origin

  9. SNPsnap: a Web-based tool for identification and annotation of matched SNPs

    DEFF Research Database (Denmark)

    Pers, Tune Hannes; Timshel, Pascal; Hirschhorn, Joel N.

    2015-01-01

    -localization of GWAS signals to gene-dense and high linkage disequilibrium (LD) regions, and correlations of gene size, location and function. The SNPsnap Web server enables SNP-based enrichment analysis by providing matched sets of SNPs that can be used to calibrate background expectations. Specifically, SNPsnap...... efficiently identifies sets of randomly drawn SNPs that are matched to a set of query SNPs based on allele frequency, number of SNPs in LD, distance to nearest gene and gene density. Availability and implementation : SNPsnap server is available at http://www.broadinstitute.org/mpg/snpsnap/. Contact: joelh...

  10. Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.

    Directory of Open Access Journals (Sweden)

    2006-05-01

    Full Text Available Improvements in technology have made it possible to conduct genome-wide association mapping at costs within reach of academic investigators, and experiments are currently being conducted with a variety of high-throughput platforms. To provide an appropriate context for interpreting results of such studies, we summarize here results of an investigation of one of the first of these technologies to be publicly available, the Affymetrix GeneChip Human Mapping 100K set of single nucleotide polymorphisms (SNPs. In a systematic analysis of the pattern and distribution of SNPs in the Mapping 100K set, we find that SNPs in this set are undersampled from coding regions (both nonsynonymous and synonymous and oversampled from regions outside genes, relative to SNPs in the overall HapMap database. In addition, we utilize a novel multilocus linkage disequilibrium (LD coefficient based on information content (analogous to the information content scores commonly used for linkage mapping that is equivalent to the familiar measure r2 in the special case of two loci. Using this approach, we are able to summarize for any subset of markers, such as the Affymetrix Mapping 100K set, the information available for association mapping in that subset, relative to the information available in the full set of markers included in the HapMap, and highlight circumstances in which this multilocus measure of LD provides substantial additional insight about the haplotype structure in a region over pairwise measures of LD.

  11. Semantic Modeling for SNPs Associated with Ethnic Disparities in HapMap Samples

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    HyoYoung Kim

    2014-03-01

    Full Text Available Single-nucleotide polymorphisms (SNPs have been emerging out of the efforts to research human diseases and ethnic disparities. A semantic network is needed for in-depth understanding of the impacts of SNPs, because phenotypes are modulated by complex networks, including biochemical and physiological pathways. We identified ethnicity-specific SNPs by eliminating overlapped SNPs from HapMap samples, and the ethnicity-specific SNPs were mapped to the UCSC RefGene lists. Ethnicity-specific genes were identified as follows: 22 genes in the USA (CEU individuals, 25 genes in the Japanese (JPT individuals, and 332 genes in the African (YRI individuals. To analyze the biologically functional implications for ethnicity-specific SNPs, we focused on constructing a semantic network model. Entities for the network represented by "Gene," "Pathway," "Disease," "Chemical," "Drug," "ClinicalTrials," "SNP," and relationships between entity-entity were obtained through curation. Our semantic modeling for ethnicity-specific SNPs showed interesting results in the three categories, including three diseases ("AIDS-associated nephropathy," "Hypertension," and "Pelvic infection", one drug ("Methylphenidate", and five pathways ("Hemostasis," "Systemic lupus erythematosus," "Prostate cancer," "Hepatitis C virus," and "Rheumatoid arthritis". We found ethnicity-specific genes using the semantic modeling, and the majority of our findings was consistent with the previous studies - that an understanding of genetic variability explained ethnicity-specific disparities.

  12. A Review of Story Mapping Instruction for Secondary Students with LD

    Science.gov (United States)

    Boon, Richard T.; Paal, Michael; Hintz, Anna-Maria; Cornelius-Freyre, Melissa

    2015-01-01

    The purpose of this article is to provide a review on the effectiveness of story mapping to improve the reading comprehension skills of middle and high school (Grades 6-12) students with learning disabilities (LD). An extensive review of the special education research-base revealed twelve (N = 12) story mapping intervention studies that met our…

  13. Comparing strategies for selection of low-density SNPs for imputation-mediated genomic prediction in U. S. Holsteins.

    Science.gov (United States)

    He, Jun; Xu, Jiaqi; Wu, Xiao-Lin; Bauck, Stewart; Lee, Jungjae; Morota, Gota; Kachman, Stephen D; Spangler, Matthew L

    2018-04-01

    SNP chips are commonly used for genotyping animals in genomic selection but strategies for selecting low-density (LD) SNPs for imputation-mediated genomic selection have not been addressed adequately. The main purpose of the present study was to compare the performance of eight LD (6K) SNP panels, each selected by a different strategy exploiting a combination of three major factors: evenly-spaced SNPs, increased minor allele frequencies, and SNP-trait associations either for single traits independently or for all the three traits jointly. The imputation accuracies from 6K to 80K SNP genotypes were between 96.2 and 98.2%. Genomic prediction accuracies obtained using imputed 80K genotypes were between 0.817 and 0.821 for daughter pregnancy rate, between 0.838 and 0.844 for fat yield, and between 0.850 and 0.863 for milk yield. The two SNP panels optimized on the three major factors had the highest genomic prediction accuracy (0.821-0.863), and these accuracies were very close to those obtained using observed 80K genotypes (0.825-0.868). Further exploration of the underlying relationships showed that genomic prediction accuracies did not respond linearly to imputation accuracies, but were significantly affected by genotype (imputation) errors of SNPs in association with the traits to be predicted. SNPs optimal for map coverage and MAF were favorable for obtaining accurate imputation of genotypes whereas trait-associated SNPs improved genomic prediction accuracies. Thus, optimal LD SNP panels were the ones that combined both strengths. The present results have practical implications on the design of LD SNP chips for imputation-enabled genomic prediction.

  14. An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population.

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    Alexandre Montpetit

    2006-03-01

    Full Text Available The Haplotype Map (HapMap project recently generated genotype data for more than 1 million single-nucleotide polymorphisms (SNPs in four population samples. The main application of the data is in the selection of tag single-nucleotide polymorphisms (tSNPs to use in association studies. The usefulness of this selection process needs to be verified in populations outside those used for the HapMap project. In addition, it is not known how well the data represent the general population, as only 90-120 chromosomes were used for each population and since the genotyped SNPs were selected so as to have high frequencies. In this study, we analyzed more than 1,000 individuals from Estonia. The population of this northern European country has been influenced by many different waves of migrations from Europe and Russia. We genotyped 1,536 randomly selected SNPs from two 500-kbp ENCODE regions on Chromosome 2. We observed that the tSNPs selected from the CEPH (Centre d'Etude du Polymorphisme Humain from Utah (CEU HapMap samples (derived from US residents with northern and western European ancestry captured most of the variation in the Estonia sample. (Between 90% and 95% of the SNPs with a minor allele frequency of more than 5% have an r2 of at least 0.8 with one of the CEU tSNPs. Using the reverse approach, tags selected from the Estonia sample could almost equally well describe the CEU sample. Finally, we observed that the sample size, the allelic frequency, and the SNP density in the dataset used to select the tags each have important effects on the tagging performance. Overall, our study supports the use of HapMap data in other Caucasian populations, but the SNP density and the bias towards high-frequency SNPs have to be taken into account when designing association studies.

  15. Combined visualization for noise mapping of industrial facilities based on ray-tracing and thin plate splines

    Science.gov (United States)

    Ovsiannikov, Mikhail; Ovsiannikov, Sergei

    2017-01-01

    The paper presents the combined approach to noise mapping and visualizing of industrial facilities sound pollution using forward ray tracing method and thin-plate spline interpolation. It is suggested to cauterize industrial area in separate zones with similar sound levels. Equivalent local source is defined for range computation of sanitary zones based on ray tracing algorithm. Computation of sound pressure levels within clustered zones are based on two-dimension spline interpolation of measured data on perimeter and inside the zone.

  16. Color management with a hammer: the B-spline fitter

    Science.gov (United States)

    Bell, Ian E.; Liu, Bonny H. P.

    2003-01-01

    To paraphrase Abraham Maslow: If the only tool you have is a hammer, every problem looks like a nail. We have a B-spline fitter customized for 3D color data, and many problems in color management can be solved with this tool. Whereas color devices were once modeled with extensive measurement, look-up tables and trilinear interpolation, recent improvements in hardware have made B-spline models an affordable alternative. Such device characterizations require fewer color measurements than piecewise linear models, and have uses beyond simple interpolation. A B-spline fitter, for example, can act as a filter to remove noise from measurements, leaving a model with guaranteed smoothness. Inversion of the device model can then be carried out consistently and efficiently, as the spline model is well behaved and its derivatives easily computed. Spline-based algorithms also exist for gamut mapping, the composition of maps, and the extrapolation of a gamut. Trilinear interpolation---a degree-one spline---can still be used after nonlinear spline smoothing for high-speed evaluation with robust convergence. Using data from several color devices, this paper examines the use of B-splines as a generic tool for modeling devices and mapping one gamut to another, and concludes with applications to high-dimensional and spectral data.

  17. Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays

    International Nuclear Information System (INIS)

    Apalasamy, Y.D.; Ming, M.F.; Rampal, S.; Bulgiba, A.; Mohamed, Z.

    2012-01-01

    The common variants in the fat mass- and obesity-associated (FTO) gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese) Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D' = 1.0). In addition, we detected the association of rs17817288 with low-density lipoprotein cholesterol. The FTO gene may therefore be involved in lipid metabolism in Malaysian Malays. Two haplotype blocks were present in this region of the FTO gene, but no particular haplotype was found to be significantly associated with an increased risk of obesity in Malaysian Malays

  18. Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays

    Energy Technology Data Exchange (ETDEWEB)

    Apalasamy, Y.D. [Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur (Malaysia); Ming, M.F.; Rampal, S.; Bulgiba, A. [Julius Centre University of Malaya, Department of Social and Preventive Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur (Malaysia); Mohamed, Z. [Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur (Malaysia)

    2012-08-24

    The common variants in the fat mass- and obesity-associated (FTO) gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs) and linkage disequilibrium (LD) blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese) Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D' = 1.0). In addition, we detected the association of rs17817288 with low-density lipoprotein cholesterol. The FTO gene may therefore be involved in lipid metabolism in Malaysian Malays. Two haplotype blocks were present in this region of the FTO gene, but no particular haplotype was found to be significantly associated with an increased risk of obesity in Malaysian Malays.

  19. Genetic association of SNPs in the FTO gene and predisposition to obesity in Malaysian Malays

    Directory of Open Access Journals (Sweden)

    Y.D. Apalasamy

    2012-12-01

    Full Text Available The common variants in the fat mass- and obesity-associated (FTO gene have been previously found to be associated with obesity in various adult populations. The objective of the present study was to investigate whether the single nucleotide polymorphisms (SNPs and linkage disequilibrium (LD blocks in various regions of the FTO gene are associated with predisposition to obesity in Malaysian Malays. Thirty-one FTO SNPs were genotyped in 587 (158 obese and 429 non-obese Malaysian Malay subjects. Obesity traits and lipid profiles were measured and single-marker association testing, LD testing, and haplotype association analysis were performed. LD analysis of the FTO SNPs revealed the presence of 57 regions with complete LD (D’ = 1.0. In addition, we detected the association of rs17817288 with low-density lipoprotein cholesterol. The FTO gene may therefore be involved in lipid metabolism in Malaysian Malays. Two haplotype blocks were present in this region of the FTO gene, but no particular haplotype was found to be significantly associated with an increased risk of obesity in Malaysian Malays.

  20. Full-turn symplectic map from a generator in a Fourier-spline basis

    International Nuclear Information System (INIS)

    Berg, J.S.; Warnock, R.L.; Ruth, R.D.; Forest, E.

    1993-04-01

    Given an arbitrary symplectic tracking code, one can construct a full-turn symplectic map that approximates the result of the code to high accuracy. The map is defined implicitly by a mixed-variable generating function. The implicit definition is no great drawback in practice, thanks to an efficient use of Newton's method to solve for the explicit map at each iteration. The generator is represented by a Fourier series in angle variables, with coefficients given as B-spline functions of action variables. It is constructed by using results of single-turn tracking from many initial conditions. The method has been appliedto a realistic model of the SSC in three degrees of freedom. Orbits can be mapped symplectically for 10 7 turns on an IBM RS6000 model 320 workstation, in a run of about one day

  1. Construction of High Density Sweet Cherry (Prunus avium L. Linkage Maps Using Microsatellite Markers and SNPs Detected by Genotyping-by-Sequencing (GBS.

    Directory of Open Access Journals (Sweden)

    Verónica Guajardo

    Full Text Available Linkage maps are valuable tools in genetic and genomic studies. For sweet cherry, linkage maps have been constructed using mainly microsatellite markers (SSRs and, recently, using single nucleotide polymorphism markers (SNPs from a cherry 6K SNP array. Genotyping-by-sequencing (GBS, a new methodology based on high-throughput sequencing, holds great promise for identification of high number of SNPs and construction of high density linkage maps. In this study, GBS was used to identify SNPs from an intra-specific sweet cherry cross. A total of 8,476 high quality SNPs were selected for mapping. The physical position for each SNP was determined using the peach genome, Peach v1.0, as reference, and a homogeneous distribution of markers along the eight peach scaffolds was obtained. On average, 65.6% of the SNPs were present in genic regions and 49.8% were located in exonic regions. In addition to the SNPs, a group of SSRs was also used for construction of linkage maps. Parental and consensus high density maps were constructed by genotyping 166 siblings from a 'Rainier' x 'Rivedel' (Ra x Ri cross. Using Ra x Ri population, 462, 489 and 985 markers were mapped into eight linkage groups in 'Rainier', 'Rivedel' and the Ra x Ri map, respectively, with 80% of mapped SNPs located in genic regions. Obtained maps spanned 549.5, 582.6 and 731.3 cM for 'Rainier', 'Rivedel' and consensus maps, respectively, with an average distance of 1.2 cM between adjacent markers for both 'Rainier' and 'Rivedel' maps and of 0.7 cM for Ra x Ri map. High synteny and co-linearity was observed between obtained maps and with Peach v1.0. These new high density linkage maps provide valuable information on the sweet cherry genome, and serve as the basis for identification of QTLs and genes relevant for the breeding of the species.

  2. A second generation human haplotype map of over 3.1 million SNPs.

    Science.gov (United States)

    Frazer, Kelly A; Ballinger, Dennis G; Cox, David R; Hinds, David A; Stuve, Laura L; Gibbs, Richard A; Belmont, John W; Boudreau, Andrew; Hardenbol, Paul; Leal, Suzanne M; Pasternak, Shiran; Wheeler, David A; Willis, Thomas D; Yu, Fuli; Yang, Huanming; Zeng, Changqing; Gao, Yang; Hu, Haoran; Hu, Weitao; Li, Chaohua; Lin, Wei; Liu, Siqi; Pan, Hao; Tang, Xiaoli; Wang, Jian; Wang, Wei; Yu, Jun; Zhang, Bo; Zhang, Qingrun; Zhao, Hongbin; Zhao, Hui; Zhou, Jun; Gabriel, Stacey B; Barry, Rachel; Blumenstiel, Brendan; Camargo, Amy; Defelice, Matthew; Faggart, Maura; Goyette, Mary; Gupta, Supriya; Moore, Jamie; Nguyen, Huy; Onofrio, Robert C; Parkin, Melissa; Roy, Jessica; Stahl, Erich; Winchester, Ellen; Ziaugra, Liuda; Altshuler, David; Shen, Yan; Yao, Zhijian; Huang, Wei; Chu, Xun; He, Yungang; Jin, Li; Liu, Yangfan; Shen, Yayun; Sun, Weiwei; Wang, Haifeng; Wang, Yi; Wang, Ying; Xiong, Xiaoyan; Xu, Liang; Waye, Mary M Y; Tsui, Stephen K W; Xue, Hong; Wong, J Tze-Fei; Galver, Luana M; Fan, Jian-Bing; Gunderson, Kevin; Murray, Sarah S; Oliphant, Arnold R; Chee, Mark S; Montpetit, Alexandre; Chagnon, Fanny; Ferretti, Vincent; Leboeuf, Martin; Olivier, Jean-François; Phillips, Michael S; Roumy, Stéphanie; Sallée, Clémentine; Verner, Andrei; Hudson, Thomas J; Kwok, Pui-Yan; Cai, Dongmei; Koboldt, Daniel C; Miller, Raymond D; Pawlikowska, Ludmila; Taillon-Miller, Patricia; Xiao, Ming; Tsui, Lap-Chee; Mak, William; Song, You Qiang; Tam, Paul K H; Nakamura, Yusuke; Kawaguchi, Takahisa; Kitamoto, Takuya; Morizono, Takashi; Nagashima, Atsushi; Ohnishi, Yozo; Sekine, Akihiro; Tanaka, Toshihiro; Tsunoda, Tatsuhiko; Deloukas, Panos; Bird, Christine P; Delgado, Marcos; Dermitzakis, Emmanouil T; Gwilliam, Rhian; Hunt, Sarah; Morrison, Jonathan; Powell, Don; Stranger, Barbara E; Whittaker, Pamela; Bentley, David R; Daly, Mark J; de Bakker, Paul I W; Barrett, Jeff; Chretien, Yves R; Maller, Julian; McCarroll, Steve; Patterson, Nick; Pe'er, Itsik; Price, Alkes; Purcell, Shaun; Richter, Daniel J; Sabeti, Pardis; Saxena, Richa; Schaffner, Stephen F; Sham, Pak C; Varilly, Patrick; Altshuler, David; Stein, Lincoln D; Krishnan, Lalitha; Smith, Albert Vernon; Tello-Ruiz, Marcela K; Thorisson, Gudmundur A; Chakravarti, Aravinda; Chen, Peter E; Cutler, David J; Kashuk, Carl S; Lin, Shin; Abecasis, Gonçalo R; Guan, Weihua; Li, Yun; Munro, Heather M; Qin, Zhaohui Steve; Thomas, Daryl J; McVean, Gilean; Auton, Adam; Bottolo, Leonardo; Cardin, Niall; Eyheramendy, Susana; Freeman, Colin; Marchini, Jonathan; Myers, Simon; Spencer, Chris; Stephens, Matthew; Donnelly, Peter; Cardon, Lon R; Clarke, Geraldine; Evans, David M; Morris, Andrew P; Weir, Bruce S; Tsunoda, Tatsuhiko; Mullikin, James C; Sherry, Stephen T; Feolo, Michael; Skol, Andrew; Zhang, Houcan; Zeng, Changqing; Zhao, Hui; Matsuda, Ichiro; Fukushima, Yoshimitsu; Macer, Darryl R; Suda, Eiko; Rotimi, Charles N; Adebamowo, Clement A; Ajayi, Ike; Aniagwu, Toyin; Marshall, Patricia A; Nkwodimmah, Chibuzor; Royal, Charmaine D M; Leppert, Mark F; Dixon, Missy; Peiffer, Andy; Qiu, Renzong; Kent, Alastair; Kato, Kazuto; Niikawa, Norio; Adewole, Isaac F; Knoppers, Bartha M; Foster, Morris W; Clayton, Ellen Wright; Watkin, Jessica; Gibbs, Richard A; Belmont, John W; Muzny, Donna; Nazareth, Lynne; Sodergren, Erica; Weinstock, George M; Wheeler, David A; Yakub, Imtaz; Gabriel, Stacey B; Onofrio, Robert C; Richter, Daniel J; Ziaugra, Liuda; Birren, Bruce W; Daly, Mark J; Altshuler, David; Wilson, Richard K; Fulton, Lucinda L; Rogers, Jane; Burton, John; Carter, Nigel P; Clee, Christopher M; Griffiths, Mark; Jones, Matthew C; McLay, Kirsten; Plumb, Robert W; Ross, Mark T; Sims, Sarah K; Willey, David L; Chen, Zhu; Han, Hua; Kang, Le; Godbout, Martin; Wallenburg, John C; L'Archevêque, Paul; Bellemare, Guy; Saeki, Koji; Wang, Hongguang; An, Daochang; Fu, Hongbo; Li, Qing; Wang, Zhen; Wang, Renwu; Holden, Arthur L; Brooks, Lisa D; McEwen, Jean E; Guyer, Mark S; Wang, Vivian Ota; Peterson, Jane L; Shi, Michael; Spiegel, Jack; Sung, Lawrence M; Zacharia, Lynn F; Collins, Francis S; Kennedy, Karen; Jamieson, Ruth; Stewart, John

    2007-10-18

    We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10-30% of pairs of individuals within a population share at least one region of extended genetic identity arising from recent ancestry and that up to 1% of all common variants are untaggable, primarily because they lie within recombination hotspots. We show that recombination rates vary systematically around genes and between genes of different function. Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations.

  3. Effective selection of informative SNPs and classification on the HapMap genotype data

    Directory of Open Access Journals (Sweden)

    Wang Lipo

    2007-12-01

    Full Text Available Abstract Background Since the single nucleotide polymorphisms (SNPs are genetic variations which determine the difference between any two unrelated individuals, the SNPs can be used to identify the correct source population of an individual. For efficient population identification with the HapMap genotype data, as few informative SNPs as possible are required from the original 4 million SNPs. Recently, Park et al. (2006 adopted the nearest shrunken centroid method to classify the three populations, i.e., Utah residents with ancestry from Northern and Western Europe (CEU, Yoruba in Ibadan, Nigeria in West Africa (YRI, and Han Chinese in Beijing together with Japanese in Tokyo (CHB+JPT, from which 100,736 SNPs were obtained and the top 82 SNPs could completely classify the three populations. Results In this paper, we propose to first rank each feature (SNP using a ranking measure, i.e., a modified t-test or F-statistics. Then from the ranking list, we form different feature subsets by sequentially choosing different numbers of features (e.g., 1, 2, 3, ..., 100. with top ranking values, train and test them by a classifier, e.g., the support vector machine (SVM, thereby finding one subset which has the highest classification accuracy. Compared to the classification method of Park et al., we obtain a better result, i.e., good classification of the 3 populations using on average 64 SNPs. Conclusion Experimental results show that the both of the modified t-test and F-statistics method are very effective in ranking SNPs about their classification capabilities. Combined with the SVM classifier, a desirable feature subset (with the minimum size and most informativeness can be quickly found in the greedy manner after ranking all SNPs. Our method is able to identify a very small number of important SNPs that can determine the populations of individuals.

  4. NeuroMap: A spline-based interactive open-source software for spatiotemporal mapping of 2D and 3D MEA data

    Directory of Open Access Journals (Sweden)

    Oussama eAbdoun

    2011-01-01

    Full Text Available A major characteristic of neural networks is the complexity of their organization at various spatial scales, from microscopic local circuits to macroscopic brain-scale areas. Understanding how neural information is processed thus entails the ability to study them at multiple scales simultaneously. This is made possible using microelectrodes array (MEA technology. Indeed, high-density MEAs provide large-scale covering (several mm² of whole neural structures combined with microscopic resolution (about 50µm of unit activity. Yet, current options for spatiotemporal representation of MEA-collected data remain limited. Here we present NeuroMap, a new interactive Matlab-based software for spatiotemporal mapping of MEA data. NeuroMap uses thin plate spline interpolation, which provides several assets with respect to conventional mapping methods used currently. First, any MEA design can be considered, including 2D or 3D, regular or irregular, arrangements of electrodes. Second, spline interpolation allows the estimation of activity across the tissue with local extrema not necessarily at recording sites. Finally, this interpolation approach provides a straightforward analytical estimation of the spatial Laplacian for better current sources localization. In this software, coregistration of 2D MEA data on the anatomy of the neural tissue is made possible by fine matching of anatomical data with electrode positions using rigid deformation based correction of anatomical pictures. Overall, NeuroMap provides substantial material for detailed spatiotemporal analysis of MEA data. The package is distributed under GNU General Public License (GPL and available at http://sites.google.com/site/neuromapsoftware.

  5. NeuroMap: A Spline-Based Interactive Open-Source Software for Spatiotemporal Mapping of 2D and 3D MEA Data.

    Science.gov (United States)

    Abdoun, Oussama; Joucla, Sébastien; Mazzocco, Claire; Yvert, Blaise

    2011-01-01

    A major characteristic of neural networks is the complexity of their organization at various spatial scales, from microscopic local circuits to macroscopic brain-scale areas. Understanding how neural information is processed thus entails the ability to study them at multiple scales simultaneously. This is made possible using microelectrodes array (MEA) technology. Indeed, high-density MEAs provide large-scale coverage (several square millimeters) of whole neural structures combined with microscopic resolution (about 50 μm) of unit activity. Yet, current options for spatiotemporal representation of MEA-collected data remain limited. Here we present NeuroMap, a new interactive Matlab-based software for spatiotemporal mapping of MEA data. NeuroMap uses thin plate spline interpolation, which provides several assets with respect to conventional mapping methods used currently. First, any MEA design can be considered, including 2D or 3D, regular or irregular, arrangements of electrodes. Second, spline interpolation allows the estimation of activity across the tissue with local extrema not necessarily at recording sites. Finally, this interpolation approach provides a straightforward analytical estimation of the spatial Laplacian for better current sources localization. In this software, coregistration of 2D MEA data on the anatomy of the neural tissue is made possible by fine matching of anatomical data with electrode positions using rigid-deformation-based correction of anatomical pictures. Overall, NeuroMap provides substantial material for detailed spatiotemporal analysis of MEA data. The package is distributed under GNU General Public License and available at http://sites.google.com/site/neuromapsoftware.

  6. Characterization of the linkage disequilibrium structure and identification of tagging-SNPs in five DNA repair genes

    International Nuclear Information System (INIS)

    Allen-Brady, Kristina; Camp, Nicola J

    2005-01-01

    Characterization of the linkage disequilibrium (LD) structure of candidate genes is the basis for an effective association study of complex diseases such as cancer. In this study, we report the LD and haplotype architecture and tagging-single nucleotide polymorphisms (tSNPs) for five DNA repair genes: ATM, MRE11A, XRCC4, NBS1 and RAD50. The genes ATM, MRE11A, and XRCC4 were characterized using a panel of 94 unrelated female subjects (47 breast cancer cases, 47 controls) obtained from high-risk breast cancer families. A similar LD structure and tSNP analysis was performed for NBS1 and RAD50, using publicly available genotyping data. We studied a total of 61 SNPs at an average marker density of 10 kb. Using a matrix decomposition algorithm, based on principal component analysis, we captured >90% of the intragenetic variation for each gene. Our results revealed that three of the five genes did not conform to a haplotype block structure (MRE11A, RAD50 and XRCC4). Instead, the data fit a more flexible LD group paradigm, where SNPs in high LD are not required to be contiguous. Traditional haplotype blocks assume recombination is the only dynamic at work. For ATM, MRE11A and XRCC4 we repeated the analysis in cases and controls separately to determine whether LD structure was consistent across breast cancer cases and controls. No substantial difference in LD structures was found. This study suggests that appropriate SNP selection for an association study involving candidate genes should allow for both mutation and recombination, which shape the population-level genomic structure. Furthermore, LD structure characterization in either breast cancer cases or controls appears to be sufficient for future cancer studies utilizing these genes

  7. LS-SNP/PDB: annotated non-synonymous SNPs mapped to Protein Data Bank structures.

    Science.gov (United States)

    Ryan, Michael; Diekhans, Mark; Lien, Stephanie; Liu, Yun; Karchin, Rachel

    2009-06-01

    LS-SNP/PDB is a new WWW resource for genome-wide annotation of human non-synonymous (amino acid changing) SNPs. It serves high-quality protein graphics rendered with UCSF Chimera molecular visualization software. The system is kept up-to-date by an automated, high-throughput build pipeline that systematically maps human nsSNPs onto Protein Data Bank structures and annotates several biologically relevant features. LS-SNP/PDB is available at (http://ls-snp.icm.jhu.edu/ls-snp-pdb) and via links from protein data bank (PDB) biology and chemistry tabs, UCSC Genome Browser Gene Details and SNP Details pages and PharmGKB Gene Variants Downloads/Cross-References pages.

  8. Genome-wide screen for universal individual identification SNPs based on the HapMap and 1000 Genomes databases.

    Science.gov (United States)

    Huang, Erwen; Liu, Changhui; Zheng, Jingjing; Han, Xiaolong; Du, Weian; Huang, Yuanjian; Li, Chengshi; Wang, Xiaoguang; Tong, Dayue; Ou, Xueling; Sun, Hongyu; Zeng, Zhaoshu; Liu, Chao

    2018-04-03

    Differences among SNP panels for individual identification in SNP-selecting and populations led to few common SNPs, compromising their universal applicability. To screen all universal SNPs, we performed a genome-wide SNP mining in multiple populations based on HapMap and 1000Genomes databases. SNPs with high minor allele frequencies (MAF) in 37 populations were selected. With MAF from ≥0.35 to ≥0.43, the number of selected SNPs decreased from 2769 to 0. A total of 117 SNPs with MAF ≥0.39 have no linkage disequilibrium with each other in every population. For 116 of the 117 SNPs, cumulative match probability (CMP) ranged from 2.01 × 10-48 to 1.93 × 10-50 and cumulative exclusion probability (CEP) ranged from 0.9999999996653 to 0.9999999999945. In 134 tested Han samples, 110 of the 117 SNPs remained within high MAF and conformed to Hardy-Weinberg equilibrium, with CMP = 4.70 × 10-47 and CEP = 0.999999999862. By analyzing the same number of autosomal SNPs as in the HID-Ion AmpliSeq Identity Panel, i.e. 90 randomized out of the 110 SNPs, our panel yielded preferable CMP and CEP. Taken together, the 110-SNPs panel is advantageous for forensic test, and this study provided plenty of highly informative SNPs for compiling final universal panels.

  9. A consensus linkage map of the grass carp (Ctenopharyngodon idella based on microsatellites and SNPs

    Directory of Open Access Journals (Sweden)

    Li Jiale

    2010-02-01

    Full Text Available Abstract Background Grass carp (Ctenopharyngodon idella belongs to the family Cyprinidae which includes more than 2000 fish species. It is one of the most important freshwater food fish species in world aquaculture. A linkage map is an essential framework for mapping traits of interest and is often the first step towards understanding genome evolution. The aim of this study is to construct a first generation genetic map of grass carp using microsatellites and SNPs to generate a new resource for mapping QTL for economically important traits and to conduct a comparative mapping analysis to shed new insights into the evolution of fish genomes. Results We constructed a first generation linkage map of grass carp with a mapping panel containing two F1 families including 192 progenies. Sixteen SNPs in genes and 263 microsatellite markers were mapped to twenty-four linkage groups (LGs. The number of LGs was corresponding to the haploid chromosome number of grass carp. The sex-specific map was 1149.4 and 888.8 cM long in females and males respectively whereas the sex-averaged map spanned 1176.1 cM. The average resolution of the map was 4.2 cM/locus. BLAST searches of sequences of mapped markers of grass carp against the whole genome sequence of zebrafish revealed substantial macrosynteny relationship and extensive colinearity of markers between grass carp and zebrafish. Conclusions The linkage map of grass carp presented here is the first linkage map of a food fish species based on co-dominant markers in the family Cyprinidae. This map provides a valuable resource for mapping phenotypic variations and serves as a reference to approach comparative genomics and understand the evolution of fish genomes and could be complementary to grass carp genome sequencing project.

  10. Spline-procedures

    International Nuclear Information System (INIS)

    Schmidt, R.

    1976-12-01

    This report contains a short introduction to spline functions as well as a complete description of the spline procedures presently available in the HMI-library. These include polynomial splines (using either B-splines or one-sided basis representations) and natural splines, as well as their application to interpolation, quasiinterpolation, L 2 -, and Tchebycheff approximation. Special procedures are included for the case of cubic splines. Complete test examples with input and output are provided for each of the procedures. (orig.) [de

  11. Deciphering the genomic architecture of the stickleback brain with a novel multilocus gene-mapping approach.

    Science.gov (United States)

    Li, Zitong; Guo, Baocheng; Yang, Jing; Herczeg, Gábor; Gonda, Abigél; Balázs, Gergely; Shikano, Takahito; Calboli, Federico C F; Merilä, Juha

    2017-03-01

    Quantitative traits important to organismal function and fitness, such as brain size, are presumably controlled by many small-effect loci. Deciphering the genetic architecture of such traits with traditional quantitative trait locus (QTL) mapping methods is challenging. Here, we investigated the genetic architecture of brain size (and the size of five different brain parts) in nine-spined sticklebacks (Pungitius pungitius) with the aid of novel multilocus QTL-mapping approaches based on a de-biased LASSO method. Apart from having more statistical power to detect QTL and reduced rate of false positives than conventional QTL-mapping approaches, the developed methods can handle large marker panels and provide estimates of genomic heritability. Single-locus analyses of an F 2 interpopulation cross with 239 individuals and 15 198, fully informative single nucleotide polymorphisms (SNPs) uncovered 79 QTL associated with variation in stickleback brain size traits. Many of these loci were in strong linkage disequilibrium (LD) with each other, and consequently, a multilocus mapping of individual SNPs, accounting for LD structure in the data, recovered only four significant QTL. However, a multilocus mapping of SNPs grouped by linkage group (LG) identified 14 LGs (1-6 depending on the trait) that influence variation in brain traits. For instance, 17.6% of the variation in relative brain size was explainable by cumulative effects of SNPs distributed over six LGs, whereas 42% of the variation was accounted for by all 21 LGs. Hence, the results suggest that variation in stickleback brain traits is influenced by many small-effect loci. Apart from suggesting moderately heritable (h 2  ≈ 0.15-0.42) multifactorial genetic architecture of brain traits, the results highlight the challenges in identifying the loci contributing to variation in quantitative traits. Nevertheless, the results demonstrate that the novel QTL-mapping approach developed here has distinctive advantages

  12. B-Spline potential function for maximum a-posteriori image reconstruction in fluorescence microscopy

    Directory of Open Access Journals (Sweden)

    Shilpa Dilipkumar

    2015-03-01

    Full Text Available An iterative image reconstruction technique employing B-Spline potential function in a Bayesian framework is proposed for fluorescence microscopy images. B-splines are piecewise polynomials with smooth transition, compact support and are the shortest polynomial splines. Incorporation of the B-spline potential function in the maximum-a-posteriori reconstruction technique resulted in improved contrast, enhanced resolution and substantial background reduction. The proposed technique is validated on simulated data as well as on the images acquired from fluorescence microscopes (widefield, confocal laser scanning fluorescence and super-resolution 4Pi microscopy. A comparative study of the proposed technique with the state-of-art maximum likelihood (ML and maximum-a-posteriori (MAP with quadratic potential function shows its superiority over the others. B-Spline MAP technique can find applications in several imaging modalities of fluorescence microscopy like selective plane illumination microscopy, localization microscopy and STED.

  13. Confirmation and Fine Mapping of a Major QTL for Aflatoxin Resistance in Maize Using a Combination of Linkage and Association Mapping

    Directory of Open Access Journals (Sweden)

    Yu Zhang

    2016-09-01

    Full Text Available Maize grain contamination with aflatoxin from Aspergillus flavus (A. flavus is a serious health hazard to animals and humans. To map the quantitative trait loci (QTLs associated with resistance to A. flavus, we employed a powerful approach that differs from previous methods in one important way: it combines the advantages of the genome-wide association analysis (GWAS and traditional linkage mapping analysis. Linkage mapping was performed using 228 recombinant inbred lines (RILs, and a highly significant QTL that affected aflatoxin accumulation, qAA8, was mapped. This QTL spanned approximately 7 centi-Morgan (cM on chromosome 8. The confidence interval was too large for positional cloning of the causal gene. To refine this QTL, GWAS was performed with 558,629 single nucleotide polymorphisms (SNPs in an association population comprising 437 maize inbred lines. Twenty-five significantly associated SNPs were identified, most of which co-localised with qAA8 and explained 6.7% to 26.8% of the phenotypic variation observed. Based on the rapid linkage disequilibrium (LD and the high density of SNPs in the association population, qAA8 was further localised to a smaller genomic region of approximately 1500 bp. A high-resolution map of the qAA8 region will be useful towards a marker-assisted selection (MAS of A. flavus resistance and a characterisation of the causal gene.

  14. Association mapping in forest trees and fruit crops.

    Science.gov (United States)

    Khan, M Awais; Korban, Schuyler S

    2012-06-01

    Association mapping (AM), also known as linkage disequilibrium (LD) mapping, is a viable approach to overcome limitations of pedigree-based quantitative trait loci (QTL) mapping. In AM, genotypic and phenotypic correlations are investigated in unrelated individuals. Unlike QTL mapping, AM takes advantage of both LD and historical recombination present within the gene pool of an organism, thus utilizing a broader reference population. In plants, AM has been used in model species with available genomic resources. Pursuing AM in tree species requires both genotyping and phenotyping of large populations with unique architectures. Recently, genome sequences and genomic resources for forest and fruit crops have become available. Due to abundance of single nucleotide polymorphisms (SNPs) within a genome, along with availability of high-throughput resequencing methods, SNPs can be effectively used for genotyping trees. In addition to DNA polymorphisms, copy number variations (CNVs) in the form of deletions, duplications, and insertions also play major roles in control of expression of phenotypic traits. Thus, CNVs could provide yet another valuable resource, beyond those of microsatellite and SNP variations, for pursuing genomic studies. As genome-wide SNP data are generated from high-throughput sequencing efforts, these could be readily reanalysed to identify CNVs, and subsequently used for AM studies. However, forest and fruit crops possess unique architectural and biological features that ought to be taken into consideration when collecting genotyping and phenotyping data, as these will also dictate which AM strategies should be pursued. These unique features as well as their impact on undertaking AM studies are outlined and discussed.

  15. Fine-Mapping Angiotensin-Converting Enzyme Gene: Separate QTLs Identified for Hypertension and for ACE Activity

    Science.gov (United States)

    Chung, Chia-Min; Wang, Ruey-Yun; Fann, Cathy S. J.; Chen, Jaw-Wen; Jong, Yuh-Shiun; Jou, Yuh-Shan; Yang, Hsin-Chou; Kang, Chih-Sen; Chen, Chien-Chung; Chang, Huan-Cheng; Pan, Wen-Harn

    2013-01-01

    Angiotensin-converting enzyme (ACE) has been implicated in multiple biological system, particularly cardiovascular diseases. However, findings associating ACE insertion/deletion polymorphism with hypertension or other related traits are inconsistent. Therefore, in a two-stage approach, we aimed to fine-map ACE in order to narrow-down the function-specific locations. We genotyped 31 single nucleotide polymorphisms (SNPs) of ACE from 1168 individuals from 305 young-onset (age ≤40) hypertension pedigrees, and found four linkage disequilibrium (LD) blocks. A tag-SNP, rs1800764 on LD block 2, upstream of and near the ACE promoter, was significantly associated with young-onset hypertension (p = 0.04). Tag-SNPs on all LD blocks were significantly associated with ACE activity (p-value: 10–16 to ACE activity were found between exon13 and intron18 and between intron 20 and 3′UTR, as revealed by measured haplotype analysis. These two major QTLs of ACE activity and the moderate effect variant upstream of ACE promoter for young-onset hypertension were replicated by another independent association study with 842 subjects. PMID:23469169

  16. Comparison of Antidepressant Efficacy-related SNPs Among Taiwanese and Four Populations in the HapMap Database

    Directory of Open Access Journals (Sweden)

    Mei-Hung Chi

    2011-07-01

    Full Text Available The genetic influence of single nucleotide polymorphisms (SNPs on antidepressant efficacy has been previously demonstrated. To evaluate whether there are ethnic differences, we compared the allele frequencies of antidepressant efficacy-related SNPs between the Taiwanese population and four other populations in the HapMap database. We recruited 198 Taiwanese major depression patients and 106 Taiwanese controls. A panel of possible relevant SNPs (in brain-derived neurotrophic factor, 5-hydroxytryptamine receptor 2A, interleukin 1 beta, and G-protein beta 3 subunit genes was selected for comparisons of allele frequencies using the χ2 test. Our results suggested no difference between Taiwanese patients and controls, but there were significant differences among Taiwanese controls and the other four ethnic groups in brain-derived neurotrophic factor, 5-hydroxytryptamine receptor 2A, interleukin 1 beta and G-protein beta 3 subunit genes. We conclude that there are ethnic differences in the allele frequencies of antidepressant efficacy-related SNPs, and that the degree of variations is consistent with geographic distances. Further investigation is required to verify the attribution of genetic differences to ethnic-specific antidepressant responses.

  17. 4D-PET reconstruction using a spline-residue model with spatial and temporal roughness penalties

    Science.gov (United States)

    Ralli, George P.; Chappell, Michael A.; McGowan, Daniel R.; Sharma, Ricky A.; Higgins, Geoff S.; Fenwick, John D.

    2018-05-01

    4D reconstruction of dynamic positron emission tomography (dPET) data can improve the signal-to-noise ratio in reconstructed image sequences by fitting smooth temporal functions to the voxel time-activity-curves (TACs) during the reconstruction, though the optimal choice of function remains an open question. We propose a spline-residue model, which describes TACs as weighted sums of convolutions of the arterial input function with cubic B-spline basis functions. Convolution with the input function constrains the spline-residue model at early time-points, potentially enhancing noise suppression in early time-frames, while still allowing a wide range of TAC descriptions over the entire imaged time-course, thus limiting bias. Spline-residue based 4D-reconstruction is compared to that of a conventional (non-4D) maximum a posteriori (MAP) algorithm, and to 4D-reconstructions based on adaptive-knot cubic B-splines, the spectral model and an irreversible two-tissue compartment (‘2C3K’) model. 4D reconstructions were carried out using a nested-MAP algorithm including spatial and temporal roughness penalties. The algorithms were tested using Monte-Carlo simulated scanner data, generated for a digital thoracic phantom with uptake kinetics based on a dynamic [18F]-Fluromisonidazole scan of a non-small cell lung cancer patient. For every algorithm, parametric maps were calculated by fitting each voxel TAC within a sub-region of the reconstructed images with the 2C3K model. Compared to conventional MAP reconstruction, spline-residue-based 4D reconstruction achieved  >50% improvements for five of the eight combinations of the four kinetics parameters for which parametric maps were created with the bias and noise measures used to analyse them, and produced better results for 5/8 combinations than any of the other reconstruction algorithms studied, while spectral model-based 4D reconstruction produced the best results for 2/8. 2C3K model-based 4D reconstruction generated

  18. The development of a high density linkage map for black tiger shrimp (Penaeus monodon based on cSNPs.

    Directory of Open Access Journals (Sweden)

    Matthew Baranski

    Full Text Available Transcriptome sequencing using Illumina RNA-seq was performed on populations of black tiger shrimp from India. Samples were collected from (i four landing centres around the east coastline (EC of India, (ii survivors of a severe WSSV infection during pond culture (SUR and (iii the Andaman Islands (AI in the Bay of Bengal. Equal quantities of purified total RNA from homogenates of hepatopancreas, muscle, nervous tissue, intestinal tract, heart, gonad, gills, pleopod and lymphoid organs were combined to create AI, EC and SUR pools for RNA sequencing. De novo transcriptome assembly resulted in 136,223 contigs (minimum size 100 base pairs, bp with a total length 61 Mb, an average length of 446 bp and an average coverage of 163× across all pools. Approximately 16% of contigs were annotated with BLAST hit information and gene ontology annotations. A total of 473,620 putative SNPs/indels were identified. An Illumina iSelect genotyping array containing 6,000 SNPs was developed and used to genotype 1024 offspring belonging to seven full-sibling families. A total of 3959 SNPs were mapped to 44 linkage groups. The linkage groups consisted of between 16-129 and 13-130 markers, of length between 139-10.8 and 109.1-10.5 cM and with intervals averaging between 1.2 and 0.9 cM for the female and male maps respectively. The female map was 28% longer than the male map (4060 and 2917 cM respectively with a 1.6 higher recombination rate observed for female compared to male meioses. This approach has substantially increased expressed sequence and DNA marker resources for tiger shrimp and is a useful resource for QTL mapping and association studies for evolutionarily and commercially important traits.

  19. SPLINE, Spline Interpolation Function

    International Nuclear Information System (INIS)

    Allouard, Y.

    1977-01-01

    1 - Nature of physical problem solved: The problem is to obtain an interpolated function, as smooth as possible, that passes through given points. The derivatives of these functions are continuous up to the (2Q-1) order. The program consists of the following two subprograms: ASPLERQ. Transport of relations method for the spline functions of interpolation. SPLQ. Spline interpolation. 2 - Method of solution: The methods are described in the reference under item 10

  20. Interpolating cubic splines

    CERN Document Server

    Knott, Gary D

    2000-01-01

    A spline is a thin flexible strip composed of a material such as bamboo or steel that can be bent to pass through or near given points in the plane, or in 3-space in a smooth manner. Mechanical engineers and drafting specialists find such (physical) splines useful in designing and in drawing plans for a wide variety of objects, such as for hulls of boats or for the bodies of automobiles where smooth curves need to be specified. These days, physi­ cal splines are largely replaced by computer software that can compute the desired curves (with appropriate encouragment). The same mathematical ideas used for computing "spline" curves can be extended to allow us to compute "spline" surfaces. The application ofthese mathematical ideas is rather widespread. Spline functions are central to computer graphics disciplines. Spline curves and surfaces are used in computer graphics renderings for both real and imagi­ nary objects. Computer-aided-design (CAD) systems depend on algorithms for computing spline func...

  1. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

    NARCIS (Netherlands)

    H. Darabi (Hatef); J. Beesley (Jonathan); A. Droit (Arnaud); S. Kar (Siddhartha); S. Nord (Silje); M.M. Marjaneh (Mahdi Moradi); Soucy, P. (Penny); K. Michailidou (Kyriaki); M. Ghoussaini (Maya); Wahl, H.F. (Hanna Fues); M.K. Bolla (Manjeet K.); Wang, Q. (Qin); J. Dennis (Joe); M.R. Alonso (Rosario); I.L. Andrulis (Irene); H. Anton-Culver (Hoda); Arndt, V. (Volker); M.W. Beckmann (Matthias); J. Benítez (Javier); N.V. Bogdanova (Natalia); S.E. Bojesen (Stig); H. Brauch (Hiltrud); H. Brenner (Hermann); A. Broeks (Annegien); T. Brüning (Thomas); B. Burwinkel (Barbara); J. Chang-Claude (Jenny); Choi, J.-Y. (Ji-Yeob); D. Conroy (Don); F.J. Couch (Fergus); A. Cox (Angela); S.S. Cross (Simon); K. Czene (Kamila); P. Devilee (Peter); T. Dörk (Thilo); D.F. Easton (Douglas F.); P.A. Fasching (Peter); J.D. Figueroa (Jonine); O. Fletcher (Olivia); H. Flyger (Henrik); Galle, E. (Eva); M. García-Closas (Montserrat); Giles, G.G. (Graham G.); M.S. Goldberg (Mark); A. González-Neira (Anna); P. Guénel (Pascal); C.A. Haiman (Christopher A.); Hallberg, E. (Emily); U. Hamann (Ute); J.M. Hartman (Joost); A. Hollestelle (Antoinette); J.L. Hopper (John); H. Ito (Hidemi); A. Jakubowska (Anna); Johnson, N. (Nichola); D. Kang (Daehee); S. Khan (Sofia); V-M. Kosma (Veli-Matti); Kriege, M. (Mieke); V. Kristensen (Vessela); Lambrechts, D. (Diether); L. Le Marchand (Loic); Lee, S.C. (Soo Chin); A. Lindblom (Annika); A. Lophatananon (Artitaya); J. Lubinski (Jan); A. Mannermaa (Arto); S. Manoukian (Siranoush); S. Margolin (Sara); K. Matsuo (Keitaro); Mayes, R. (Rebecca); McKay, J. (James); A. Meindl (Alfons); R.L. Milne (Roger); K.R. Muir (K.); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); C. Olswold (Curtis); Orr, N. (Nick); P. Peterlongo (Paolo); G. Pita (Guillermo); K. Pykäs (Katri); Rudolph, A. (Anja); Sangrajrang, S. (Suleeporn); Sawyer, E.J. (Elinor J.); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); C.M. Seynaeve (Caroline); Shah, M. (Mitul); C.-Y. Shen (Chen-Yang); X.-O. Shu (Xiao-Ou); M.C. Southey (Melissa); Stram, D.O. (Daniel O.); H. Surowy (Harald); A.J. Swerdlow (Anthony ); S.-H. Teo (Soo-Hwang); D.C. Tessier (Daniel C.); I.P. Tomlinson (Ian); D. Torres (Diana); T. Truong (Thérèse); C. Vachon (Celine); D. Vincent (Daniel); R. Winqvist (Robert); A.H. Wu (Anna); P.-E. Wu (Pei-Ei); C.H. Yip (Cheng Har); W. Zheng (Wei); P.D.P. Pharoah (Paul); P. Hall (Per); S.L. Edwards (Stacey); J. Simard (Jacques); J.D. French (Juliet); G. Chenevix-Trench (Georgia); A.M. Dunning (Alison)

    2016-01-01

    textabstractGenome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect

  2. Sequential and simultaneous SLAR block adjustment. [spline function analysis for mapping

    Science.gov (United States)

    Leberl, F.

    1975-01-01

    Two sequential methods of planimetric SLAR (Side Looking Airborne Radar) block adjustment, with and without splines, and three simultaneous methods based on the principles of least squares are evaluated. A limited experiment with simulated SLAR images indicates that sequential block formation with splines followed by external interpolative adjustment is superior to the simultaneous methods such as planimetric block adjustment with similarity transformations. The use of the sequential block formation is recommended, since it represents an inexpensive tool for satisfactory point determination from SLAR images.

  3. Spline and spline wavelet methods with applications to signal and image processing

    CERN Document Server

    Averbuch, Amir Z; Zheludev, Valery A

    This volume provides universal methodologies accompanied by Matlab software to manipulate numerous signal and image processing applications. It is done with discrete and polynomial periodic splines. Various contributions of splines to signal and image processing from a unified perspective are presented. This presentation is based on Zak transform and on Spline Harmonic Analysis (SHA) methodology. SHA combines approximation capabilities of splines with the computational efficiency of the Fast Fourier transform. SHA reduces the design of different spline types such as splines, spline wavelets (SW), wavelet frames (SWF) and wavelet packets (SWP) and their manipulations by simple operations. Digital filters, produced by wavelets design process, give birth to subdivision schemes. Subdivision schemes enable to perform fast explicit computation of splines' values at dyadic and triadic rational points. This is used for signals and images upsampling. In addition to the design of a diverse library of splines, SW, SWP a...

  4. Extent and distribution of linkage disequilibrium in the Old Order Amish.

    Science.gov (United States)

    Van Hout, Cristopher V; Levin, Albert M; Rampersaud, Evadnie; Shen, Haiqing; O'Connell, Jeffrey R; Mitchell, Braxton D; Shuldiner, Alan R; Douglas, Julie A

    2010-02-01

    Knowledge of the extent and distribution of linkage disequilibrium (LD) is critical to the design and interpretation of gene mapping studies. Because the demographic history of each population varies and is often not accurately known, it is necessary to empirically evaluate LD on a population-specific basis. Here we present the first genome-wide survey of LD in the Old Order Amish (OOA) of Lancaster County Pennsylvania, a closed population derived from a modest number of founders. Specifically, we present a comparison of LD between OOA individuals and US Utah participants in the International HapMap project (abbreviated CEU) using a high-density single nucleotide polymorphism (SNP) map. Overall, the allele (and haplotype) frequency distributions and LD profiles were remarkably similar between these two populations. For example, the median absolute allele frequency difference for autosomal SNPs was 0.05, with an inter-quartile range of 0.02-0.09, and for autosomal SNPs 10-20 kb apart with common alleles (minor allele frequency > or =0.05), the LD measure r(2) was at least 0.8 for 15 and 14% of SNP pairs in the OOA and CEU, respectively. Moreover, tag SNPs selected from the HapMap CEU sample captured a substantial portion of the common variation in the OOA ( approximately 88%) at r(2) > or =0.8. These results suggest that the OOA and CEU may share similar LD profiles for other common but untyped SNPs. Thus, in the context of the common variant-common disease hypothesis, genetic variants discovered in gene mapping studies in the OOA may generalize to other populations. 2009 Wiley-Liss, Inc.

  5. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

    OpenAIRE

    Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud; Kar, Siddhartha; Nord, Silje; Moradi Marjaneh, Mahdi; Soucy, Penny; Michailidou, Kyriaki; Ghoussaini, Maya; Fues Wahl, Hanna; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Alonso, M Rosario; Andrulis, Irene L.

    2016-01-01

    Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated co...

  6. Association of p21 SNPs and risk of cervical cancer among Chinese women

    International Nuclear Information System (INIS)

    Wang, Ning; Wang, Shizhuo; Zhang, Qiao; Lu, Yanming; Wei, Heng; Li, Wei; Zhang, Shulan; Yin, Duo; Ou, Yangling

    2012-01-01

    The p21 codon 31 single nucleotide polymorphism (SNP), rs1801270, has been linked to cervical cancer but with controversial results. The aims of this study were to investigate the role of p21 SNP-rs1801270 and other untested p21 SNPs in the risk of cervical cancer in a Chinese population. We genotyped five p21 SNPs (rs762623, rs2395655, rs1801270, rs3176352, and rs1059234) using peripheral blood DNA from 393 cervical cancer patients and 434 controls. The frequency of the rs1801270 A allele in patients (0.421) was significantly lower than that in controls (0.494, p = 0.003). The frequency of the rs3176352 C allele in cases (0.319) was significantly lower than that in controls (0.417, p < 0.001).The allele frequency of other three p21 SNPs showed not statistically significantly different between patients and controls. The rs1801270 AA genotype was associated with a decreased risk for the development of cervical cancer (OR = 0.583, 95%CI: 0.399 - 0.853, P = 0.005). We observed that the three p21 SNPs (rs1801270, rs3176352, and rs1059234) was in linkage disequilibrium (LD) and thus haplotype analysis was performed. The AGT haplotype (which includes the rs1801270A allele) was the most frequent haplotype among all subjects, and both homozygosity and heterozygosity for the AGT haplotype provided a protective effect from development of cervical cancer. We show an association between the p21 SNP rs1801270A allele and a decreased risk for cervical cancer in a population of Chinese women. The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided a protective effect in development of cervical cancer in this population

  7. Subpixel Snow Cover Mapping from MODIS Data by Nonparametric Regression Splines

    Science.gov (United States)

    Akyurek, Z.; Kuter, S.; Weber, G. W.

    2016-12-01

    Spatial extent of snow cover is often considered as one of the key parameters in climatological, hydrological and ecological modeling due to its energy storage, high reflectance in the visible and NIR regions of the electromagnetic spectrum, significant heat capacity and insulating properties. A significant challenge in snow mapping by remote sensing (RS) is the trade-off between the temporal and spatial resolution of satellite imageries. In order to tackle this issue, machine learning-based subpixel snow mapping methods, like Artificial Neural Networks (ANNs), from low or moderate resolution images have been proposed. Multivariate Adaptive Regression Splines (MARS) is a nonparametric regression tool that can build flexible models for high dimensional and complex nonlinear data. Although MARS is not often employed in RS, it has various successful implementations such as estimation of vertical total electron content in ionosphere, atmospheric correction and classification of satellite images. This study is the first attempt in RS to evaluate the applicability of MARS for subpixel snow cover mapping from MODIS data. Total 16 MODIS-Landsat ETM+ image pairs taken over European Alps between March 2000 and April 2003 were used in the study. MODIS top-of-atmospheric reflectance, NDSI, NDVI and land cover classes were used as predictor variables. Cloud-covered, cloud shadow, water and bad-quality pixels were excluded from further analysis by a spatial mask. MARS models were trained and validated by using reference fractional snow cover (FSC) maps generated from higher spatial resolution Landsat ETM+ binary snow cover maps. A multilayer feed-forward ANN with one hidden layer trained with backpropagation was also developed. The mutual comparison of obtained MARS and ANN models was accomplished on independent test areas. The MARS model performed better than the ANN model with an average RMSE of 0.1288 over the independent test areas; whereas the average RMSE of the ANN model

  8. Gamma Splines and Wavelets

    Directory of Open Access Journals (Sweden)

    Hannu Olkkonen

    2013-01-01

    Full Text Available In this work we introduce a new family of splines termed as gamma splines for continuous signal approximation and multiresolution analysis. The gamma splines are born by -times convolution of the exponential by itself. We study the properties of the discrete gamma splines in signal interpolation and approximation. We prove that the gamma splines obey the two-scale equation based on the polyphase decomposition. to introduce the shift invariant gamma spline wavelet transform for tree structured subscale analysis of asymmetric signal waveforms and for systems with asymmetric impulse response. Especially we consider the applications in biomedical signal analysis (EEG, ECG, and EMG. Finally, we discuss the suitability of the gamma spline signal processing in embedded VLSI environment.

  9. Improving the detection of pathways in genome-wide association studies by combined effects of SNPs from Linkage Disequilibrium blocks.

    Science.gov (United States)

    Zhao, Huiying; Nyholt, Dale R; Yang, Yuanhao; Wang, Jihua; Yang, Yuedong

    2017-06-14

    Genome-wide association studies (GWAS) have successfully identified single variants associated with diseases. To increase the power of GWAS, gene-based and pathway-based tests are commonly employed to detect more risk factors. However, the gene- and pathway-based association tests may be biased towards genes or pathways containing a large number of single-nucleotide polymorphisms (SNPs) with small P-values caused by high linkage disequilibrium (LD) correlations. To address such bias, numerous pathway-based methods have been developed. Here we propose a novel method, DGAT-path, to divide all SNPs assigned to genes in each pathway into LD blocks, and to sum the chi-square statistics of LD blocks for assessing the significance of the pathway by permutation tests. The method was proven robust with the type I error rate >1.6 times lower than other methods. Meanwhile, the method displays a higher power and is not biased by the pathway size. The applications to the GWAS summary statistics for schizophrenia and breast cancer indicate that the detected top pathways contain more genes close to associated SNPs than other methods. As a result, the method identified 17 and 12 significant pathways containing 20 and 21 novel associated genes, respectively for two diseases. The method is available online by http://sparks-lab.org/server/DGAT-path .

  10. Population differentiation in allele frequencies of obesity-associated SNPs.

    Science.gov (United States)

    Mao, Linyong; Fang, Yayin; Campbell, Michael; Southerland, William M

    2017-11-10

    Obesity is emerging as a global health problem, with more than one-third of the world's adult population being overweight or obese. In this study, we investigated worldwide population differentiation in allele frequencies of obesity-associated SNPs (single nucleotide polymorphisms). We collected a total of 225 obesity-associated SNPs from a public database. Their population-level allele frequencies were derived based on the genotype data from 1000 Genomes Project (phase 3). We used hypergeometric model to assess whether the effect allele at a given SNP is significantly enriched or depleted in each of the 26 populations surveyed in the 1000 Genomes Project with respect to the overall pooled population. Our results indicate that 195 out of 225 SNPs (86.7%) possess effect alleles significantly enriched or depleted in at least one of the 26 populations. Populations within the same continental group exhibit similar allele enrichment/depletion patterns whereas inter-continental populations show distinct patterns. Among the 225 SNPs, 15 SNPs cluster in the first intron region of the FTO gene, which is a major gene associated with body-mass index (BMI) and fat mass. African populations exhibit much smaller blocks of LD (linkage disequilibrium) among these15 SNPs while European and Asian populations have larger blocks. To estimate the cumulative effect of all variants associated with obesity, we developed the personal composite genetic risk score for obesity. Our results indicate that the East Asian populations have the lowest averages of the composite risk scores, whereas three European populations have the highest averages. In addition, the population-level average of composite genetic risk scores is significantly correlated (R 2 = 0.35, P = 0.0060) with obesity prevalence. We have detected substantial population differentiation in allele frequencies of obesity-associated SNPs. The results will help elucidate the genetic basis which may contribute to population

  11. Designing interactively with elastic splines

    DEFF Research Database (Denmark)

    Brander, David; Bærentzen, Jakob Andreas; Fisker, Ann-Sofie

    2018-01-01

    We present an algorithm for designing interactively with C1 elastic splines. The idea is to design the elastic spline using a C1 cubic polynomial spline where each polynomial segment is so close to satisfying the Euler-Lagrange equation for elastic curves that the visual difference becomes neglig...... negligible. Using a database of cubic Bézier curves we are able to interactively modify the cubic spline such that it remains visually close to an elastic spline....

  12. Spline techniques for magnetic fields

    International Nuclear Information System (INIS)

    Aspinall, J.G.

    1984-01-01

    This report is an overview of B-spline techniques, oriented toward magnetic field computation. These techniques form a powerful mathematical approximating method for many physics and engineering calculations. In section 1, the concept of a polynomial spline is introduced. Section 2 shows how a particular spline with well chosen properties, the B-spline, can be used to build any spline. In section 3, the description of how to solve a simple spline approximation problem is completed, and some practical examples of using splines are shown. All these sections deal exclusively in scalar functions of one variable for simplicity. Section 4 is partly digression. Techniques that are not B-spline techniques, but are closely related, are covered. These methods are not needed for what follows, until the last section on errors. Sections 5, 6, and 7 form a second group which work toward the final goal of using B-splines to approximate a magnetic field. Section 5 demonstrates how to approximate a scalar function of many variables. The necessary mathematics is completed in section 6, where the problems of approximating a vector function in general, and a magnetic field in particular, are examined. Finally some algorithms and data organization are shown in section 7. Section 8 deals with error analysis

  13. Genome wide linkage disequilibrium in Chinese asparagus bean (Vigna. unguiculata ssp. sesquipedialis) germplasm: implications for domestication history and genome wide association studies.

    Science.gov (United States)

    Xu, P; Wu, X; Wang, B; Luo, J; Liu, Y; Ehlers, J D; Close, T J; Roberts, P A; Lu, Z; Wang, S; Li, G

    2012-07-01

    Association mapping of important traits of crop plants relies on first understanding the extent and patterns of linkage disequilibrium (LD) in the particular germplasm being investigated. We characterize here the genetic diversity, population structure and genome wide LD patterns in a set of asparagus bean (Vigna. unguiculata ssp. sesquipedialis) germplasm from China. A diverse collection of 99 asparagus bean and normal cowpea accessions were genotyped with 1127 expressed sequence tag-derived single nucleotide polymorphism markers (SNPs). The proportion of polymorphic SNPs across the collection was relatively low (39%), with an average number of SNPs per locus of 1.33. Bayesian population structure analysis indicated two subdivisions within the collection sampled that generally represented the 'standard vegetable' type (subgroup SV) and the 'non-standard vegetable' type (subgroup NSV), respectively. Level of LD (r(2)) was higher and extent of LD persisted longer in subgroup SV than in subgroup NSV, whereas LD decayed rapidly (0-2 cM) in both subgroups. LD decay distance varied among chromosomes, with the longest (≈ 5 cM) five times longer than the shortest (≈ 1 cM). Partitioning of LD variance into within- and between-subgroup components coupled with comparative LD decay analysis suggested that linkage group 5, 7 and 10 may have undergone the most intensive epistatic selection toward traits favorable for vegetable use. This work provides a first population genetic insight into domestication history of asparagus bean and demonstrates the feasibility of mapping complex traits by genome wide association study in asparagus bean using a currently available cowpea SNPs marker platform.

  14. Assessing the value of phenotypic information from non-genotyped animals for QTL mapping of complex traits in real and simulated populations.

    Science.gov (United States)

    Melo, Thaise P; Takada, Luciana; Baldi, Fernando; Oliveira, Henrique N; Dias, Marina M; Neves, Haroldo H R; Schenkel, Flavio S; Albuquerque, Lucia G; Carvalheiro, Roberto

    2016-06-21

    QTL mapping through genome-wide association studies (GWAS) is challenging, especially in the case of low heritability complex traits and when few animals possess genotypic and phenotypic information. When most of the phenotypic information is from non-genotyped animals, GWAS can be performed using the weighted single-step GBLUP (WssGBLUP) method, which permits to combine all available information, even that of non-genotyped animals. However, it is not clear to what extent phenotypic information from non-genotyped animals increases the power of QTL detection, and whether factors such as the extent of linkage disequilibrium (LD) in the population and weighting SNPs in WssGBLUP affect the importance of using information from non-genotyped animals in GWAS. These questions were investigated in this study using real and simulated data. Analysis of real data showed that the use of phenotypes of non-genotyped animals affected SNP effect estimates and, consequently, QTL mapping. Despite some coincidence, the most important genomic regions identified by the analyses, either using or ignoring phenotypes of non-genotyped animals, were not the same. The simulation results indicated that the inclusion of all available phenotypic information, even that of non-genotyped animals, tends to improve QTL detection for low heritability complex traits. For populations with low levels of LD, this trend of improvement was less pronounced. Stronger shrinkage on SNPs explaining lower variance was not necessarily associated with better QTL mapping. The use of phenotypic information from non-genotyped animals in GWAS may improve the ability to detect QTL for low heritability complex traits, especially in populations in which the level of LD is high.

  15. Digital elevation model production from scanned topographic contour maps via thin plate spline interpolation

    International Nuclear Information System (INIS)

    Soycan, Arzu; Soycan, Metin

    2009-01-01

    GIS (Geographical Information System) is one of the most striking innovation for mapping applications supplied by the developing computer and software technology to users. GIS is a very effective tool which can show visually combination of the geographical and non-geographical data by recording these to allow interpretations and analysis. DEM (Digital Elevation Model) is an inalienable component of the GIS. The existing TM (Topographic Map) can be used as the main data source for generating DEM by amanual digitizing or vectorization process for the contours polylines. The aim of this study is to examine the DEM accuracies, which were obtained by TMs, as depending on the number of sampling points and grid size. For these purposes, the contours of the several 1/1000 scaled scanned topographical maps were vectorized. The different DEMs of relevant area have been created by using several datasets with different numbers of sampling points. We focused on the DEM creation from contour lines using gridding with RBF (Radial Basis Function) interpolation techniques, namely TPS as the surface fitting model. The solution algorithm and a short review of the mathematical model of TPS (Thin Plate Spline) interpolation techniques are given. In the test study, results of the application and the obtained accuracies are drawn and discussed. The initial object of this research is to discuss the requirement of DEM in GIS, urban planning, surveying engineering and the other applications with high accuracy (a few deci meters). (author)

  16. Spline approximation, Part 1: Basic methodology

    Science.gov (United States)

    Ezhov, Nikolaj; Neitzel, Frank; Petrovic, Svetozar

    2018-04-01

    In engineering geodesy point clouds derived from terrestrial laser scanning or from photogrammetric approaches are almost never used as final results. For further processing and analysis a curve or surface approximation with a continuous mathematical function is required. In this paper the approximation of 2D curves by means of splines is treated. Splines offer quite flexible and elegant solutions for interpolation or approximation of "irregularly" distributed data. Depending on the problem they can be expressed as a function or as a set of equations that depend on some parameter. Many different types of splines can be used for spline approximation and all of them have certain advantages and disadvantages depending on the approximation problem. In a series of three articles spline approximation is presented from a geodetic point of view. In this paper (Part 1) the basic methodology of spline approximation is demonstrated using splines constructed from ordinary polynomials and splines constructed from truncated polynomials. In the forthcoming Part 2 the notion of B-spline will be explained in a unique way, namely by using the concept of convex combinations. The numerical stability of all spline approximation approaches as well as the utilization of splines for deformation detection will be investigated on numerical examples in Part 3.

  17. Spline Interpolation of Image

    OpenAIRE

    I. Kuba; J. Zavacky; J. Mihalik

    1995-01-01

    This paper presents the use of B spline functions in various digital signal processing applications. The theory of one-dimensional B spline interpolation is briefly reviewed, followed by its extending to two dimensions. After presenting of one and two dimensional spline interpolation, the algorithms of image interpolation and resolution increasing were proposed. Finally, experimental results of computer simulations are presented.

  18. APLIKASI SPLINE ESTIMATOR TERBOBOT

    Directory of Open Access Journals (Sweden)

    I Nyoman Budiantara

    2001-01-01

    Full Text Available We considered the nonparametric regression model : Zj = X(tj + ej, j = 1,2,…,n, where X(tj is the regression curve. The random error ej are independently distributed normal with a zero mean and a variance s2/bj, bj > 0. The estimation of X obtained by minimizing a Weighted Least Square. The solution of this optimation is a Weighted Spline Polynomial. Further, we give an application of weigted spline estimator in nonparametric regression. Abstract in Bahasa Indonesia : Diberikan model regresi nonparametrik : Zj = X(tj + ej, j = 1,2,…,n, dengan X (tj kurva regresi dan ej sesatan random yang diasumsikan berdistribusi normal dengan mean nol dan variansi s2/bj, bj > 0. Estimasi kurva regresi X yang meminimumkan suatu Penalized Least Square Terbobot, merupakan estimator Polinomial Spline Natural Terbobot. Selanjutnya diberikan suatu aplikasi estimator spline terbobot dalam regresi nonparametrik. Kata kunci: Spline terbobot, Regresi nonparametrik, Penalized Least Square.

  19. Isogeometric analysis using T-splines

    KAUST Repository

    Bazilevs, Yuri

    2010-01-01

    We explore T-splines, a generalization of NURBS enabling local refinement, as a basis for isogeometric analysis. We review T-splines as a surface design methodology and then develop it for engineering analysis applications. We test T-splines on some elementary two-dimensional and three-dimensional fluid and structural analysis problems and attain good results in all cases. We summarize the current status of T-splines, their limitations, and future possibilities. © 2009 Elsevier B.V.

  20. ICSNPathway: identify candidate causal SNPs and pathways from genome-wide association study by one analytical framework.

    Science.gov (United States)

    Zhang, Kunlin; Chang, Suhua; Cui, Sijia; Guo, Liyuan; Zhang, Liuyan; Wang, Jing

    2011-07-01

    Genome-wide association study (GWAS) is widely utilized to identify genes involved in human complex disease or some other trait. One key challenge for GWAS data interpretation is to identify causal SNPs and provide profound evidence on how they affect the trait. Currently, researches are focusing on identification of candidate causal variants from the most significant SNPs of GWAS, while there is lack of support on biological mechanisms as represented by pathways. Although pathway-based analysis (PBA) has been designed to identify disease-related pathways by analyzing the full list of SNPs from GWAS, it does not emphasize on interpreting causal SNPs. To our knowledge, so far there is no web server available to solve the challenge for GWAS data interpretation within one analytical framework. ICSNPathway is developed to identify candidate causal SNPs and their corresponding candidate causal pathways from GWAS by integrating linkage disequilibrium (LD) analysis, functional SNP annotation and PBA. ICSNPathway provides a feasible solution to bridge the gap between GWAS and disease mechanism study by generating hypothesis of SNP → gene → pathway(s). The ICSNPathway server is freely available at http://icsnpathway.psych.ac.cn/.

  1. Hilbertian kernels and spline functions

    CERN Document Server

    Atteia, M

    1992-01-01

    In this monograph, which is an extensive study of Hilbertian approximation, the emphasis is placed on spline functions theory. The origin of the book was an effort to show that spline theory parallels Hilbertian Kernel theory, not only for splines derived from minimization of a quadratic functional but more generally for splines considered as piecewise functions type. Being as far as possible self-contained, the book may be used as a reference, with information about developments in linear approximation, convex optimization, mechanics and partial differential equations.

  2. Symmetric, discrete fractional splines and Gabor systems

    DEFF Research Database (Denmark)

    Søndergaard, Peter Lempel

    2006-01-01

    In this paper we consider fractional splines as windows for Gabor frames. We introduce two new types of symmetric, fractional splines in addition to one found by Unser and Blu. For the finite, discrete case we present two families of splines: One is created by sampling and periodizing the continu......In this paper we consider fractional splines as windows for Gabor frames. We introduce two new types of symmetric, fractional splines in addition to one found by Unser and Blu. For the finite, discrete case we present two families of splines: One is created by sampling and periodizing...... the continuous splines, and one is a truly finite, discrete construction. We discuss the properties of these splines and their usefulness as windows for Gabor frames and Wilson bases....

  3. Smoothing data series by means of cubic splines: quality of approximation and introduction of a repeating spline approach

    Science.gov (United States)

    Wüst, Sabine; Wendt, Verena; Linz, Ricarda; Bittner, Michael

    2017-09-01

    Cubic splines with equidistant spline sampling points are a common method in atmospheric science, used for the approximation of background conditions by means of filtering superimposed fluctuations from a data series. What is defined as background or superimposed fluctuation depends on the specific research question. The latter also determines whether the spline or the residuals - the subtraction of the spline from the original time series - are further analysed.Based on test data sets, we show that the quality of approximation of the background state does not increase continuously with an increasing number of spline sampling points and/or decreasing distance between two spline sampling points. Splines can generate considerable artificial oscillations in the background and the residuals.We introduce a repeating spline approach which is able to significantly reduce this phenomenon. We apply it not only to the test data but also to TIMED-SABER temperature data and choose the distance between two spline sampling points in a way that is sensitive for a large spectrum of gravity waves.

  4. Fine-mapping and initial characterization of QT interval loci in African Americans.

    Directory of Open Access Journals (Sweden)

    Christy L Avery

    Full Text Available The QT interval (QT is heritable and its prolongation is a risk factor for ventricular tachyarrhythmias and sudden death. Most genetic studies of QT have examined European ancestral populations; however, the increased genetic diversity in African Americans provides opportunities to narrow association signals and identify population-specific variants. We therefore evaluated 6,670 SNPs spanning eleven previously identified QT loci in 8,644 African American participants from two Population Architecture using Genomics and Epidemiology (PAGE studies: the Atherosclerosis Risk in Communities study and Women's Health Initiative Clinical Trial. Of the fifteen known independent QT variants at the eleven previously identified loci, six were significantly associated with QT in African American populations (P≤1.20×10(-4: ATP1B1, PLN1, KCNQ1, NDRG4, and two NOS1AP independent signals. We also identified three population-specific signals significantly associated with QT in African Americans (P≤1.37×10(-5: one at NOS1AP and two at ATP1B1. Linkage disequilibrium (LD patterns in African Americans assisted in narrowing the region likely to contain the functional variants for several loci. For example, African American LD patterns showed that 0 SNPs were in LD with NOS1AP signal rs12143842, compared with European LD patterns that indicated 87 SNPs, which spanned 114.2 Kb, were in LD with rs12143842. Finally, bioinformatic-based characterization of the nine African American signals pointed to functional candidates located exclusively within non-coding regions, including predicted binding sites for transcription factors such as TBX5, which has been implicated in cardiac structure and conductance. In this detailed evaluation of QT loci, we identified several African Americans SNPs that better define the association with QT and successfully narrowed intervals surrounding established loci. These results demonstrate that the same loci influence variation in QT

  5. Validation of contour-driven thin-plate splines for tracking fraction-to-fraction changes in anatomy and radiation therapy dose mapping

    International Nuclear Information System (INIS)

    Schaly, B; Bauman, G S; Battista, J J; Dyk, J Van

    2005-01-01

    The goal of this study is to validate a deformable model using contour-driven thin-plate splines for application to radiation therapy dose mapping. Our testing includes a virtual spherical phantom as well as real computed tomography (CT) data from ten prostate cancer patients with radio-opaque markers surgically implanted into the prostate and seminal vesicles. In the spherical mathematical phantom, homologous control points generated automatically given input contour data in CT slice geometry were compared to homologous control point placement using analytical geometry as the ground truth. The dose delivered to specific voxels driven by both sets of homologous control points were compared to determine the accuracy of dose tracking via the deformable model. A 3D analytical spherically symmetric dose distribution with a dose gradient of ∼10% per mm was used for this phantom. This test showed that the uncertainty in calculating the delivered dose to a tissue element depends on slice thickness and the variation in defining homologous landmarks, where dose agreement of 3-4% in high dose gradient regions was achieved. In the patient data, radio-opaque marker positions driven by the thin-plate spline algorithm were compared to the actual marker positions as identified in the CT scans. It is demonstrated that the deformable model is accurate (∼2.5 mm) to within the intra-observer contouring variability. This work shows that the algorithm is appropriate for describing changes in pelvic anatomy and for the dose mapping application with dose gradients characteristic of conformal and intensity modulated radiation therapy

  6. Validation of contour-driven thin-plate splines for tracking fraction-to-fraction changes in anatomy and radiation therapy dose mapping.

    Science.gov (United States)

    Schaly, B; Bauman, G S; Battista, J J; Van Dyk, J

    2005-02-07

    The goal of this study is to validate a deformable model using contour-driven thin-plate splines for application to radiation therapy dose mapping. Our testing includes a virtual spherical phantom as well as real computed tomography (CT) data from ten prostate cancer patients with radio-opaque markers surgically implanted into the prostate and seminal vesicles. In the spherical mathematical phantom, homologous control points generated automatically given input contour data in CT slice geometry were compared to homologous control point placement using analytical geometry as the ground truth. The dose delivered to specific voxels driven by both sets of homologous control points were compared to determine the accuracy of dose tracking via the deformable model. A 3D analytical spherically symmetric dose distribution with a dose gradient of approximately 10% per mm was used for this phantom. This test showed that the uncertainty in calculating the delivered dose to a tissue element depends on slice thickness and the variation in defining homologous landmarks, where dose agreement of 3-4% in high dose gradient regions was achieved. In the patient data, radio-opaque marker positions driven by the thin-plate spline algorithm were compared to the actual marker positions as identified in the CT scans. It is demonstrated that the deformable model is accurate (approximately 2.5 mm) to within the intra-observer contouring variability. This work shows that the algorithm is appropriate for describing changes in pelvic anatomy and for the dose mapping application with dose gradients characteristic of conformal and intensity modulated radiation therapy.

  7. Development and bin mapping of gene-associated interspecific SNPs for cotton (Gossypium hirsutum L.) introgression breeding efforts.

    Science.gov (United States)

    Hulse-Kemp, Amanda M; Ashrafi, Hamid; Zheng, Xiuting; Wang, Fei; Hoegenauer, Kevin A; Maeda, Andrea B V; Yang, S Samuel; Stoffel, Kevin; Matvienko, Marta; Clemons, Kimberly; Udall, Joshua A; Van Deynze, Allen; Jones, Don C; Stelly, David M

    2014-10-30

    Cotton (Gossypium spp.) is the largest producer of natural fibers for textile and is an important crop worldwide. Crop production is comprised primarily of G. hirsutum L., an allotetraploid. However, elite cultivars express very small amounts of variation due to the species monophyletic origin, domestication and further bottlenecks due to selection. Conversely, wild cotton species harbor extensive genetic diversity of prospective utility to improve many beneficial agronomic traits, fiber characteristics, and resistance to disease and drought. Introgression of traits from wild species can provide a natural way to incorporate advantageous traits through breeding to generate higher-producing cotton cultivars and more sustainable production systems. Interspecific introgression efforts by conventional methods are very time-consuming and costly, but can be expedited using marker-assisted selection. Using transcriptome sequencing we have developed the first gene-associated single nucleotide polymorphism (SNP) markers for wild cotton species G. tomentosum, G. mustelinum, G. armourianum and G. longicalyx. Markers were also developed for a secondary cultivated species G. barbadense cv. 3-79. A total of 62,832 non-redundant SNP markers were developed from the five wild species which can be utilized for interspecific germplasm introgression into cultivated G. hirsutum and are directly associated with genes. Over 500 of the G. barbadense markers have been validated by whole-genome radiation hybrid mapping. Overall 1,060 SNPs from the five different species have been screened and shown to produce acceptable genotyping assays. This large set of 62,832 SNPs relative to cultivated G. hirsutum will allow for the first high-density mapping of genes from five wild species that affect traits of interest, including beneficial agronomic and fiber characteristics. Upon mapping, the markers can be utilized for marker-assisted introgression of new germplasm into cultivated cotton and in

  8. Interpolation of natural cubic spline

    Directory of Open Access Journals (Sweden)

    Arun Kumar

    1992-01-01

    Full Text Available From the result in [1] it follows that there is a unique quadratic spline which bounds the same area as that of the function. The matching of the area for the cubic spline does not follow from the corresponding result proved in [2]. We obtain cubic splines which preserve the area of the function.

  9. Geometric and computer-aided spline hob modeling

    Science.gov (United States)

    Brailov, I. G.; Myasoedova, T. M.; Panchuk, K. L.; Krysova, I. V.; Rogoza, YU A.

    2018-03-01

    The paper considers acquiring the spline hob geometric model. The objective of the research is the development of a mathematical model of spline hob for spline shaft machining. The structure of the spline hob is described taking into consideration the motion in parameters of the machine tool system of cutting edge positioning and orientation. Computer-aided study is performed with the use of CAD and on the basis of 3D modeling methods. Vector representation of cutting edge geometry is accepted as the principal method of spline hob mathematical model development. The paper defines the correlations described by parametric vector functions representing helical cutting edges designed for spline shaft machining with consideration for helical movement in two dimensions. An application for acquiring the 3D model of spline hob is developed on the basis of AutoLISP for AutoCAD environment. The application presents the opportunity for the use of the acquired model for milling process imitation. An example of evaluation, analytical representation and computer modeling of the proposed geometrical model is reviewed. In the mentioned example, a calculation of key spline hob parameters assuring the capability of hobbing a spline shaft of standard design is performed. The polygonal and solid spline hob 3D models are acquired by the use of imitational computer modeling.

  10. High-resolution genetic map for understanding the effect of genome-wide recombination rate on nucleotide diversity in watermelon.

    Science.gov (United States)

    Reddy, Umesh K; Nimmakayala, Padma; Levi, Amnon; Abburi, Venkata Lakshmi; Saminathan, Thangasamy; Tomason, Yan R; Vajja, Gopinath; Reddy, Rishi; Abburi, Lavanya; Wehner, Todd C; Ronin, Yefim; Karol, Abraham

    2014-09-15

    We used genotyping by sequencing to identify a set of 10,480 single nucleotide polymorphism (SNP) markers for constructing a high-resolution genetic map of 1096 cM for watermelon. We assessed the genome-wide variation in recombination rate (GWRR) across the map and found an association between GWRR and genome-wide nucleotide diversity. Collinearity between the map and the genome-wide reference sequence for watermelon was studied to identify inconsistency and chromosome rearrangements. We assessed genome-wide nucleotide diversity, linkage disequilibrium (LD), and selective sweep for wild, semi-wild, and domesticated accessions of Citrullus lanatus var. lanatus to track signals of domestication. Principal component analysis combined with chromosome-wide phylogenetic study based on 1563 SNPs obtained after LD pruning with minor allele frequency of 0.05 resolved the differences between semi-wild and wild accessions as well as relationships among worldwide sweet watermelon. Population structure analysis revealed predominant ancestries for wild, semi-wild, and domesticated watermelons as well as admixture of various ancestries that were important for domestication. Sliding window analysis of Tajima's D across various chromosomes was used to resolve selective sweep. LD decay was estimated for various chromosomes. We identified a strong selective sweep on chromosome 3 consisting of important genes that might have had a role in sweet watermelon domestication. Copyright © 2014 Reddy et al.

  11. Image edges detection through B-Spline filters

    International Nuclear Information System (INIS)

    Mastropiero, D.G.

    1997-01-01

    B-Spline signal processing was used to detect the edges of a digital image. This technique is based upon processing the image in the Spline transform domain, instead of doing so in the space domain (classical processing). The transformation to the Spline transform domain means finding out the real coefficients that makes it possible to interpolate the grey levels of the original image, with a B-Spline polynomial. There exist basically two methods of carrying out this interpolation, which produces the existence of two different Spline transforms: an exact interpolation of the grey values (direct Spline transform), and an approximated interpolation (smoothing Spline transform). The latter results in a higher smoothness of the gray distribution function defined by the Spline transform coefficients, and is carried out with the aim of obtaining an edge detection algorithm which higher immunity to noise. Finally the transformed image was processed in order to detect the edges of the original image (the gradient method was used), and the results of the three methods (classical, direct Spline transform and smoothing Spline transform) were compared. The results were that, as expected, the smoothing Spline transform technique produced a detection algorithm more immune to external noise. On the other hand the direct Spline transform technique, emphasizes more the edges, even more than the classical method. As far as the consuming time is concerned, the classical method is clearly the fastest one, and may be applied whenever the presence of noise is not important, and whenever edges with high detail are not required in the final image. (author). 9 refs., 17 figs., 1 tab

  12. Straight-sided Spline Optimization

    DEFF Research Database (Denmark)

    Pedersen, Niels Leergaard

    2011-01-01

    and the subject of improving the design. The present paper concentrates on the optimization of splines and the predictions of stress concentrations, which are determined by finite element analysis (FEA). Using design modifications, that do not change the spline load carrying capacity, it is shown that large...

  13. P-Splines Using Derivative Information

    KAUST Repository

    Calderon, Christopher P.

    2010-01-01

    Time series associated with single-molecule experiments and/or simulations contain a wealth of multiscale information about complex biomolecular systems. We demonstrate how a collection of Penalized-splines (P-splines) can be useful in quantitatively summarizing such data. In this work, functions estimated using P-splines are associated with stochastic differential equations (SDEs). It is shown how quantities estimated in a single SDE summarize fast-scale phenomena, whereas variation between curves associated with different SDEs partially reflects noise induced by motion evolving on a slower time scale. P-splines assist in "semiparametrically" estimating nonlinear SDEs in situations where a time-dependent external force is applied to a single-molecule system. The P-splines introduced simultaneously use function and derivative scatterplot information to refine curve estimates. We refer to the approach as the PuDI (P-splines using Derivative Information) method. It is shown how generalized least squares ideas fit seamlessly into the PuDI method. Applications demonstrating how utilizing uncertainty information/approximations along with generalized least squares techniques improve PuDI fits are presented. Although the primary application here is in estimating nonlinear SDEs, the PuDI method is applicable to situations where both unbiased function and derivative estimates are available.

  14. A method to correct coordinate distortion in EBSD maps

    DEFF Research Database (Denmark)

    Zhang, Yubin; Elbrønd, Andreas Benjamin; Lin, Fengxiang

    2014-01-01

    Drift during electron backscatter diffraction mapping leads to coordinate distortions in resulting orientation maps, which affects, in some cases significantly, the accuracy of analysis. A method, thin plate spline, is introduced and tested to correct such coordinate distortions in the maps after...... the electron backscatter diffraction measurements. The accuracy of the correction as well as theoretical and practical aspects of using the thin plate spline method is discussed in detail. By comparing with other correction methods, it is shown that the thin plate spline method is most efficient to correct...

  15. Genome to Phenome Mapping in Apple Using Historical Data

    Directory of Open Access Journals (Sweden)

    Zoë Migicovsky

    2016-07-01

    Full Text Available Apple ( X Borkh. is one of the world’s most valuable fruit crops. Its large size and long juvenile phase make it a particularly promising candidate for marker-assisted selection (MAS. However, advances in MAS in apple have been limited by a lack of phenotype and genotype data from sufficiently large samples. To establish genotype-phenotype relationships and advance MAS in apple, we extracted over 24,000 phenotype scores from the USDA-Germplasm Resources Information Network (GRIN database and linked them with over 8000 single nucleotide polymorphisms (SNPs from 689 apple accessions from the USDA apple germplasm collection clonally preserved in Geneva, NY. We find significant genetic differentiation between Old World and New World cultivars and demonstrate that the genetic structure of the domesticated apple also reflects the time required for ripening. A genome-wide association study (GWAS of 36 phenotypes confirms the association between fruit color and the MYB1 locus, and we also report a novel association between the transcription factor, NAC18.1, and harvest date and fruit firmness. We demonstrate that harvest time and fruit size can be predicted with relatively high accuracies ( > 0.46 using genomic prediction. Rapid decay of linkage disequilibrium (LD in apples means millions of SNPs may be required for well-powered GWAS. However, rapid LD decay also promises to enable extremely high resolution mapping of causal variants, which holds great potential for advancing MAS.

  16. Association Mapping and Nucleotide Sequence Variation in Five Drought Tolerance Candidate Genes in Spring Wheat

    Directory of Open Access Journals (Sweden)

    Erena A. Edae

    2013-07-01

    Full Text Available Functional markers are needed for key genes involved in drought tolerance to improve selection for crop yield under moisture stress conditions. The objectives of this study were to (i characterize five drought tolerance candidate genes, namely dehydration responsive element binding 1A (, enhanced response to abscisic acid ( and , and fructan 1-exohydrolase ( and , in wheat ( L. for nucleotide and haplotype diversity, Tajima’s D value, and linkage disequilibrium (LD and (ii associate within-gene single nucleotide polymorphisms (SNPs with phenotypic traits in a spring wheat association mapping panel ( = 126. Field trials were grown under contrasting moisture regimes in Greeley, CO, and Melkassa, Ethiopia, in 2010 and 2011. Genome-specific amplification and DNA sequence analysis of the genes identified SNPs and revealed differences in nucleotide and haplotype diversity, Tajima’s D, and patterns of LD. showed associations (false discovery rate adjusted probability value = 0.1 with normalized difference vegetation index, heading date, biomass, and spikelet number. Both and were associated with harvest index, flag leaf width, and leaf senescence. was associated with grain yield, and was associated with thousand kernel weight and test weight. If validated in relevant genetic backgrounds, the identified marker–trait associations may be applied to functional marker-assisted selection.

  17. On Characterization of Quadratic Splines

    DEFF Research Database (Denmark)

    Chen, B. T.; Madsen, Kaj; Zhang, Shuzhong

    2005-01-01

    that the representation can be refined in a neighborhood of a non-degenerate point and a set of non-degenerate minimizers. Based on these characterizations, many existing algorithms for specific convex quadratic splines are also finite convergent for a general convex quadratic spline. Finally, we study the relationship...... between the convexity of a quadratic spline function and the monotonicity of the corresponding LCP problem. It is shown that, although both conditions lead to easy solvability of the problem, they are different in general....

  18. B-splines and Faddeev equations

    International Nuclear Information System (INIS)

    Huizing, A.J.

    1990-01-01

    Two numerical methods for solving the three-body equations describing relativistic pion deuteron scattering have been investigated. For separable two body interactions these equations form a set of coupled one-dimensional integral equations. They are plagued by singularities which occur in the kernel of the integral equations as well as in the solution. The methods to solve these equations differ in the way they treat the singularities. First the Fuda-Stuivenberg method is discussed. The basic idea of this method is an one time iteration of the set of integral equations to treat the logarithmic singularities. In the second method, the spline method, the unknown solution is approximated by splines. Cubic splines have been used with cubic B-splines as basis. If the solution is approximated by a linear combination of basis functions, an integral equation can be transformed into a set of linear equations for the expansion coefficients. This set of linear equations is solved by standard means. Splines are determined by points called knots. A proper choice of splines to approach the solution stands for a proper choice of the knots. The solution of the three-body scattering equations has a square root behaviour at a certain point. Hence it was investigated how the knots should be chosen to approximate the square root function by cubic B-splines in an optimal way. Before applying this method to solve numerically the three-body equations describing pion-deuteron scattering, an analytically solvable example has been constructed with a singularity structure of both kernel and solution comparable to those of the three-body equations. The accuracy of the numerical solution was determined to a large extent by the accuracy of the approximation of the square root part. The results for a pion laboratory energy of 47.4 MeV agree very well with those from literature. In a complete calculation for 47.7 MeV the spline method turned out to be a factor thousand faster than the Fuda

  19. Local and Global Path Generation for Autonomous Vehicles Using SplinesGeneración Local y Global de Trayectorias para Vehículo Autónomos Usando Splines

    Directory of Open Access Journals (Sweden)

    Randerson Lemos

    2016-05-01

    Full Text Available Abstract Context: Before autonomous vehicles being a reality in daily situations, outstanding issues regarding the techniques of autonomous mobility must be solved. Hence, relevant aspects of a path planning for terrestrial vehicles are shown. Method: The approached path planning technique uses splines to generate the global route. For this goal, waypoints obtained from online map services are used. With the global route parametrized in the arc-length, candidate local paths are computed and the optimal one is selected by cost functions. Results: Different routes are used to show that the number and distribution of waypoints are highly correlated to a satisfactory arc-length parameterization of the global route, which is essential to the proper behavior of the path planning technique. Conclusions: The cubic splines approach to the path planning problem successfully generates the global and local paths. Nevertheless, the use of raw data from the online map services showed to be unfeasible due the consistency of the data. Hence, a preprocessing stage of the raw data is proposed to guarantee the well behavior and robustness of the technique.

  20. Gaussian quadrature for splines via homotopy continuation: Rules for C2 cubic splines

    KAUST Repository

    Barton, Michael

    2015-10-24

    We introduce a new concept for generating optimal quadrature rules for splines. To generate an optimal quadrature rule in a given (target) spline space, we build an associated source space with known optimal quadrature and transfer the rule from the source space to the target one, while preserving the number of quadrature points and therefore optimality. The quadrature nodes and weights are, considered as a higher-dimensional point, a zero of a particular system of polynomial equations. As the space is continuously deformed by changing the source knot vector, the quadrature rule gets updated using polynomial homotopy continuation. For example, starting with C1C1 cubic splines with uniform knot sequences, we demonstrate the methodology by deriving the optimal rules for uniform C2C2 cubic spline spaces where the rule was only conjectured to date. We validate our algorithm by showing that the resulting quadrature rule is independent of the path chosen between the target and the source knot vectors as well as the source rule chosen.

  1. Gaussian quadrature for splines via homotopy continuation: Rules for C2 cubic splines

    KAUST Repository

    Barton, Michael; Calo, Victor M.

    2015-01-01

    We introduce a new concept for generating optimal quadrature rules for splines. To generate an optimal quadrature rule in a given (target) spline space, we build an associated source space with known optimal quadrature and transfer the rule from the source space to the target one, while preserving the number of quadrature points and therefore optimality. The quadrature nodes and weights are, considered as a higher-dimensional point, a zero of a particular system of polynomial equations. As the space is continuously deformed by changing the source knot vector, the quadrature rule gets updated using polynomial homotopy continuation. For example, starting with C1C1 cubic splines with uniform knot sequences, we demonstrate the methodology by deriving the optimal rules for uniform C2C2 cubic spline spaces where the rule was only conjectured to date. We validate our algorithm by showing that the resulting quadrature rule is independent of the path chosen between the target and the source knot vectors as well as the source rule chosen.

  2. Schwarz and multilevel methods for quadratic spline collocation

    Energy Technology Data Exchange (ETDEWEB)

    Christara, C.C. [Univ. of Toronto, Ontario (Canada); Smith, B. [Univ. of California, Los Angeles, CA (United States)

    1994-12-31

    Smooth spline collocation methods offer an alternative to Galerkin finite element methods, as well as to Hermite spline collocation methods, for the solution of linear elliptic Partial Differential Equations (PDEs). Recently, optimal order of convergence spline collocation methods have been developed for certain degree splines. Convergence proofs for smooth spline collocation methods are generally more difficult than for Galerkin finite elements or Hermite spline collocation, and they require stronger assumptions and more restrictions. However, numerical tests indicate that spline collocation methods are applicable to a wider class of problems, than the analysis requires, and are very competitive to finite element methods, with respect to efficiency. The authors will discuss Schwarz and multilevel methods for the solution of elliptic PDEs using quadratic spline collocation, and compare these with domain decomposition methods using substructuring. Numerical tests on a variety of parallel machines will also be presented. In addition, preliminary convergence analysis using Schwarz and/or maximum principle techniques will be presented.

  3. B-spline Collocation with Domain Decomposition Method

    International Nuclear Information System (INIS)

    Hidayat, M I P; Parman, S; Ariwahjoedi, B

    2013-01-01

    A global B-spline collocation method has been previously developed and successfully implemented by the present authors for solving elliptic partial differential equations in arbitrary complex domains. However, the global B-spline approximation, which is simply reduced to Bezier approximation of any degree p with C 0 continuity, has led to the use of B-spline basis of high order in order to achieve high accuracy. The need for B-spline bases of high order in the global method would be more prominent in domains of large dimension. For the increased collocation points, it may also lead to the ill-conditioning problem. In this study, overlapping domain decomposition of multiplicative Schwarz algorithm is combined with the global method. Our objective is two-fold that improving the accuracy with the combination technique, and also investigating influence of the combination technique to the employed B-spline basis orders with respect to the obtained accuracy. It was shown that the combination method produced higher accuracy with the B-spline basis of much lower order than that needed in implementation of the initial method. Hence, the approximation stability of the B-spline collocation method was also increased.

  4. Applications of the spline filter for areal filtration

    International Nuclear Information System (INIS)

    Tong, Mingsi; Zhang, Hao; Ott, Daniel; Chu, Wei; Song, John

    2015-01-01

    This paper proposes a general use isotropic areal spline filter. This new areal spline filter can achieve isotropy by approximating the transmission characteristic of the Gaussian filter. It can also eliminate the effect of void areas using a weighting factor, and resolve end-effect issues by applying new boundary conditions, which replace the first order finite difference in the traditional spline formulation. These improvements make the spline filter widely applicable to 3D surfaces and extend the applications of the spline filter in areal filtration. (technical note)

  5. Construction of local integro quintic splines

    Directory of Open Access Journals (Sweden)

    T. Zhanlav

    2016-06-01

    Full Text Available In this paper, we show that the integro quintic splines can locally be constructed without solving any systems of equations. The new construction does not require any additional end conditions. By virtue of these advantages the proposed algorithm is easy to implement and effective. At the same time, the local integro quintic splines possess as good approximation properties as the integro quintic splines. In this paper, we have proved that our local integro quintic spline has superconvergence properties at the knots for the first and third derivatives. The orders of convergence at the knots are six (not five for the first derivative and four (not three for the third derivative.

  6. Self-organizing map analysis using multivariate data from theophylline powders predicted by a thin-plate spline interpolation.

    Science.gov (United States)

    Yasuda, Akihito; Onuki, Yoshinori; Kikuchi, Shingo; Takayama, Kozo

    2010-11-01

    The quality by design concept in pharmaceutical formulation development requires establishment of a science-based rationale and a design space. We integrated thin-plate spline (TPS) interpolation and Kohonen's self-organizing map (SOM) to visualize the latent structure underlying causal factors and pharmaceutical responses. As a model pharmaceutical product, theophylline powders were prepared based on the standard formulation. The angle of repose, compressibility, cohesion, and dispersibility were measured as the response variables. These responses were predicted quantitatively on the basis of a nonlinear TPS. A large amount of data on these powders was generated and classified into several clusters using an SOM. The experimental values of the responses were predicted with high accuracy, and the data generated for the powders could be classified into several distinctive clusters. The SOM feature map allowed us to analyze the global and local correlations between causal factors and powder characteristics. For instance, the quantities of microcrystalline cellulose (MCC) and magnesium stearate (Mg-St) were classified distinctly into each cluster, indicating that the quantities of MCC and Mg-St were crucial for determining the powder characteristics. This technique provides a better understanding of the relationships between causal factors and pharmaceutical responses in theophylline powder formulations. © 2010 Wiley-Liss, Inc. and the American Pharmacists Association

  7. A method to correct coordinate distortion in EBSD maps

    International Nuclear Information System (INIS)

    Zhang, Y.B.; Elbrønd, A.; Lin, F.X.

    2014-01-01

    Drift during electron backscatter diffraction mapping leads to coordinate distortions in resulting orientation maps, which affects, in some cases significantly, the accuracy of analysis. A method, thin plate spline, is introduced and tested to correct such coordinate distortions in the maps after the electron backscatter diffraction measurements. The accuracy of the correction as well as theoretical and practical aspects of using the thin plate spline method is discussed in detail. By comparing with other correction methods, it is shown that the thin plate spline method is most efficient to correct different local distortions in the electron backscatter diffraction maps. - Highlights: • A new method is suggested to correct nonlinear spatial distortion in EBSD maps. • The method corrects EBSD maps more precisely than presently available methods. • Errors less than 1–2 pixels are typically obtained. • Direct quantitative analysis of dynamic data are available after this correction

  8. Academic procrastination and feelings toward procrastination in LD and non-LD students: Preliminary insights for future intervention.

    Science.gov (United States)

    Hen, Meirav

    2018-01-01

    Academic procrastination is a prevalent behavior that negatively influences students' performance and well-being. The growing number of students with learning disabilities (LD) in higher education communities leads to the need to study and address academic procrastination in this unique population of students and to develop ways to prevent and intervene. The present study examined the difference in academic procrastination between LD, non-LD, and supported LD college students in Israel. Findings indicated a significant difference between the three groups, both in academic procrastination and in the desire to change this behavior. Interestingly, supported LD students were similar to non-LD students in all parameters of academic procrastination; however, they expressed less desire to change this behavior than unsupported LD students. These findings highlight the effect of general academic support on academic procrastination in LD students. Future studies will need to further explore the specific elements of support that most contribute to the reduction of academic procrastination in LD students. Specific support programs for academic procrastination in LD students who take into account the findings of these future studies can then be developed and studied.

  9. Multidimensional splines for modeling FET nonlinearities

    Energy Technology Data Exchange (ETDEWEB)

    Barby, J A

    1986-01-01

    Circuit simulators like SPICE and timing simulators like MOTIS are used extensively for critical path verification of integrated circuits. MOSFET model evaluation dominates the run time of these simulators. Changes in technology results in costly updates, since modifications require reprogramming of the functions and their derivatives. The computational cost of MOSFET models can be reduced by using multidimensional polynomial splines. Since simulators based on the Newton Raphson algorithm require the function and first derivative, quadratic splines are sufficient for this purpose. The cost of updating the MOSFET model due to technology changes is greatly reduced since splines are derived from a set of points. Crucial for convergence speed of simulators is the fact that MOSFET characteristic equations are monotonic. This must be maintained by any simulation model. The splines the author designed do maintain monotonicity.

  10. Development and implementation of a highly-multiplexed SNP array for genetic mapping in maritime pine and comparative mapping with loblolly pine

    Directory of Open Access Journals (Sweden)

    Garnier-Géré Pauline

    2011-07-01

    Full Text Available Abstract Background Single nucleotide polymorphisms (SNPs are the most abundant source of genetic variation among individuals of a species. New genotyping technologies allow examining hundreds to thousands of SNPs in a single reaction for a wide range of applications such as genetic diversity analysis, linkage mapping, fine QTL mapping, association studies, marker-assisted or genome-wide selection. In this paper, we evaluated the potential of highly-multiplexed SNP genotyping for genetic mapping in maritime pine (Pinus pinaster Ait., the main conifer used for commercial plantation in southwestern Europe. Results We designed a custom GoldenGate assay for 1,536 SNPs detected through the resequencing of gene fragments (707 in vitro SNPs/Indels and from Sanger-derived Expressed Sequenced Tags assembled into a unigene set (829 in silico SNPs/Indels. Offspring from three-generation outbred (G2 and inbred (F2 pedigrees were genotyped. The success rate of the assay was 63.6% and 74.8% for in silico and in vitro SNPs, respectively. A genotyping error rate of 0.4% was further estimated from segregating data of SNPs belonging to the same gene. Overall, 394 SNPs were available for mapping. A total of 287 SNPs were integrated with previously mapped markers in the G2 parental maps, while 179 SNPs were localized on the map generated from the analysis of the F2 progeny. Based on 98 markers segregating in both pedigrees, we were able to generate a consensus map comprising 357 SNPs from 292 different loci. Finally, the analysis of sequence homology between mapped markers and their orthologs in a Pinus taeda linkage map, made it possible to align the 12 linkage groups of both species. Conclusions Our results show that the GoldenGate assay can be used successfully for high-throughput SNP genotyping in maritime pine, a conifer species that has a genome seven times the size of the human genome. This SNP-array will be extended thanks to recent sequencing effort using

  11. Improving the detection of pathways in genome-wide association studies by combined effects of SNPs from Linkage Disequilibrium blocks

    OpenAIRE

    Zhao, Huiying; Nyholt, Dale R.; Yang, Yuanhao; Wang, Jihua; Yang, Yuedong

    2017-01-01

    Genome-wide association studies (GWAS) have successfully identified single variants associated with diseases. To increase the power of GWAS, gene-based and pathway-based tests are commonly employed to detect more risk factors. However, the gene- and pathway-based association tests may be biased towards genes or pathways containing a large number of single-nucleotide polymorphisms (SNPs) with small P-values caused by high linkage disequilibrium (LD) correlations. To address such bias, numerous...

  12. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

    Science.gov (United States)

    Darabi, Hatef; Beesley, Jonathan; Droit, Arnaud; Kar, Siddhartha; Nord, Silje; Moradi Marjaneh, Mahdi; Soucy, Penny; Michailidou, Kyriaki; Ghoussaini, Maya; Fues Wahl, Hanna; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Alonso, M Rosario; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Benitez, Javier; Bogdanova, Natalia V; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Chang-Claude, Jenny; Choi, Ji-Yeob; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Easton, Douglas F; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Galle, Eva; García-Closas, Montserrat; Giles, Graham G; Goldberg, Mark S; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A; Hallberg, Emily; Hamann, Ute; Hartman, Mikael; Hollestelle, Antoinette; Hopper, John L; Ito, Hidemi; Jakubowska, Anna; Johnson, Nichola; Kang, Daehee; Khan, Sofia; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Lambrechts, Diether; Le Marchand, Loic; Lee, Soo Chin; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Mayes, Rebecca; McKay, James; Meindl, Alfons; Milne, Roger L; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Olswold, Curtis; Orr, Nick; Peterlongo, Paolo; Pita, Guillermo; Pylkäs, Katri; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Southey, Melissa C; Stram, Daniel O; Surowy, Harald; Swerdlow, Anthony; Teo, Soo H; Tessier, Daniel C; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Vachon, Celine M; Vincent, Daniel; Winqvist, Robert; Wu, Anna H; Wu, Pei-Ei; Yip, Cheng Har; Zheng, Wei; Pharoah, Paul D P; Hall, Per; Edwards, Stacey L; Simard, Jacques; French, Juliet D; Chenevix-Trench, Georgia; Dunning, Alison M

    2016-09-07

    Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.

  13. LOCALLY REFINED SPLINES REPRESENTATION FOR GEOSPATIAL BIG DATA

    Directory of Open Access Journals (Sweden)

    T. Dokken

    2015-08-01

    Full Text Available When viewed from distance, large parts of the topography of landmasses and the bathymetry of the sea and ocean floor can be regarded as a smooth background with local features. Consequently a digital elevation model combining a compact smooth representation of the background with locally added features has the potential of providing a compact and accurate representation for topography and bathymetry. The recent introduction of Locally Refined B-Splines (LR B-splines allows the granularity of spline representations to be locally adapted to the complexity of the smooth shape approximated. This allows few degrees of freedom to be used in areas with little variation, while adding extra degrees of freedom in areas in need of more modelling flexibility. In the EU fp7 Integrating Project IQmulus we exploit LR B-splines for approximating large point clouds representing bathymetry of the smooth sea and ocean floor. A drastic reduction is demonstrated in the bulk of the data representation compared to the size of input point clouds. The representation is very well suited for exploiting the power of GPUs for visualization as the spline format is transferred to the GPU and the triangulation needed for the visualization is generated on the GPU according to the viewing parameters. The LR B-splines are interoperable with other elevation model representations such as LIDAR data, raster representations and triangulated irregular networks as these can be used as input to the LR B-spline approximation algorithms. Output to these formats can be generated from the LR B-spline applications according to the resolution criteria required. The spline models are well suited for change detection as new sensor data can efficiently be compared to the compact LR B-spline representation.

  14. Evaluation of optimization methods for nonrigid medical image registration using mutual information and B-splines

    NARCIS (Netherlands)

    Klein, S.; Staring, M.; Pluim, J.P.W.

    2007-01-01

    A popular technique for nonrigid registration of medical images is based on the maximization of their mutual information, in combination with a deformation field parameterized by cubic B-splines. The coordinate mapping that relates the two images is found using an iterative optimization procedure.

  15. Evaluation of Logistic Regression and Multivariate Adaptive Regression Spline Models for Groundwater Potential Mapping Using R and GIS

    Directory of Open Access Journals (Sweden)

    Soyoung Park

    2017-07-01

    Full Text Available This study mapped and analyzed groundwater potential using two different models, logistic regression (LR and multivariate adaptive regression splines (MARS, and compared the results. A spatial database was constructed for groundwater well data and groundwater influence factors. Groundwater well data with a high potential yield of ≥70 m3/d were extracted, and 859 locations (70% were used for model training, whereas the other 365 locations (30% were used for model validation. We analyzed 16 groundwater influence factors including altitude, slope degree, slope aspect, plan curvature, profile curvature, topographic wetness index, stream power index, sediment transport index, distance from drainage, drainage density, lithology, distance from fault, fault density, distance from lineament, lineament density, and land cover. Groundwater potential maps (GPMs were constructed using LR and MARS models and tested using a receiver operating characteristics curve. Based on this analysis, the area under the curve (AUC for the success rate curve of GPMs created using the MARS and LR models was 0.867 and 0.838, and the AUC for the prediction rate curve was 0.836 and 0.801, respectively. This implies that the MARS model is useful and effective for groundwater potential analysis in the study area.

  16. Self-organizing map analysis using multivariate data from theophylline tablets predicted by a thin-plate spline interpolation.

    Science.gov (United States)

    Yasuda, Akihito; Onuki, Yoshinori; Obata, Yasuko; Yamamoto, Rie; Takayama, Kozo

    2013-01-01

    The "quality by design" concept in pharmaceutical formulation development requires the establishment of a science-based rationale and a design space. We integrated thin-plate spline (TPS) interpolation and Kohonen's self-organizing map (SOM) to visualize the latent structure underlying causal factors and pharmaceutical responses. As a model pharmaceutical product, theophylline tablets were prepared based on a standard formulation. The tensile strength, disintegration time, and stability of these variables were measured as response variables. These responses were predicted quantitatively based on nonlinear TPS. A large amount of data on these tablets was generated and classified into several clusters using an SOM. The experimental values of the responses were predicted with high accuracy, and the data generated for the tablets were classified into several distinct clusters. The SOM feature map allowed us to analyze the global and local correlations between causal factors and tablet characteristics. The results of this study suggest that increasing the proportion of microcrystalline cellulose (MCC) improved the tensile strength and the stability of tensile strength of these theophylline tablets. In addition, the proportion of MCC has an optimum value for disintegration time and stability of disintegration. Increasing the proportion of magnesium stearate extended disintegration time. Increasing the compression force improved tensile strength, but degraded the stability of disintegration. This technique provides a better understanding of the relationships between causal factors and pharmaceutical responses in theophylline tablet formulations.

  17. CerebroMatic: A Versatile Toolbox for Spline-Based MRI Template Creation.

    Science.gov (United States)

    Wilke, Marko; Altaye, Mekibib; Holland, Scott K

    2017-01-01

    Brain image spatial normalization and tissue segmentation rely on prior tissue probability maps. Appropriately selecting these tissue maps becomes particularly important when investigating "unusual" populations, such as young children or elderly subjects. When creating such priors, the disadvantage of applying more deformation must be weighed against the benefit of achieving a crisper image. We have previously suggested that statistically modeling demographic variables, instead of simply averaging images, is advantageous. Both aspects (more vs. less deformation and modeling vs. averaging) were explored here. We used imaging data from 1914 subjects, aged 13 months to 75 years, and employed multivariate adaptive regression splines to model the effects of age, field strength, gender, and data quality. Within the spm/cat12 framework, we compared an affine-only with a low- and a high-dimensional warping approach. As expected, more deformation on the individual level results in lower group dissimilarity. Consequently, effects of age in particular are less apparent in the resulting tissue maps when using a more extensive deformation scheme. Using statistically-described parameters, high-quality tissue probability maps could be generated for the whole age range; they are consistently closer to a gold standard than conventionally-generated priors based on 25, 50, or 100 subjects. Distinct effects of field strength, gender, and data quality were seen. We conclude that an extensive matching for generating tissue priors may model much of the variability inherent in the dataset which is then not contained in the resulting priors. Further, the statistical description of relevant parameters (using regression splines) allows for the generation of high-quality tissue probability maps while controlling for known confounds. The resulting CerebroMatic toolbox is available for download at http://irc.cchmc.org/software/cerebromatic.php.

  18. Recursive B-spline approximation using the Kalman filter

    Directory of Open Access Journals (Sweden)

    Jens Jauch

    2017-02-01

    Full Text Available This paper proposes a novel recursive B-spline approximation (RBA algorithm which approximates an unbounded number of data points with a B-spline function and achieves lower computational effort compared with previous algorithms. Conventional recursive algorithms based on the Kalman filter (KF restrict the approximation to a bounded and predefined interval. Conversely RBA includes a novel shift operation that enables to shift estimated B-spline coefficients in the state vector of a KF. This allows to adapt the interval in which the B-spline function can approximate data points during run-time.

  19. Optimization of straight-sided spline design

    DEFF Research Database (Denmark)

    Pedersen, Niels Leergaard

    2011-01-01

    and the subject of improving the design. The present paper concentrates on the optimization of splines and the predictions of stress concentrations, which are determined by finite element analysis (FEA). Using different design modifications, that do not change the spline load carrying capacity, it is shown...

  20. Using SNP markers to dissect linkage disequilibrium at a major quantitative trait locus for resistance to the potato cyst nematode Globodera pallida on potato chromosome V.

    Science.gov (United States)

    Achenbach, Ute; Paulo, Joao; Ilarionova, Evgenyia; Lübeck, Jens; Strahwald, Josef; Tacke, Eckhard; Hofferbert, Hans-Reinhard; Gebhardt, Christiane

    2009-02-01

    The damage caused by the parasitic root cyst nematode Globodera pallida is a major yield-limiting factor in potato cultivation . Breeding for resistance is facilitated by the PCR-based marker 'HC', which is diagnostic for an allele conferring high resistance against G. pallida pathotype Pa2/3 that has been introgressed from the wild potato species Solanum vernei into the Solanum tuberosum tetraploid breeding pool. The major quantitative trait locus (QTL) controlling this nematode resistance maps on potato chromosome V in a hot spot for resistance to various pathogens including nematodes and the oomycete Phytophthora infestans. An unstructured sample of 79 tetraploid, highly heterozygous varieties and breeding clones was selected based on presence (41 genotypes) or absence (38 genotypes) of the HC marker. Testing the clones for resistance to G. pallida confirmed the diagnostic power of the HC marker. The 79 individuals were genotyped for 100 single nucleotide polymorphisms (SNPs) at 10 loci distributed over 38 cM on chromosome V. Forty-five SNPs at six loci spanning 2 cM in the interval between markers GP21-GP179 were associated with resistance to G. pallida. Based on linkage disequilibrium (LD) between SNP markers, six LD groups comprising between 2 and 18 SNPs were identified. The LD groups indicated the existence of multiple alleles at a single resistance locus or at several, physically linked resistance loci. LD group C comprising 18 SNPs corresponded to the 'HC' marker. LD group E included 16 SNPs and showed an association peak, which positioned one nematode resistance locus physically close to the R1 gene family.

  1. Cortical surface registration using spherical thin-plate spline with sulcal lines and mean curvature as features.

    Science.gov (United States)

    Park, Hyunjin; Park, Jun-Sung; Seong, Joon-Kyung; Na, Duk L; Lee, Jong-Min

    2012-04-30

    Analysis of cortical patterns requires accurate cortical surface registration. Many researchers map the cortical surface onto a unit sphere and perform registration of two images defined on the unit sphere. Here we have developed a novel registration framework for the cortical surface based on spherical thin-plate splines. Small-scale composition of spherical thin-plate splines was used as the geometric interpolant to avoid folding in the geometric transform. Using an automatic algorithm based on anisotropic skeletons, we extracted seven sulcal lines, which we then incorporated as landmark information. Mean curvature was chosen as an additional feature for matching between spherical maps. We employed a two-term cost function to encourage matching of both sulcal lines and the mean curvature between the spherical maps. Application of our registration framework to fifty pairwise registrations of T1-weighted MRI scans resulted in improved registration accuracy, which was computed from sulcal lines. Our registration approach was tested as an additional procedure to improve an existing surface registration algorithm. Our registration framework maintained an accurate registration over the sulcal lines while significantly increasing the cross-correlation of mean curvature between the spherical maps being registered. Copyright © 2012 Elsevier B.V. All rights reserved.

  2. Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families.

    Science.gov (United States)

    Shetty, Priya B; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C; Kardia, Sharon L R; Hanis, Craig L; Arnett, Donna K; Hunt, Steven C; Boerwinkle, Eric; Rao, Dabeeru C; Cooper, Richard S; Risch, Neil; Zhu, Xiaofeng

    2015-02-01

    Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African Americans. The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. The analysis was performed in 1905 unrelated African American subjects from the National Heart, Lung and Blood Institute's Family Blood Pressure Program (FBPP). Regions showing admixture evidence were followed-up with family-based association analysis in 3556 African American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age(2), sex, body mass index, and genome-wide mean ancestry to minimize the confounding caused by population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (low-density lipoprotein cholesterol), 8 (high-density lipoprotein cholesterol), 14 (triglycerides), and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52 939 single-nucleotide polymorphisms (SNPs) were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with high-density lipoprotein cholesterol (2 SNPs), low-density lipoprotein cholesterol (4 SNPs), and triglycerides (5 SNPs). The family data were used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions, including genes with known associations for cardiovascular disease. This study identified regions on chromosomes 7, 8, 14, and 19 and 11 SNPs from the fine-mapping analysis that were associated with high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides for further studies of cardiovascular disease in African Americans. © 2014 American Heart Association, Inc.

  3. Variants for HDL-C, LDL-C and Triglycerides Identified from Admixture Mapping and Fine-Mapping Analysis in African-American Families

    Science.gov (United States)

    Shetty, Priya B.; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C.; Kardia, Sharon L.R.; Hanis, Craig L.; Arnett, Donna K.; Hunt, Steven C.; Boerwinkle, Eric; Rao, D.C.; Cooper, R.S.; Risch, Neil; Zhu, Xiaofeng

    2015-01-01

    Background Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African-Americans. Methods and Results The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and triglycerides. The analysis was performed in 1,905 unrelated African-American subjects from the National Heart, Lung and Blood Institute’s Family Blood Pressure Program. Regions showing admixture evidence were followed-up with family-based association analysis in 3,556 African-American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age2, sex, body-mass-index, and genome-wide mean ancestry to minimize the confounding due to population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (LDL-C), 8 (HDL-C), 14 (triglycerides) and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52,939 SNPs were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with HDL-C (2 SNPs), LDL-C (4 SNPs) and triglycerides (5 SNPs). The family data was used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions including genes with known associations for cardiovascular disease. Conclusions This study identified regions on chromosomes 7, 8, 14 and 19 and 11 SNPs from the fine-mapping analysis that were associated with HDL-C, LDL-C and triglycerides for further studies of cardiovascular disease in African-Americans. PMID:25552592

  4. Efficient computation of smoothing splines via adaptive basis sampling

    KAUST Repository

    Ma, Ping

    2015-06-24

    © 2015 Biometrika Trust. Smoothing splines provide flexible nonparametric regression estimators. However, the high computational cost of smoothing splines for large datasets has hindered their wide application. In this article, we develop a new method, named adaptive basis sampling, for efficient computation of smoothing splines in super-large samples. Except for the univariate case where the Reinsch algorithm is applicable, a smoothing spline for a regression problem with sample size n can be expressed as a linear combination of n basis functions and its computational complexity is generally O(n3). We achieve a more scalable computation in the multivariate case by evaluating the smoothing spline using a smaller set of basis functions, obtained by an adaptive sampling scheme that uses values of the response variable. Our asymptotic analysis shows that smoothing splines computed via adaptive basis sampling converge to the true function at the same rate as full basis smoothing splines. Using simulation studies and a large-scale deep earth core-mantle boundary imaging study, we show that the proposed method outperforms a sampling method that does not use the values of response variables.

  5. Efficient computation of smoothing splines via adaptive basis sampling

    KAUST Repository

    Ma, Ping; Huang, Jianhua Z.; Zhang, Nan

    2015-01-01

    © 2015 Biometrika Trust. Smoothing splines provide flexible nonparametric regression estimators. However, the high computational cost of smoothing splines for large datasets has hindered their wide application. In this article, we develop a new method, named adaptive basis sampling, for efficient computation of smoothing splines in super-large samples. Except for the univariate case where the Reinsch algorithm is applicable, a smoothing spline for a regression problem with sample size n can be expressed as a linear combination of n basis functions and its computational complexity is generally O(n3). We achieve a more scalable computation in the multivariate case by evaluating the smoothing spline using a smaller set of basis functions, obtained by an adaptive sampling scheme that uses values of the response variable. Our asymptotic analysis shows that smoothing splines computed via adaptive basis sampling converge to the true function at the same rate as full basis smoothing splines. Using simulation studies and a large-scale deep earth core-mantle boundary imaging study, we show that the proposed method outperforms a sampling method that does not use the values of response variables.

  6. Novel Genes Affecting the Interaction between the Cabbage Whitefly and Arabidopsis Uncovered by Genome-Wide Association Mapping.

    Directory of Open Access Journals (Sweden)

    Colette Broekgaarden

    Full Text Available Plants have evolved a variety of ways to defend themselves against biotic attackers. This has resulted in the presence of substantial variation in defense mechanisms among plants, even within a species. Genome-wide association (GWA mapping is a useful tool to study the genetic architecture of traits, but has so far only had limited exploitation in studies of plant defense. Here, we study the genetic architecture of defense against the phloem-feeding insect cabbage whitefly (Aleyrodes proletella in Arabidopsis thaliana. We determined whitefly performance, i.e. the survival and reproduction of whitefly females, on 360 worldwide selected natural accessions and subsequently performed GWA mapping using 214,051 SNPs. Substantial variation for whitefly adult survival and oviposition rate (number of eggs laid per female per day was observed between the accessions. We identified 39 candidate SNPs for either whitefly adult survival or oviposition rate, all with relatively small effects, underpinning the complex architecture of defense traits. Among the corresponding candidate genes, i.e. genes in linkage disequilibrium (LD with candidate SNPs, none have previously been identified as a gene playing a role in the interaction between plants and phloem-feeding insects. Whitefly performance on knock-out mutants of a number of candidate genes was significantly affected, validating the potential of GWA mapping for novel gene discovery in plant-insect interactions. Our results show that GWA analysis is a very useful tool to gain insight into the genetic architecture of plant defense against herbivorous insects, i.e. we identified and validated several genes affecting whitefly performance that have not previously been related to plant defense against herbivorous insects.

  7. Stock price forecasting for companies listed on Tehran stock exchange using multivariate adaptive regression splines model and semi-parametric splines technique

    Science.gov (United States)

    Rounaghi, Mohammad Mahdi; Abbaszadeh, Mohammad Reza; Arashi, Mohammad

    2015-11-01

    One of the most important topics of interest to investors is stock price changes. Investors whose goals are long term are sensitive to stock price and its changes and react to them. In this regard, we used multivariate adaptive regression splines (MARS) model and semi-parametric splines technique for predicting stock price in this study. The MARS model as a nonparametric method is an adaptive method for regression and it fits for problems with high dimensions and several variables. semi-parametric splines technique was used in this study. Smoothing splines is a nonparametric regression method. In this study, we used 40 variables (30 accounting variables and 10 economic variables) for predicting stock price using the MARS model and using semi-parametric splines technique. After investigating the models, we select 4 accounting variables (book value per share, predicted earnings per share, P/E ratio and risk) as influencing variables on predicting stock price using the MARS model. After fitting the semi-parametric splines technique, only 4 accounting variables (dividends, net EPS, EPS Forecast and P/E Ratio) were selected as variables effective in forecasting stock prices.

  8. Limit Stress Spline Models for GRP Composites | Ihueze | Nigerian ...

    African Journals Online (AJOL)

    Spline functions were established on the assumption of three intervals and fitting of quadratic and cubic splines to critical stress-strain responses data. Quadratic ... of data points. Spline model is therefore recommended as it evaluates the function at subintervals, eliminating the error associated with wide range interpolation.

  9. Stroop Color-Word Test: A Screening Measure of Selective Attention to Differentiate LD From Non LD Children.

    Science.gov (United States)

    Lazarus, Philip J.; And Others

    1984-01-01

    Used the Stroop Color-Word Test to measure selective attention in learning disabled (N=45) and nonLD (N=50) children. Results indicated that LD children have a significant weakness in the process of selective attention compared to the nonLD children. Findings suggested that the Stroop is an effective screening measure. (JAC)

  10. An investigation of temporal regularization techniques for dynamic PET reconstructions using temporal splines

    International Nuclear Information System (INIS)

    Verhaeghe, Jeroen; D'Asseler, Yves; Vandenberghe, Stefaan; Staelens, Steven; Lemahieu, Ignace

    2007-01-01

    The use of a temporal B-spline basis for the reconstruction of dynamic positron emission tomography data was investigated. Maximum likelihood (ML) reconstructions using an expectation maximization framework and maximum A-posteriori (MAP) reconstructions using the generalized expectation maximization framework were evaluated. Different parameters of the B-spline basis of such as order, number of basis functions and knot placing were investigated in a reconstruction task using simulated dynamic list-mode data. We found that a higher order basis reduced both the bias and variance. Using a higher number of basis functions in the modeling of the time activity curves (TACs) allowed the algorithm to model faster changes of the TACs, however, the TACs became noisier. We have compared ML, Gaussian postsmoothed ML and MAP reconstructions. The noise level in the ML reconstructions was controlled by varying the number of basis functions. The MAP algorithm penalized the integrated squared curvature of the reconstructed TAC. The postsmoothed ML was always outperformed in terms of bias and variance properties by the MAP and ML reconstructions. A simple adaptive knot placing strategy was also developed and evaluated. It is based on an arc length redistribution scheme during the reconstruction. The free knot reconstruction allowed a more accurate reconstruction while reducing the noise level especially for fast changing TACs such as blood input functions. Limiting the number of temporal basis functions combined with the adaptive knot placing strategy is in this case advantageous for regularization purposes when compared to the other regularization techniques

  11. The effective size of the Icelandic population and the prospects for LD mapping: inference from unphased microsatellite markers

    DEFF Research Database (Denmark)

    Bataillon, Thomas; Mailund, Thomas; Thorlacius, Steinunn

    2006-01-01

    on scaled recombination rates from patterns of LD. Patterns of LD in Iceland suggest a genome-wide scaled recombination rate of ρ* = 200 [130–330] per cM which is equivalent to a long term effective population size of ~5000 in the range of estimates recently reported in three populations using extensive...

  12. Association mapping of seed and disease resistance traits in Theobroma cacao L.

    Science.gov (United States)

    Motilal, Lambert A; Zhang, Dapeng; Mischke, Sue; Meinhardt, Lyndel W; Boccara, Michel; Fouet, Olivier; Lanaud, Claire; Umaharan, Pathmanathan

    2016-12-01

    Microsatellite and single nucleotide polymorphism markers that could be used in marker assisted breeding of cacao were identified for number of filled seeds, black pod resistance and witches' broom disease resistance. An association mapping approach was employed to identify markers for seed number and resistance to black pod and witches' broom disease (WBD) in cacao (Theobroma cacao L.). Ninety-five microsatellites (SSRs) and 775 single nucleotide polymorphisms (SNPs) were assessed on 483 unique trees in the International Cocoa Genebank Trinidad (ICGT). Linkage disequilibrium (LD) and association mapping studies were conducted to identify markers to tag the phenotypic traits. Decay of LD occurred over an average 9.3 cM for chromosomes 1-9 and 2.5 cM for chromosome 10. Marker/trait associations were generally identified based on general linear models (GLMs) that incorporated principal components from molecular information on relatedness factor. Seven markers (mTcCIR 8, 66, 126, 212; TcSNP368, 697, 1370) on chromosomes 1 and 9 were identified for number of filled seeds (NSEED). A single marker was found for black pod resistance (mTcCIR280) on chromosome 3, whereas six markers on chromosomes 4, 5, 6, 8, and 10 were detected for WBD (mTcCIR91, 183; TcSNP375, 720, 1230 and 1374). It is expected that this association mapping study in cacao would contribute to the knowledge of the genetic determinism of cocoa traits and that the markers identified herein would prove useful in marker assisted breeding of cacao.

  13. Positivity Preserving Interpolation Using Rational Bicubic Spline

    Directory of Open Access Journals (Sweden)

    Samsul Ariffin Abdul Karim

    2015-01-01

    Full Text Available This paper discusses the positivity preserving interpolation for positive surfaces data by extending the C1 rational cubic spline interpolant of Karim and Kong to the bivariate cases. The partially blended rational bicubic spline has 12 parameters in the descriptions where 8 of them are free parameters. The sufficient conditions for the positivity are derived on every four boundary curves network on the rectangular patch. Numerical comparison with existing schemes also has been done in detail. Based on Root Mean Square Error (RMSE, our partially blended rational bicubic spline is on a par with the established methods.

  14. SNP2Structure: A Public and Versatile Resource for Mapping and Three-Dimensional Modeling of Missense SNPs on Human Protein Structures

    Directory of Open Access Journals (Sweden)

    Difei Wang

    2015-01-01

    Full Text Available One of the long-standing challenges in biology is to understand how non-synonymous single nucleotide polymorphisms (nsSNPs change protein structure and further affect their function. While it is impractical to solve all the mutated protein structures experimentally, it is quite feasible to model the mutated structures in silico. Toward this goal, we built a publicly available structure database resource (SNP2Structure, https://apps.icbi.georgetown.edu/snp2structure focusing on missense mutations, msSNP. Compared with web portals with similar aims, SNP2Structure has the following major advantages. First, our portal offers direct comparison of two related 3D structures. Second, the protein models include all interacting molecules in the original PDB structures, so users are able to determine regions of potential interaction changes when a protein mutation occurs. Third, the mutated structures are available to download locally for further structural and functional analysis. Fourth, we used Jsmol package to display the protein structure that has no system compatibility issue. SNP2Structure provides reliable, high quality mapping of nsSNPs to 3D protein structures enabling researchers to explore the likely functional impact of human disease-causing mutations.

  15. Whole genome study of linkage disequilibrium in Sahiwal cattle

    African Journals Online (AJOL)

    Esnart Mukumbo

    2017-12-30

    Dec 30, 2017 ... 500,968 SNPs comprising 2518.1 Mb of the genome, were used for the LD estimation. The minior ..... on a high density SNP panel. BMC Genom. ... Linkage disequilibrium and the mapping of complex human traits. Trend.

  16. A multianalytical approach to evaluate the association of 55 SNPs in 28 genes with obesity risk in North Indian adults.

    Science.gov (United States)

    Srivastava, Apurva; Mittal, Balraj; Prakash, Jai; Srivastava, Pranjal; Srivastava, Nimisha; Srivastava, Neena

    2017-03-01

    The aim of the study was to investigate the association of 55 SNPs in 28 genes with obesity risk in a North Indian population using a multianalytical approach. Overall, 480 subjects from the North Indian population were studied using strict inclusion/exclusion criteria. SNP Genotyping was carried out by Sequenom Mass ARRAY platform (Sequenom, San Diego, CA) and validated Taqman ® allelic discrimination (Applied Biosystems ® ). Statistical analyses were performed using SPSS software version 19.0, SNPStats, GMDR software (version 6) and GENEMANIA. Logistic regression analysis of 55 SNPs revealed significant associations (P obesity risk whereas the remaining 6 SNPs revealed no association (P > .05). The pathway-wise G-score revealed the significant role (P = .0001) of food intake-energy expenditure pathway genes. In CART analysis, the combined genotypes of FTO rs9939609 and TCF7L2 rs7903146 revealed the highest risk for BMI linked obesity. The analysis of the FTO-IRX3 locus revealed high LD and high order gene-gene interactions for BMI linked obesity. The interaction network of all of the associated genes in the present study generated by GENEMANIA revealed direct and indirect connections. In addition, the analysis with centralized obesity revealed that none of the SNPs except for FTO rs17818902 were significantly associated (P obesity risk in the North Indian population. © 2016 Wiley Periodicals, Inc.

  17. Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset.

    Directory of Open Access Journals (Sweden)

    Eric R Gamazon

    Full Text Available Microarray gene expression data has been used in genome-wide association studies to allow researchers to study gene regulation as well as other complex phenotypes including disease risks and drug response. To reach scientifically sound conclusions from these studies, however, it is necessary to get reliable summarization of gene expression intensities. Among various factors that could affect expression profiling using a microarray platform, single nucleotide polymorphisms (SNPs in target mRNA may lead to reduced signal intensity measurements and result in spurious results. The recently released 1000 Genomes Project dataset provides an opportunity to evaluate the distribution of both known and novel SNPs in the International HapMap Project lymphoblastoid cell lines (LCLs. We mapped the 1000 Genomes Project genotypic data to the Affymetrix GeneChip Human Exon 1.0ST array (exon array, which had been used in our previous studies and for which gene expression data had been made publicly available. We also evaluated the potential impact of these SNPs on the differentially spliced probesets we had identified previously. Though the 1000 Genomes Project data allowed a comprehensive survey of the SNPs in this particular array, the same approach can certainly be applied to other microarray platforms. Furthermore, we present a detailed catalogue of SNP-containing probesets (exon-level and transcript clusters (gene-level, which can be considered in evaluating findings using the exon array as well as benefit the design of follow-up experiments and data re-analysis.

  18. Higher order multipoles and splines in plasma simulations

    International Nuclear Information System (INIS)

    Okuda, H.; Cheng, C.Z.

    1978-01-01

    The reduction of spatial grid effects in plasma simulations has been studied numerically using higher order multipole expansions and the spline method in one dimension. It is found that, while keeping the higher order moments such as quadrupole and octopole moments substantially reduces the grid effects, quadratic and cubic splines in general have better stability properties for numerical plasma simulations when the Debye length is much smaller than the grid size. In particular the spline method may be useful in three-dimensional simulations for plasma confinement where the grid size in the axial direction is much greater than the Debye length. (Auth.)

  19. Higher-order multipoles and splines in plasma simulations

    International Nuclear Information System (INIS)

    Okuda, H.; Cheng, C.Z.

    1977-12-01

    Reduction of spatial grid effects in plasma simulations has been studied numerically using higher order multipole expansions and spline method in one dimension. It is found that, while keeping the higher order moments such as quadrupole and octopole moments substantially reduces the grid effects, quadratic and cubic splines in general have better stability properties for numerical plasma simulations when the Debye length is much smaller than the grid size. In particular, spline method may be useful in three dimensional simulations for plasma confinement where the grid size in the axial direction is much greater than the Debye length

  20. Automatic Shape Control of Triangular B-Splines of Arbitrary Topology

    Institute of Scientific and Technical Information of China (English)

    Ying He; Xian-Feng Gu; Hong Qin

    2006-01-01

    Triangular B-splines are powerful and flexible in modeling a broader class of geometric objects defined over arbitrary, non-rectangular domains. Despite their great potential and advantages in theory, practical techniques and computational tools with triangular B-splines are less-developed. This is mainly because users have to handle a large number of irregularly distributed control points over arbitrary triangulation. In this paper, an automatic and efficient method is proposed to generate visually pleasing, high-quality triangular B-splines of arbitrary topology. The experimental results on several real datasets show that triangular B-splines are powerful and effective in both theory and practice.

  1. USING SPLINE FUNCTIONS FOR THE SUBSTANTIATION OF TAX POLICIES BY LOCAL AUTHORITIES

    Directory of Open Access Journals (Sweden)

    Otgon Cristian

    2011-07-01

    Full Text Available The paper aims to approach innovative financial instruments for the management of public resources. In the category of these innovative tools have been included polynomial spline functions used for budgetary sizing in the substantiating of fiscal and budgetary policies. In order to use polynomial spline functions there have been made a number of steps consisted in the establishment of nodes, the calculation of specific coefficients corresponding to the spline functions, development and determination of errors of approximation. Also in this paper was done extrapolation of series of property tax data using polynomial spline functions of order I. For spline impelementation were taken two series of data, one reffering to property tax as a resultative variable and the second one reffering to building tax, resulting a correlation indicator R=0,95. Moreover the calculation of spline functions are easy to solve and due to small errors of approximation have a great power of predictibility, much better than using ordinary least squares method. In order to realise the research there have been used as methods of research several steps, namely observation, series of data construction and processing the data with spline functions. The data construction is a daily series gathered from the budget account, reffering to building tax and property tax. The added value of this paper is given by the possibility of avoiding deficits by using spline functions as innovative instruments in the publlic finance, the original contribution is made by the average of splines resulted from the series of data. The research results lead to conclusion that the polynomial spline functions are recommended to form the elaboration of fiscal and budgetary policies, due to relatively small errors obtained in the extrapolation of economic processes and phenomena. Future research directions are taking in consideration to study the polynomial spline functions of second-order, third

  2. Thin-plate spline quadrature of geodetic integrals

    Science.gov (United States)

    Vangysen, Herman

    1989-01-01

    Thin-plate spline functions (known for their flexibility and fidelity in representing experimental data) are especially well-suited for the numerical integration of geodetic integrals in the area where the integration is most sensitive to the data, i.e., in the immediate vicinity of the evaluation point. Spline quadrature rules are derived for the contribution of a circular innermost zone to Stoke's formula, to the formulae of Vening Meinesz, and to the recursively evaluated operator L(n) in the analytical continuation solution of Molodensky's problem. These rules are exact for interpolating thin-plate splines. In cases where the integration data are distributed irregularly, a system of linear equations needs to be solved for the quadrature coefficients. Formulae are given for the terms appearing in these equations. In case the data are regularly distributed, the coefficients may be determined once-and-for-all. Examples are given of some fixed-point rules. With such rules successive evaluation, within a circular disk, of the terms in Molodensky's series becomes relatively easy. The spline quadrature technique presented complements other techniques such as ring integration for intermediate integration zones.

  3. Deconvolution using thin-plate splines

    International Nuclear Information System (INIS)

    Toussaint, Udo v.; Gori, Silvio

    2007-01-01

    The ubiquitous problem of estimating 2-dimensional profile information from a set of line integrated measurements is tackled with Bayesian probability theory by exploiting prior information about local smoothness. For this purpose thin-plate-splines (the 2-D minimal curvature analogue of cubic-splines in 1-D) are employed. The optimal number of support points required for inversion of 2-D tomographic problems is determined using model comparison. Properties of this approach are discussed and the question of suitable priors is addressed. Finally, we illustrated the properties of this approach with 2-D inversion results using data from line-integrated measurements from fusion experiments

  4. Quasi interpolation with Voronoi splines.

    Science.gov (United States)

    Mirzargar, Mahsa; Entezari, Alireza

    2011-12-01

    We present a quasi interpolation framework that attains the optimal approximation-order of Voronoi splines for reconstruction of volumetric data sampled on general lattices. The quasi interpolation framework of Voronoi splines provides an unbiased reconstruction method across various lattices. Therefore this framework allows us to analyze and contrast the sampling-theoretic performance of general lattices, using signal reconstruction, in an unbiased manner. Our quasi interpolation methodology is implemented as an efficient FIR filter that can be applied online or as a preprocessing step. We present visual and numerical experiments that demonstrate the improved accuracy of reconstruction across lattices, using the quasi interpolation framework. © 2011 IEEE

  5. A direct method to solve optimal knots of B-spline curves: An application for non-uniform B-spline curves fitting.

    Directory of Open Access Journals (Sweden)

    Van Than Dung

    Full Text Available B-spline functions are widely used in many industrial applications such as computer graphic representations, computer aided design, computer aided manufacturing, computer numerical control, etc. Recently, there exist some demands, e.g. in reverse engineering (RE area, to employ B-spline curves for non-trivial cases that include curves with discontinuous points, cusps or turning points from the sampled data. The most challenging task in these cases is in the identification of the number of knots and their respective locations in non-uniform space in the most efficient computational cost. This paper presents a new strategy for fitting any forms of curve by B-spline functions via local algorithm. A new two-step method for fast knot calculation is proposed. In the first step, the data is split using a bisecting method with predetermined allowable error to obtain coarse knots. Secondly, the knots are optimized, for both locations and continuity levels, by employing a non-linear least squares technique. The B-spline function is, therefore, obtained by solving the ordinary least squares problem. The performance of the proposed method is validated by using various numerical experimental data, with and without simulated noise, which were generated by a B-spline function and deterministic parametric functions. This paper also discusses the benchmarking of the proposed method to the existing methods in literature. The proposed method is shown to be able to reconstruct B-spline functions from sampled data within acceptable tolerance. It is also shown that, the proposed method can be applied for fitting any types of curves ranging from smooth ones to discontinuous ones. In addition, the method does not require excessive computational cost, which allows it to be used in automatic reverse engineering applications.

  6. Biochemical Properties and Mechanism of Action of Enterocin LD3 Purified from Enterococcus hirae LD3.

    Science.gov (United States)

    Gupta, Aabha; Tiwari, Santosh Kumar; Netrebov, Victoria; Chikindas, Michael L

    2016-09-01

    Enterocin LD3 was purified using activity-guided multistep chromatography techniques such as cation-exchange and gel-filtration chromatography. The preparation's purity was tested using reverse-phase ultra-performance liquid chromatography. The specific activity was tested to be 187.5 AU µg(-1) with 13-fold purification. Purified enterocin LD3 was heat stable up to 121 °C (at 15 psi pressure) and pH 2-6. The activity was lost in the presence of papain, reduced by proteinase K, pepsin and trypsin, but was unaffected by amylase and lipase, suggesting proteinaceous nature of the compound and no role of carbohydrate and lipid moieties in the activity. MALDI-TOF/MS analysis of purified enterocin LD3 resolved m/z 4114.6, and N-terminal amino acid sequence was found to be H2NQGGQANQ-COOH suggesting a new bacteriocin. Dissipation of membrane potential, loss of internal ATP and bactericidal effect were recorded when indicator strain Micrococcus luteus was treated with enterocin LD3. It inhibited Gram-positive and Gram-negative bacteria including human pathogens such as Staphylococcus aureus, Pseudomonas fluorescens, Pseudomonas aeruginosa, Salmonella typhi, Shigella flexneri, Listeria monocytogenes, Escherichia coli O157:H7, E. coli (urogenic, a clinical isolate) and Vibrio sp. These properties of purified enterocin LD3 suggest its applications as a food biopreservative and as an alternative to clinical antibiotics.

  7. Constraints on eQTL Fine Mapping in the Presence of Multisite Local Regulation of Gene Expression

    Directory of Open Access Journals (Sweden)

    Biao Zeng

    2017-08-01

    Full Text Available Expression quantitative trait locus (eQTL detection has emerged as an important tool for unraveling of the relationship between genetic risk factors and disease or clinical phenotypes. Most studies use single marker linear regression to discover primary signals, followed by sequential conditional modeling to detect secondary genetic variants affecting gene expression. However, this approach assumes that functional variants are sparsely distributed and that close linkage between them has little impact on estimation of their precise location and the magnitude of effects. We describe a series of simulation studies designed to evaluate the impact of linkage disequilibrium (LD on the fine mapping of causal variants with typical eQTL effect sizes. In the presence of multisite regulation, even though between 80 and 90% of modeled eSNPs associate with normally distributed traits, up to 10% of all secondary signals could be statistical artifacts, and at least 5% but up to one-quarter of credible intervals of SNPs within r2 > 0.8 of the peak may not even include a causal site. The Bayesian methods eCAVIAR and DAP (Deterministic Approximation of Posteriors provide only modest improvement in resolution. Given the strong empirical evidence that gene expression is commonly regulated by more than one variant, we conclude that the fine mapping of causal variants needs to be adjusted for multisite influences, as conditional estimates can be highly biased by interference among linked sites, but ultimately experimental verification of individual effects is needed. Presumably similar conclusions apply not just to eQTL mapping, but to multisite influences on fine mapping of most types of quantitative trait.

  8. Detrending of non-stationary noise data by spline techniques

    International Nuclear Information System (INIS)

    Behringer, K.

    1989-11-01

    An off-line method for detrending non-stationary noise data has been investigated. It uses a least squares spline approximation of the noise data with equally spaced breakpoints. Subtraction of the spline approximation from the noise signal at each data point gives a residual noise signal. The method acts as a high-pass filter with very sharp frequency cutoff. The cutoff frequency is determined by the breakpoint distance. The steepness of the cutoff is controlled by the spline order. (author) 12 figs., 1 tab., 5 refs

  9. Illumination estimation via thin-plate spline interpolation.

    Science.gov (United States)

    Shi, Lilong; Xiong, Weihua; Funt, Brian

    2011-05-01

    Thin-plate spline interpolation is used to interpolate the chromaticity of the color of the incident scene illumination across a training set of images. Given the image of a scene under unknown illumination, the chromaticity of the scene illumination can be found from the interpolated function. The resulting illumination-estimation method can be used to provide color constancy under changing illumination conditions and automatic white balancing for digital cameras. A thin-plate spline interpolates over a nonuniformly sampled input space, which in this case is a training set of image thumbnails and associated illumination chromaticities. To reduce the size of the training set, incremental k medians are applied. Tests on real images demonstrate that the thin-plate spline method can estimate the color of the incident illumination quite accurately, and the proposed training set pruning significantly decreases the computation.

  10. About some properties of bivariate splines with shape parameters

    Science.gov (United States)

    Caliò, F.; Marchetti, E.

    2017-07-01

    The paper presents and proves geometrical properties of a particular bivariate function spline, built and algorithmically implemented in previous papers. The properties typical of this family of splines impact the field of computer graphics in particular that of the reverse engineering.

  11. Potentially functional SNPs (pfSNPs as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

    Directory of Open Access Journals (Sweden)

    Jingbo Wang

    Full Text Available 5-Fluorouracil (5-FU and its pro-drug Capecitabine have been widely used in treating colorectal cancer. However, not all patients will respond to the drug, hence there is a need to develop reliable early predictive biomarkers for 5-FU response. Here, we report a novel potentially functional Single Nucleotide Polymorphism (pfSNP approach to identify SNPs that may serve as predictive biomarkers of response to 5-FU in Chinese metastatic colorectal cancer (CRC patients. 1547 pfSNPs and one variable number tandem repeat (VNTR in 139 genes in 5-FU drug (both PK and PD pathway and colorectal cancer disease pathways were examined in 2 groups of CRC patients. Shrinkage of liver metastasis measured by RECIST criteria was used as the clinical end point. Four non-responder-specific pfSNPs were found to account for 37.5% of all non-responders (P<0.0003. Five additional pfSNPs were identified from a multivariate model (AUC under ROC = 0.875 that was applied for all other pfSNPs, excluding the non-responder-specific pfSNPs. These pfSNPs, which can differentiate the other non-responders from responders, mainly reside in tumor suppressor genes or genes implicated in colorectal cancer risk. Hence, a total of 9 novel SNPs with potential functional significance may be able to distinguish non-responders from responders to 5-FU. These pfSNPs may be useful biomarkers for predicting response to 5-FU.

  12. Computer simulation comparison of tripolar, bipolar, and spline Laplacian electrocadiogram estimators.

    Science.gov (United States)

    Chen, T; Besio, W; Dai, W

    2009-01-01

    A comparison of the performance of the tripolar and bipolar concentric as well as spline Laplacian electrocardiograms (LECGs) and body surface Laplacian mappings (BSLMs) for localizing and imaging the cardiac electrical activation has been investigated based on computer simulation. In the simulation a simplified eccentric heart-torso sphere-cylinder homogeneous volume conductor model were developed. Multiple dipoles with different orientations were used to simulate the underlying cardiac electrical activities. Results show that the tripolar concentric ring electrodes produce the most accurate LECG and BSLM estimation among the three estimators with the best performance in spatial resolution.

  13. Meshing Force of Misaligned Spline Coupling and the Influence on Rotor System

    Directory of Open Access Journals (Sweden)

    Guang Zhao

    2008-01-01

    Full Text Available Meshing force of misaligned spline coupling is derived, dynamic equation of rotor-spline coupling system is established based on finite element analysis, the influence of meshing force on rotor-spline coupling system is simulated by numerical integral method. According to the theoretical analysis, meshing force of spline coupling is related to coupling parameters, misalignment, transmitting torque, static misalignment, dynamic vibration displacement, and so on. The meshing force increases nonlinearly with increasing the spline thickness and static misalignment or decreasing alignment meshing distance (AMD. Stiffness of coupling relates to dynamic vibration displacement, and static misalignment is not a constant. Dynamic behaviors of rotor-spline coupling system reveal the following: 1X-rotating speed is the main response frequency of system when there is no misalignment; while 2X-rotating speed appears when misalignment is present. Moreover, when misalignment increases, vibration of the system gets intricate; shaft orbit departs from origin, and magnitudes of all frequencies increase. Research results can provide important criterions on both optimization design of spline coupling and trouble shooting of rotor systems.

  14. Adaptive B-spline volume representation of measured BRDF data for photorealistic rendering

    Directory of Open Access Journals (Sweden)

    Hyungjun Park

    2015-01-01

    Full Text Available Measured bidirectional reflectance distribution function (BRDF data have been used to represent complex interaction between lights and surface materials for photorealistic rendering. However, their massive size makes it hard to adopt them in practical rendering applications. In this paper, we propose an adaptive method for B-spline volume representation of measured BRDF data. It basically performs approximate B-spline volume lofting, which decomposes the problem into three sub-problems of multiple B-spline curve fitting along u-, v-, and w-parametric directions. Especially, it makes the efficient use of knots in the multiple B-spline curve fitting and thereby accomplishes adaptive knot placement along each parametric direction of a resulting B-spline volume. The proposed method is quite useful to realize efficient data reduction while smoothing out the noises and keeping the overall features of BRDF data well. By applying the B-spline volume models of real materials for rendering, we show that the B-spline volume models are effective in preserving the features of material appearance and are suitable for representing BRDF data.

  15. Efficient GPU-based texture interpolation using uniform B-splines

    NARCIS (Netherlands)

    Ruijters, D.; Haar Romenij, ter B.M.; Suetens, P.

    2008-01-01

    This article presents uniform B-spline interpolation, completely contained on the graphics processing unit (GPU). This implies that the CPU does not need to compute any lookup tables or B-spline basis functions. The cubic interpolation can be decomposed into several linear interpolations [Sigg and

  16. Association mapping in sunflower (Helianthus annuus L.) reveals independent control of apical vs. basal branching.

    Science.gov (United States)

    Nambeesan, Savithri U; Mandel, Jennifer R; Bowers, John E; Marek, Laura F; Ebert, Daniel; Corbi, Jonathan; Rieseberg, Loren H; Knapp, Steven J; Burke, John M

    2015-03-11

    Shoot branching is an important determinant of plant architecture and influences various aspects of growth and development. Selection on branching has also played an important role in the domestication of crop plants, including sunflower (Helianthus annuus L.). Here, we describe an investigation of the genetic basis of variation in branching in sunflower via association mapping in a diverse collection of cultivated sunflower lines. Detailed phenotypic analyses revealed extensive variation in the extent and type of branching within the focal population. After correcting for population structure and kinship, association analyses were performed using a genome-wide collection of SNPs to identify genomic regions that influence a variety of branching-related traits. This work resulted in the identification of multiple previously unidentified genomic regions that contribute to variation in branching. Genomic regions that were associated with apical and mid-apical branching were generally distinct from those associated with basal and mid-basal branching. Homologs of known branching genes from other study systems (i.e., Arabidopsis, rice, pea, and petunia) were also identified from the draft assembly of the sunflower genome and their map positions were compared to those of associations identified herein. Numerous candidate branching genes were found to map in close proximity to significant branching associations. In sunflower, variation in branching is genetically complex and overall branching patterns (i.e., apical vs. basal) were found to be influenced by distinct genomic regions. Moreover, numerous candidate branching genes mapped in close proximity to significant branching associations. Although the sunflower genome exhibits localized islands of elevated linkage disequilibrium (LD), these non-random associations are known to decay rapidly elsewhere. The subset of candidate genes that co-localized with significant associations in regions of low LD represents the most

  17. Correcting bias in the rational polynomial coefficients of satellite imagery using thin-plate smoothing splines

    Science.gov (United States)

    Shen, Xiang; Liu, Bin; Li, Qing-Quan

    2017-03-01

    The Rational Function Model (RFM) has proven to be a viable alternative to the rigorous sensor models used for geo-processing of high-resolution satellite imagery. Because of various errors in the satellite ephemeris and instrument calibration, the Rational Polynomial Coefficients (RPCs) supplied by image vendors are often not sufficiently accurate, and there is therefore a clear need to correct the systematic biases in order to meet the requirements of high-precision topographic mapping. In this paper, we propose a new RPC bias-correction method using the thin-plate spline modeling technique. Benefiting from its excellent performance and high flexibility in data fitting, the thin-plate spline model has the potential to remove complex distortions in vendor-provided RPCs, such as the errors caused by short-period orbital perturbations. The performance of the new method was evaluated by using Ziyuan-3 satellite images and was compared against the recently developed least-squares collocation approach, as well as the classical affine-transformation and quadratic-polynomial based methods. The results show that the accuracies of the thin-plate spline and the least-squares collocation approaches were better than the other two methods, which indicates that strong non-rigid deformations exist in the test data because they cannot be adequately modeled by simple polynomial-based methods. The performance of the thin-plate spline method was close to that of the least-squares collocation approach when only a few Ground Control Points (GCPs) were used, and it improved more rapidly with an increase in the number of redundant observations. In the test scenario using 21 GCPs (some of them located at the four corners of the scene), the correction residuals of the thin-plate spline method were about 36%, 37%, and 19% smaller than those of the affine transformation method, the quadratic polynomial method, and the least-squares collocation algorithm, respectively, which demonstrates

  18. Quick, “Imputation-free” meta-analysis with proxy-SNPs

    Directory of Open Access Journals (Sweden)

    Meesters Christian

    2012-09-01

    Full Text Available Abstract Background Meta-analysis (MA is widely used to pool genome-wide association studies (GWASes in order to a increase the power to detect strong or weak genotype effects or b as a result verification method. As a consequence of differing SNP panels among genotyping chips, imputation is the method of choice within GWAS consortia to avoid losing too many SNPs in a MA. YAMAS (Yet Another Meta Analysis Software, however, enables cross-GWAS conclusions prior to finished and polished imputation runs, which eventually are time-consuming. Results Here we present a fast method to avoid forfeiting SNPs present in only a subset of studies, without relying on imputation. This is accomplished by using reference linkage disequilibrium data from 1,000 Genomes/HapMap projects to find proxy-SNPs together with in-phase alleles for SNPs missing in at least one study. MA is conducted by combining association effect estimates of a SNP and those of its proxy-SNPs. Our algorithm is implemented in the MA software YAMAS. Association results from GWAS analysis applications can be used as input files for MA, tremendously speeding up MA compared to the conventional imputation approach. We show that our proxy algorithm is well-powered and yields valuable ad hoc results, possibly providing an incentive for follow-up studies. We propose our method as a quick screening step prior to imputation-based MA, as well as an additional main approach for studies without available reference data matching the ethnicities of study participants. As a proof of principle, we analyzed six dbGaP Type II Diabetes GWAS and found that the proxy algorithm clearly outperforms naïve MA on the p-value level: for 17 out of 23 we observe an improvement on the p-value level by a factor of more than two, and a maximum improvement by a factor of 2127. Conclusions YAMAS is an efficient and fast meta-analysis program which offers various methods, including conventional MA as well as inserting proxy-SNPs

  19. SPLPKG WFCMPR WFAPPX, Wilson-Fowler Spline Generator for Computer Aided Design And Manufacturing (CAD/CAM) Systems

    International Nuclear Information System (INIS)

    Fletcher, S.K.

    2002-01-01

    1 - Description of program or function: The three programs SPLPKG, WFCMPR, and WFAPPX provide the capability for interactively generating, comparing and approximating Wilson-Fowler Splines. The Wilson-Fowler spline is widely used in Computer Aided Design and Manufacturing (CAD/CAM) systems. It is favored for many applications because it produces a smooth, low curvature fit to planar data points. Program SPLPKG generates a Wilson-Fowler spline passing through given nodes (with given end conditions) and also generates a piecewise linear approximation to that spline within a user-defined tolerance. The program may be used to generate a 'desired' spline against which to compare other Splines generated by CAD/CAM systems. It may also be used to generate an acceptable approximation to a desired spline in the event that an acceptable spline cannot be generated by the receiving CAD/CAM system. SPLPKG writes an IGES file of points evaluated on the spline and/or a file containing the spline description. Program WFCMPR computes the maximum difference between two Wilson-Fowler Splines and may be used to verify the spline recomputed by a receiving system. It compares two Wilson-Fowler Splines with common nodes and reports the maximum distance between curves (measured perpendicular to segments) and the maximum difference of their tangents (or normals), both computed along the entire length of the Splines. Program WFAPPX computes the maximum difference between a Wilson- Fowler spline and a piecewise linear curve. It may be used to accept or reject a proposed approximation to a desired Wilson-Fowler spline, even if the origin of the approximation is unknown. The maximum deviation between these two curves, and the parameter value on the spline where it occurs are reported. 2 - Restrictions on the complexity of the problem - Maxima of: 1600 evaluation points (SPLPKG), 1000 evaluation points (WFAPPX), 1000 linear curve breakpoints (WFAPPX), 100 spline Nodes

  20. Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci

    DEFF Research Database (Denmark)

    Mirza, Aashiq H; Kaur, Simranjeet; Brorsson, Caroline A

    2014-01-01

    -nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) lie outside of the protein coding regions, and map to the non-coding intervals. However, the relationship between phenotype-associated loci and the non-coding regions including the long non-coding RNAs (lncRNAs) is poorly understood. Here......, we systemically identified all annotated IBD and T1D loci-associated lncRNAs, and mapped nominally significant GWAS/ImmunoChip SNPs for IBD and T1D within these lncRNAs. Additionally, we identified tissue-specific cis-eQTLs, and strong linkage disequilibrium (LD) signals associated with these SNPs...... within and in close proximity (+/-5 kb flanking regions) of IBD and T1D loci-associated candidate genes, suggesting that these RNA conformation-altering polymorphisms might be associated with diseased-phenotype. Disruption of lncRNA secondary structure due to presence of GWAS SNPs provides valuable...

  1. Optimal Design of Low-Density SNP Arrays for Genomic Prediction: Algorithm and Applications.

    Directory of Open Access Journals (Sweden)

    Xiao-Lin Wu

    Full Text Available Low-density (LD single nucleotide polymorphism (SNP arrays provide a cost-effective solution for genomic prediction and selection, but algorithms and computational tools are needed for the optimal design of LD SNP chips. A multiple-objective, local optimization (MOLO algorithm was developed for design of optimal LD SNP chips that can be imputed accurately to medium-density (MD or high-density (HD SNP genotypes for genomic prediction. The objective function facilitates maximization of non-gap map length and system information for the SNP chip, and the latter is computed either as locus-averaged (LASE or haplotype-averaged Shannon entropy (HASE and adjusted for uniformity of the SNP distribution. HASE performed better than LASE with ≤1,000 SNPs, but required considerably more computing time. Nevertheless, the differences diminished when >5,000 SNPs were selected. Optimization was accomplished conditionally on the presence of SNPs that were obligated to each chromosome. The frame location of SNPs on a chip can be either uniform (evenly spaced or non-uniform. For the latter design, a tunable empirical Beta distribution was used to guide location distribution of frame SNPs such that both ends of each chromosome were enriched with SNPs. The SNP distribution on each chromosome was finalized through the objective function that was locally and empirically maximized. This MOLO algorithm was capable of selecting a set of approximately evenly-spaced and highly-informative SNPs, which in turn led to increased imputation accuracy compared with selection solely of evenly-spaced SNPs. Imputation accuracy increased with LD chip size, and imputation error rate was extremely low for chips with ≥3,000 SNPs. Assuming that genotyping or imputation error occurs at random, imputation error rate can be viewed as the upper limit for genomic prediction error. Our results show that about 25% of imputation error rate was propagated to genomic prediction in an Angus

  2. A comparison between genotyping-by-sequencing and array-based scoring of SNPs for genomic prediction accuracy in winter wheat.

    Science.gov (United States)

    Elbasyoni, Ibrahim S; Lorenz, A J; Guttieri, M; Frels, K; Baenziger, P S; Poland, J; Akhunov, E

    2018-05-01

    The utilization of DNA molecular markers in plant breeding to maximize selection response via marker-assisted selection (MAS) and genomic selection (GS) has revolutionized plant breeding. A key factor affecting GS applicability is the choice of molecular marker platform. Genotyping-by-sequencing scored SNPs (GBS-scored SNPs) provides a large number of markers, albeit with high rates of missing data. Array scored SNPs are of high quality, but the cost per sample is substantially higher. The objectives of this study were 1) compare GBS-scored SNPs, and array scored SNPs for genomic selection applications, and 2) compare estimates of genomic kinship and population structure calculated using the two marker platforms. SNPs were compared in a diversity panel consisting of 299 hard winter wheat (Triticum aestivum L.) accessions that were part of a multi-year, multi-environments association mapping study. The panel was phenotyped in Ithaca, Nebraska for heading date, plant height, days to physiological maturity and grain yield in 2012 and 2013. The panel was genotyped using GBS-scored SNPs, and array scored SNPs. Results indicate that GBS-scored SNPs is comparable to or better than Array-scored SNPs for genomic prediction application. Both platforms identified the same genetic patterns in the panel where 90% of the lines were classified to common genetic groups. Overall, we concluded that GBS-scored SNPs have the potential to be the marker platform of choice for genetic diversity and genomic selection in winter wheat. Copyright © 2018 Elsevier B.V. All rights reserved.

  3. Exponential B-splines and the partition of unity property

    DEFF Research Database (Denmark)

    Christensen, Ole; Massopust, Peter

    2012-01-01

    We provide an explicit formula for a large class of exponential B-splines. Also, we characterize the cases where the integer-translates of an exponential B-spline form a partition of unity up to a multiplicative constant. As an application of this result we construct explicitly given pairs of dual...

  4. Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps.

    Science.gov (United States)

    Zhang, Weihua; Collins, Andrew; Gibson, Jane; Tapper, William J; Hunt, Sarah; Deloukas, Panos; Bentley, David R; Morton, Newton E

    2004-12-28

    Genetic maps in linkage disequilibrium (LD) units play the same role for association mapping as maps in centimorgans provide at much lower resolution for linkage mapping. Association mapping of genes determining disease susceptibility and other phenotypes is based on the theory of LD, here applied to relations with three phenomena. To test the theory, markers at high density along a 10-Mb continuous segment of chromosome 20q were studied in African-American, Asian, and Caucasian samples. Population structure, whether created by pooling samples from divergent populations or by the mating pattern in a mixed population, is accurately bioassayed from genotype frequencies. The effective bottleneck time for Eurasians is substantially less than for migration out of Africa, reflecting later bottlenecks. The classical dependence of allele frequency on mutation age does not hold for the generally shorter time span of inbreeding and LD. Limitation of the classical theory to mutation age justifies the assumption of constant time in a LD map, except for alleles that were rare at the effective bottleneck time or have arisen since. This assumption is derived from the Malecot model and verified in all samples. Tested measures of relative efficiency, support intervals, and localization error determine the operating characteristics of LD maps that are applicable to every sexually reproducing species, with implications for association mapping, high-resolution linkage maps, evolutionary inference, and identification of recombinogenic sequences.

  5. Shape Preserving Interpolation Using C2 Rational Cubic Spline

    Directory of Open Access Journals (Sweden)

    Samsul Ariffin Abdul Karim

    2016-01-01

    Full Text Available This paper discusses the construction of new C2 rational cubic spline interpolant with cubic numerator and quadratic denominator. The idea has been extended to shape preserving interpolation for positive data using the constructed rational cubic spline interpolation. The rational cubic spline has three parameters αi, βi, and γi. The sufficient conditions for the positivity are derived on one parameter γi while the other two parameters αi and βi are free parameters that can be used to change the final shape of the resulting interpolating curves. This will enable the user to produce many varieties of the positive interpolating curves. Cubic spline interpolation with C2 continuity is not able to preserve the shape of the positive data. Notably our scheme is easy to use and does not require knots insertion and C2 continuity can be achieved by solving tridiagonal systems of linear equations for the unknown first derivatives di, i=1,…,n-1. Comparisons with existing schemes also have been done in detail. From all presented numerical results the new C2 rational cubic spline gives very smooth interpolating curves compared to some established rational cubic schemes. An error analysis when the function to be interpolated is ft∈C3t0,tn is also investigated in detail.

  6. A new class of interpolatory $L$-splines with adjoint end conditions

    OpenAIRE

    Bejancu, Aurelian; Al-Sahli, Reyouf S.

    2014-01-01

    A thin plate spline surface for interpolation of smooth transfinite data prescribed along concentric circles was recently proposed by Bejancu, using Kounchev's polyspline method. The construction of the new `Beppo Levi polyspline' surface reduces, via separation of variables, to that of a countable family of univariate $L$-splines, indexed by the frequency integer $k$. This paper establishes the existence, uniqueness and variational properties of the `Beppo Levi $L$-spline' schemes correspond...

  7. Improving Test-Taking Skills of LD Adolescents.

    Science.gov (United States)

    Markel, Geraldine

    1981-01-01

    A multicomponent model to improve test taking skills of learning disabled (LD) adolescents is proposed to encourage anxiety management, problem solving skills, assertiveness, study skills, and student confidence and control. The role of the LD consultant in this process is described. (CL)

  8. Perbandingan Pemberian Brodifakum Ld50 Dan Ld100 Terhadap Perubahan Gambaran Histopatologi Usus Halus Tikus Wistar

    OpenAIRE

    Al Ayoubi, Alfian Salahudin; Dhanardhono, Tuntas; Bhima, Sigit Kirana Lintang

    2016-01-01

    Background : Brodifacoum is an anticoagulant substance which usually used as pest control, but this substance has a poisoning effect the body. Brodifacoum is absorbed through gastrointestinal tract which can cause the disorder of blod clotting by slowing down the process of epoxide reductase of vitamin-K.Aim : To know the comparison of Histopathology Rattus norvegicus Intestine against brodifacoum administration LD50 and LD100.Methods :This study was an experimental study with post test only ...

  9. Graphic organizers and their effects on the reading comprehension of students with LD: a synthesis of research.

    Science.gov (United States)

    Kim, Ae-Hwa; Vaughn, Sharon; Wanzek, Jeanne; Wei, Shangjin

    2004-01-01

    Previous research studies examining the effects of graphic organizers on reading comprehension for students with learning disabilities (LD) are reviewed. An extensive search of the professional literature between 1963 and June 2001 yielded a total of 21 group design intervention studies that met the criteria for inclusion in the synthesis. Using graphic organizers (i.e., semantic organizers, framed outlines, cognitive maps with and without a mnemonic) was associated with improved reading comprehension overall for students with LD. Compared to standardized reading measures, researcher-developed comprehension measures were associated with higher effect sizes. Initial gains demonstrated when using graphic organizers were not revealed during later comprehension tasks or on new comprehension tasks.

  10. Comparison Between Polynomial, Euler Beta-Function and Expo-Rational B-Spline Bases

    Science.gov (United States)

    Kristoffersen, Arnt R.; Dechevsky, Lubomir T.; Laksa˚, Arne; Bang, Børre

    2011-12-01

    Euler Beta-function B-splines (BFBS) are the practically most important instance of generalized expo-rational B-splines (GERBS) which are not true expo-rational B-splines (ERBS). BFBS do not enjoy the full range of the superproperties of ERBS but, while ERBS are special functions computable by a very rapidly converging yet approximate numerical quadrature algorithms, BFBS are explicitly computable piecewise polynomial (for integer multiplicities), similar to classical Schoenberg B-splines. In the present communication we define, compute and visualize for the first time all possible BFBS of degree up to 3 which provide Hermite interpolation in three consecutive knots of multiplicity up to 3, i.e., the function is being interpolated together with its derivatives of order up to 2. We compare the BFBS obtained for different degrees and multiplicities among themselves and versus the classical Schoenberg polynomial B-splines and the true ERBS for the considered knots. The results of the graphical comparison are discussed from analytical point of view. For the numerical computation and visualization of the new B-splines we have used Maple 12.

  11. Integration of association statistics over genomic regions using Bayesian adaptive regression splines

    Directory of Open Access Journals (Sweden)

    Zhang Xiaohua

    2003-11-01

    Full Text Available Abstract In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their relationship to disease status. It is still debatable which of these approaches is more favourable, and under what conditions. The former has the advantage of simplicity but suffers severely when alleles at the tested loci are not in linkage disequilibrium (LD with liability alleles; the latter should capture more of the signal encoded in LD, but is far from simple. The complexity of haplotype analysis could be especially troublesome for association scans over large genomic regions, which, in fact, is becoming the standard design. For these reasons, the authors have been evaluating statistical methods that bridge the gap between single-locus and haplotype-based tests. In this article, they present one such method, which uses non-parametric regression techniques embodied by Bayesian adaptive regression splines (BARS. For a set of markers falling within a common genomic region and a corresponding set of single-locus association statistics, the BARS procedure integrates these results into a single test by examining the class of smooth curves consistent with the data. The non-parametric BARS procedure generally finds no signal when no liability allele exists in the tested region (ie it achieves the specified size of the test and it is sensitive enough to pick up signals when a liability allele is present. The BARS procedure provides a robust and potentially powerful alternative to classical tests of association, diminishes the multiple testing problem inherent in those tests and can be applied to a wide range of data types, including genotype frequencies estimated from pooled samples.

  12. Universal LD50 predictions using deep learning

    Science.gov (United States)

    NICEATM Predictive Models for Acute Oral Systemic Toxicity LD50 entry Risa R. Sayre (sayre.risa@epa.gov) & Christopher M. Grulke Our approach uses an ensemble of multilayer perceptron regressions to predict rat acute oral LD50 values from chemical features. Features were genera...

  13. Comparative Analysis for Robust Penalized Spline Smoothing Methods

    Directory of Open Access Journals (Sweden)

    Bin Wang

    2014-01-01

    Full Text Available Smoothing noisy data is commonly encountered in engineering domain, and currently robust penalized regression spline models are perceived to be the most promising methods for coping with this issue, due to their flexibilities in capturing the nonlinear trends in the data and effectively alleviating the disturbance from the outliers. Against such a background, this paper conducts a thoroughly comparative analysis of two popular robust smoothing techniques, the M-type estimator and S-estimation for penalized regression splines, both of which are reelaborated starting from their origins, with their derivation process reformulated and the corresponding algorithms reorganized under a unified framework. Performances of these two estimators are thoroughly evaluated from the aspects of fitting accuracy, robustness, and execution time upon the MATLAB platform. Elaborately comparative experiments demonstrate that robust penalized spline smoothing methods possess the capability of resistance to the noise effect compared with the nonrobust penalized LS spline regression method. Furthermore, the M-estimator exerts stable performance only for the observations with moderate perturbation error, whereas the S-estimator behaves fairly well even for heavily contaminated observations, but consuming more execution time. These findings can be served as guidance to the selection of appropriate approach for smoothing the noisy data.

  14. Bayesian Analysis for Penalized Spline Regression Using WinBUGS

    Directory of Open Access Journals (Sweden)

    Ciprian M. Crainiceanu

    2005-09-01

    Full Text Available Penalized splines can be viewed as BLUPs in a mixed model framework, which allows the use of mixed model software for smoothing. Thus, software originally developed for Bayesian analysis of mixed models can be used for penalized spline regression. Bayesian inference for nonparametric models enjoys the flexibility of nonparametric models and the exact inference provided by the Bayesian inferential machinery. This paper provides a simple, yet comprehensive, set of programs for the implementation of nonparametric Bayesian analysis in WinBUGS. Good mixing properties of the MCMC chains are obtained by using low-rank thin-plate splines, while simulation times per iteration are reduced employing WinBUGS specific computational tricks.

  15. P-Splines Using Derivative Information

    KAUST Repository

    Calderon, Christopher P.; Martinez, Josue G.; Carroll, Raymond J.; Sorensen, Danny C.

    2010-01-01

    in quantitatively summarizing such data. In this work, functions estimated using P-splines are associated with stochastic differential equations (SDEs). It is shown how quantities estimated in a single SDE summarize fast-scale phenomena, whereas variation between

  16. Design Evaluation of Wind Turbine Spline Couplings Using an Analytical Model: Preprint

    Energy Technology Data Exchange (ETDEWEB)

    Guo, Y.; Keller, J.; Wallen, R.; Errichello, R.; Halse, C.; Lambert, S.

    2015-02-01

    Articulated splines are commonly used in the planetary stage of wind turbine gearboxes for transmitting the driving torque and improving load sharing. Direct measurement of spline loads and performance is extremely challenging because of limited accessibility. This paper presents an analytical model for the analysis of articulated spline coupling designs. For a given torque and shaft misalignment, this analytical model quickly yields insights into relationships between the spline design parameters and resulting loads; bending, contact, and shear stresses; and safety factors considering various heat treatment methods. Comparisons of this analytical model against previously published computational approaches are also presented.

  17. Statistical analysis of sediment toxicity by additive monotone regression splines

    NARCIS (Netherlands)

    Boer, de W.J.; Besten, den P.J.; Braak, ter C.J.F.

    2002-01-01

    Modeling nonlinearity and thresholds in dose-effect relations is a major challenge, particularly in noisy data sets. Here we show the utility of nonlinear regression with additive monotone regression splines. These splines lead almost automatically to the estimation of thresholds. We applied this

  18. Perbandingan Pemberian Brodifakum Ld50 Dan Ld100 Terhadap Perubahan Gambaran Patologi Anatomi Gaster Tikus Wistar

    OpenAIRE

    Renardi P., Ricky; Dhanardhono, Tuntas; Bhima, Sigit Kirana Lintang

    2015-01-01

    Background : Brodifakum is a substance that often used as rat poison and disrupt the process of blood coagulation.As a result of this disorder can cause bleeding in vital organs of rat. This study was conducted to assess the gastric anatomic pathology due to Brodifakum. Aim : To know the comparison of Anatomical Pathology Rattus norvegicus Gastric againstbrodifacoum administration LD50 and LD100.Methods :This study was an experimental study with post test only group design. The sample of this...

  19. Curve fitting and modeling with splines using statistical variable selection techniques

    Science.gov (United States)

    Smith, P. L.

    1982-01-01

    The successful application of statistical variable selection techniques to fit splines is demonstrated. Major emphasis is given to knot selection, but order determination is also discussed. Two FORTRAN backward elimination programs, using the B-spline basis, were developed. The program for knot elimination is compared in detail with two other spline-fitting methods and several statistical software packages. An example is also given for the two-variable case using a tensor product basis, with a theoretical discussion of the difficulties of their use.

  20. Splines and their reciprocal-bases in volume-integral equations

    International Nuclear Information System (INIS)

    Sabbagh, H.A.

    1993-01-01

    The authors briefly outline the use of higher-order splines and their reciprocal-bases in discretizing the volume-integral equations of electromagnetics. The discretization is carried out by means of the method of moments, in which the expansion functions are the higher-order splines, and the testing functions are the corresponding reciprocal-basis functions. These functions satisfy an orthogonality condition with respect to the spline expansion functions. Thus, the method is not Galerkin, but the structure of the resulting equations is quite regular, nevertheless. The theory is applied to the volume-integral equations for the unknown current density, or unknown electric field, within a scattering body, and to the equations for eddy-current nondestructive evaluation. Numerical techniques for computing the matrix elements are also given

  1. LD, interpersonal understanding, and social behavior in the classroom.

    Science.gov (United States)

    Kravetz, S; Faust, M; Lipshitz, S; Shalhav, S

    1999-01-01

    This study used Baron and Kenny's (1986) criteria for mediation to investigate the extent to which interpersonal understanding mediates the relation between learning disabilities (LD) and social adaptation in the classroom. Twenty-two children with and 22 children without a diagnosis of LD completed a semistructured developmental clinical interview measure of interpersonal understanding. They were also rated by their fourth- and fifth-grade teachers on a measure of social adaptation in the classroom. Interpersonal understanding and social adaptation in the classroom were found to be positively correlated. Children with LD exhibited less interpersonal understanding and social adaptation. Although this group difference on social adaptation was greatly reduced when interpersonal understanding was statistically controlled, it remained statistically significant. These results suggest that reduced social adaptation in the classroom and lower interpersonal understanding are both associated with a diagnosis of LD. However, they do not conclusively support the claim that interpersonal understanding mediates the relation between LD and social adaptation. Thus, whether the social difficulties of people with LD stem from the same complex phenomena that produce these people's learning problems remains an open question.

  2. Point based interactive image segmentation using multiquadrics splines

    Science.gov (United States)

    Meena, Sachin; Duraisamy, Prakash; Palniappan, Kannappan; Seetharaman, Guna

    2017-05-01

    Multiquadrics (MQ) are radial basis spline function that can provide an efficient interpolation of data points located in a high dimensional space. MQ were developed by Hardy to approximate geographical surfaces and terrain modelling. In this paper we frame the task of interactive image segmentation as a semi-supervised interpolation where an interpolating function learned from the user provided seed points is used to predict the labels of unlabeled pixel and the spline function used in the semi-supervised interpolation is MQ. This semi-supervised interpolation framework has a nice closed form solution which along with the fact that MQ is a radial basis spline function lead to a very fast interactive image segmentation process. Quantitative and qualitative results on the standard datasets show that MQ outperforms other regression based methods, GEBS, Ridge Regression and Logistic Regression, and popular methods like Graph Cut,4 Random Walk and Random Forest.6

  3. RTEL1 tagging SNPs and haplotypes were associated with glioma development.

    Science.gov (United States)

    Li, Gang; Jin, Tianbo; Liang, Hongjuan; Zhang, Zhiguo; He, Shiming; Tu, Yanyang; Yang, Haixia; Geng, Tingting; Cui, Guangbin; Chen, Chao; Gao, Guodong

    2013-05-17

    As glioma ranks as the first most prevalent solid tumors in primary central nervous system, certain single-nucleotide polymorphisms (SNPs) may be related to increased glioma risk, and have implications in carcinogenesis. The present case-control study was carried out to elucidate how common variants contribute to glioma susceptibility. Ten candidate tagging SNPs (tSNPs) were selected from seven genes whose polymorphisms have been proven by classical literatures and reliable databases to be tended to relate with gliomas, and with the minor allele frequency (MAF)>5% in the HapMap Asian population. The selected tSNPs were genotyped in 629 glioma patients and 645 controls from a Han Chinese population using the multiplexed SNP MassEXTEND assay calibrated. Two significant tSNPs in RTEL1 gene were observed to be associated with glioma risk (rs6010620, P=0.0016, OR: 1.32, 95% CI: 1.11-1.56; rs2297440, P=0.001, OR: 1.33, 95% CI: 1.12-1.58) by χ2 test. It was identified the genotype "GG" of rs6010620 acted as the protective genotype for glioma (OR, 0.46; 95% CI, 0.31-0.7; P=0.0002), while the genotype "CC" of rs2297440 as the protective genotype in glioma (OR, 0.47; 95% CI, 0.31-0.71; P=0.0003). Furthermore, haplotype "GCT" in RTEL1 gene was found to be associated with risk of glioma (OR, 0.7; 95% CI, 0.57-0.86; Fisher's P=0.0005; Pearson's P=0.0005), and haplotype "ATT" was detected to be associated with risk of glioma (OR, 1.32; 95% CI, 1.12-1.57; Fisher's P=0.0013; Pearson's P=0.0013). Two single variants, the genotypes of "GG" of rs6010620 and "CC" of rs2297440 (rs6010620 and rs2297440) in the RTEL1 gene, together with two haplotypes of GCT and ATT, were identified to be associated with glioma development. And it might be used to evaluate the glioma development risks to screen the above RTEL1 tagging SNPs and haplotypes. The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1993021136961998.

  4. A spectral/B-spline method for the Navier-Stokes equations in unbounded domains

    International Nuclear Information System (INIS)

    Dufresne, L.; Dumas, G.

    2003-01-01

    The numerical method presented in this paper aims at solving the incompressible Navier-Stokes equations in unbounded domains. The problem is formulated in cylindrical coordinates and the method is based on a Galerkin approximation scheme that makes use of vector expansions that exactly satisfy the continuity constraint. More specifically, the divergence-free basis vector functions are constructed with Fourier expansions in the θ and z directions while mapped B-splines are used in the semi-infinite radial direction. Special care has been taken to account for the particular analytical behaviors at both end points r=0 and r→∞. A modal reduction algorithm has also been implemented in the azimuthal direction, allowing for a relaxation of the CFL constraint on the timestep size and a possibly significant reduction of the number of DOF. The time marching is carried out using a mixed quasi-third order scheme. Besides the advantages of a divergence-free formulation and a quasi-spectral convergence, the local character of the B-splines allows for a great flexibility in node positioning while keeping narrow bandwidth matrices. Numerical tests show that the present method compares advantageously with other similar methodologies using purely global expansions

  5. LD pumped Nd: YLF amplification technology

    International Nuclear Information System (INIS)

    Qin Xingwu; Li Mingzhong; Luo Yiming; Sui Zhan; Ding Lei; Liang Yue; Zhao Runchang; Chen Lianming

    2003-01-01

    A Ring-LD-pumped Nd: YLF laser amplifier system is theoretically and experimentally discussed. A structure of off-axes double passes amplifier is used. The results of experiment shown that 109 mJ output energy with a net gain of 1115 is obtained under 150 μJ input energy; a compact side-pumped structure is used to obtain a high transferring efficiency of LD array, 1.01 J output energy is achieved at 1053 nm. (authors)

  6. Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China

    Directory of Open Access Journals (Sweden)

    Xuanqiu He

    2014-01-01

    Full Text Available The specific mechanism by which low-risk genetic variants confer breast cancer risk is currently unclear, with contradictory evidence on the role of single nucleotide polymorphisms (SNPs in TOX3/LOC643714 as a breast cancer susceptibility locus. Investigations of this locus using a Chinese population may indicate whether the findings initially identified in a European population are generalizable to other populations, and may provide new insight into the role of genetic variants in the etiology of breast cancer. In this case-control study, 623 Chinese female breast cancer patients and 620 cancer-free controls were recruited to investigate the role of five SNPs in TOX3/LOC643714 (rs8051542, rs12443621, rs3803662, rs4784227, and rs3112612; Linkage disequilibrium (LD pattern analysis was performed. Additionally, we evaluated how these common SNPs influence the risk of specific types of breast cancer, as defined by estrogen receptor (ER status, progesterone receptor (PR status and human epidermal growth factor receptor 2 (HER2 status. Significant associations with breast cancer risk were observed for rs4784227 and rs8051542 with odds ratios (OR of 1.31 ((95% confidence intervals (CI, 1.10–1.57 and 1.26 (95% CI, 1.02–1.56, respectively, per T allele. The T-rs8051542 allele was significantly associated with ER-positive and HER2-negative carriers. No significant association existed between rs12443621, rs3803662, and rs3112612 polymorphisms and risk of breast cancer. Our results support the hypothesis that the applicability of a common susceptibility locus must be confirmed among genetically different populations, which may together explain an appreciable fraction of the genetic etiology of breast cancer.

  7. Fast compact algorithms and software for spline smoothing

    CERN Document Server

    Weinert, Howard L

    2012-01-01

    Fast Compact Algorithms and Software for Spline Smoothing investigates algorithmic alternatives for computing cubic smoothing splines when the amount of smoothing is determined automatically by minimizing the generalized cross-validation score. These algorithms are based on Cholesky factorization, QR factorization, or the fast Fourier transform. All algorithms are implemented in MATLAB and are compared based on speed, memory use, and accuracy. An overall best algorithm is identified, which allows very large data sets to be processed quickly on a personal computer.

  8. Evidence of Stage- and Age-Related Heterogeneity of Non-HLA SNPs and Risk of Islet Autoimmunity and Type 1 Diabetes: The Diabetes Autoimmunity Study in the Young

    Directory of Open Access Journals (Sweden)

    Brittni N. Frederiksen

    2013-01-01

    Full Text Available Previously, we examined 20 non-HLA SNPs for association with islet autoimmunity (IA and/or progression to type 1 diabetes (T1D. Our objective was to investigate fourteen additional non-HLA T1D candidate SNPs for stage- and age-related heterogeneity in the etiology of T1D. Of 1634 non-Hispanic white DAISY children genotyped, 132 developed IA (positive for GAD, insulin, or IA-2 autoantibodies at two or more consecutive visits; 50 IA positive children progressed to T1D. Cox regression was used to analyze risk of IA and progression to T1D in IA positive children. Restricted cubic splines were used to model SNPs when there was evidence that risk was not constant with age. C1QTNF6 (rs229541 predicted increased IA risk (HR: 1.57, CI: 1.20–2.05 but not progression to T1D (HR: 1.13, CI: 0.75–1.71. SNP (rs10517086 appears to exhibit an age-related effect on risk of IA, with increased risk before age 2 years (age 2 HR: 1.67, CI: 1.08–2.56 but not older ages (age 4 HR: 0.84, CI: 0.43–1.62. C1QTNF6 (rs229541, SNP (rs10517086, and UBASH3A (rs3788013 were associated with development of T1D. This prospective investigation of non-HLA T1D candidate loci shows that some SNPs may exhibit stage- and age-related heterogeneity in the etiology of T1D.

  9. Construction of the High-Density Genetic Linkage Map and Chromosome Map of Large Yellow Croaker (Larimichthys crocea

    Directory of Open Access Journals (Sweden)

    Jingqun Ao

    2015-11-01

    Full Text Available High-density genetic maps are essential for genome assembly, comparative genomic analysis and fine mapping of complex traits. In this study, 31,191 single nucleotide polymorphisms (SNPs evenly distributed across the large yellow croaker (Larimichthys crocea genome were identified using restriction-site associated DNA sequencing (RAD-seq. Among them, 10,150 high-confidence SNPs were assigned to 24 consensus linkage groups (LGs. The total length of the genetic linkage map was 5451.3 cM with an average distance of 0.54 cM between loci. This represents the densest genetic map currently reported for large yellow croaker. Using 2889 SNPs to target specific scaffolds, we assigned 533 scaffolds, comprising 421.44 Mb (62.04% of the large yellow croaker assembled sequence, to the 24 linkage groups. The mapped assembly scaffolds in large yellow croaker were used for genome synteny analyses against the stickleback (Gasterosteus aculeatus and medaka (Oryzias latipes. Greater synteny was observed between large yellow croaker and stickleback. This supports the hypothesis that large yellow croaker is more closely related to stickleback than to medaka. Moreover, 1274 immunity-related genes and 195 hypoxia-related genes were mapped to the 24 chromosomes of large yellow croaker. The integration of the high-resolution genetic map and the assembled sequence provides a valuable resource for fine mapping and positional cloning of quantitative trait loci associated with economically important traits in large yellow croaker.

  10. IAS 39 og konverterbar gæld

    DEFF Research Database (Denmark)

    Fredslund Møller, Peder; Thinggaard, Frank

    , at der er en betydelig beholdning af konverterbare realkreditlån, som der skal aflægges regnskab for. Denne artikel har til formål at belyse de alternativer, der findes i IAS39 til regnskabsmæssig behandling af konverterbar gæld. I juli 2008 kom der en tilføjelse til IAS 39, "Eligible Hedged Items". Den......: 1. dagsværdimetode, hvor "hele det konverterbare lån", dvs. både den "rene gæld" og den indbyggede indfrielsesoption, der iflg. IAS 39 udgør de to komponenter i et konverterbart lån, føres til dagsværdi, 2. udskillelsesmetode, hvor der anvendes amortiseret kostpris for den "rene gæld" og dagsværdi...

  11. Final report on Production Test No. 105-245-P -- Effectiveness of cadmium coated splines

    Energy Technology Data Exchange (ETDEWEB)

    Carson, A.B.

    1949-05-19

    This report discussed cadmium coated splines which have been developed to supplement the regular control rod systems under emergency shutdown conditions from higher power levels. The objective of this test was to determine the effectiveness of one such spline placed in a tube in the central zone of a pile, and of two splines in the same tube. In addition, the process control group of the P Division asked that probable spline requirements for safe operation at various power levels be estimated, and the details included in this report. The results of the test indicated a reactivity value of 10.5 {plus_minus} 1.0 ih for a single spline, and 19.0 ih {plus_minus} 1.0 ihfor two splines in tube 1674-B under the loading conditions of 4-27-49, the date of the test. The temperature rise of the cooling water for this tube under these conditions was found to be 37.2{degrees}C for 275 MW operation.

  12. The Social Acceptance of Secondary School Students with Learning Disabilities (LD

    Directory of Open Access Journals (Sweden)

    Teja Lorger

    2015-06-01

    Full Text Available This paper aims to shed light on the level of social acceptance among students with learning disabilities (LD in various secondary school vocational programs in comparison with their peers without disabilities. Our findings are based on an empirical study that comprised 417 students, of whom 85 were students with LD. Based on sociometric analyses of all participating classes, we determined that students with LD were less integrated into the classroom in comparison to their peers without LD. The results of the sociometric analysis show statistically significant differences in the sociometric position between students with LD and students without LD. While students with LD were most frequently perceived as rejected, students without LD were seen as popular or average. In addition, students with LD see themselves as less socially self-efficient compared to their peers. The results of our study mostly refer to boys, because the sample comprised 359 boys and 58 girls. We believe that pro-inclusion teachers with appropriately developed strategies for strengthening students’ social skills, as well as positive attitudes and sufficient knowledge about the special needs of students can have a significant impact on the social acceptance of students with special needs in the classroom community.

  13. Space cutter compensation method for five-axis nonuniform rational basis spline machining

    Directory of Open Access Journals (Sweden)

    Yanyu Ding

    2015-07-01

    Full Text Available In view of the good machining performance of traditional three-axis nonuniform rational basis spline interpolation and the space cutter compensation issue in multi-axis machining, this article presents a triple nonuniform rational basis spline five-axis interpolation method, which uses three nonuniform rational basis spline curves to describe cutter center location, cutter axis vector, and cutter contact point trajectory, respectively. The relative position of the cutter and workpiece is calculated under the workpiece coordinate system, and the cutter machining trajectory can be described precisely and smoothly using this method. The three nonuniform rational basis spline curves are transformed into a 12-dimentional Bézier curve to carry out discretization during the discrete process. With the cutter contact point trajectory as the precision control condition, the discretization is fast. As for different cutters and corners, the complete description method of space cutter compensation vector is presented in this article. Finally, the five-axis nonuniform rational basis spline machining method is further verified in a two-turntable five-axis machine.

  14. Gearbox Reliability Collaborative Analytic Formulation for the Evaluation of Spline Couplings

    Energy Technology Data Exchange (ETDEWEB)

    Guo, Yi [National Renewable Energy Lab. (NREL), Golden, CO (United States); Keller, Jonathan [National Renewable Energy Lab. (NREL), Golden, CO (United States); Errichello, Robert [GEARTECH, Houston, TX (United States); Halse, Chris [Romax Technology, Nottingham (United Kingdom)

    2013-12-01

    Gearboxes in wind turbines have not been achieving their expected design life; however, they commonly meet and exceed the design criteria specified in current standards in the gear, bearing, and wind turbine industry as well as third-party certification criteria. The cost of gearbox replacements and rebuilds, as well as the down time associated with these failures, has elevated the cost of wind energy. The National Renewable Energy Laboratory (NREL) Gearbox Reliability Collaborative (GRC) was established by the U.S. Department of Energy in 2006; its key goal is to understand the root causes of premature gearbox failures and improve their reliability using a combined approach of dynamometer testing, field testing, and modeling. As part of the GRC program, this paper investigates the design of the spline coupling often used in modern wind turbine gearboxes to connect the planetary and helical gear stages. Aside from transmitting the driving torque, another common function of the spline coupling is to allow the sun to float between the planets. The amount the sun can float is determined by the spline design and the sun shaft flexibility subject to the operational loads. Current standards address spline coupling design requirements in varying detail. This report provides additional insight beyond these current standards to quickly evaluate spline coupling designs.

  15. Development of a SNP resource and a genetic linkage map for Atlantic cod (Gadus morhua

    Directory of Open Access Journals (Sweden)

    Higgins Brent

    2010-03-01

    Full Text Available Abstract Background Atlantic cod (Gadus morhua is a species with increasing economic significance for the aquaculture industry. The genetic improvement of cod will play a critical role in achieving successful large-scale aquaculture. While many microsatellite markers have been developed in cod, the number of single nucleotide polymorphisms (SNPs is currently limited. Here we report the identification of SNPs from sequence data generated by a large-scale expressed sequence tag (EST program, focusing on fish originating from Canadian waters. Results A total of 97976 ESTs were assembled to generate 13448 contigs. We detected 4753 SNPs that met our selection criteria (depth of coverage ≥ 4 reads; minor allele frequency > 25%. 3072 SNPs were selected for testing. The percentage of successful assays was 75%, with 2291 SNPs amplifying correctly. Of these, 607 (26% SNPs were monomorphic for all populations tested. In total, 64 (4% of SNPs are likely to represent duplicated genes or highly similar members of gene families, rather than alternative alleles of the same gene, since they showed a high frequency of heterozygosity. The remaining polymorphic SNPs (1620 were categorised as validated SNPs. The mean minor allele frequency of the validated loci was 0.258 (± 0.141. Of the 1514 contigs from which validated SNPs were selected, 31% have a significant blast hit. For the SNPs predicted to occur in coding regions (141, we determined that 36% (51 are non-synonymous. Many loci (1033 SNPs; 64% are polymorphic in all populations tested. However a small number of SNPs (184 that are polymorphic in the Western Atlantic were monomorphic in fish tested from three European populations. A preliminary linkage map has been constructed with 23 major linkage groups and 924 mapped SNPs. Conclusions These SNPs represent powerful tools to accelerate the genetic improvement of cod aquaculture. They have been used to build a genetic linkage map that can be applied to

  16. Effects of red and blue LD lights on the growth of lettuce

    International Nuclear Information System (INIS)

    Mori, Y.; Takatsuji, M.; Yasuoka, T.

    2003-01-01

    In this study, Lactuca sativa L. cv. “Red Fire” was cultivated under visible laser diodes (LD) light alone, using red and blue LD for digital versatile discs (DVD). Relative growth rate, photosynthetic rate and vitamin C content were measured, and compared with those obtained using light emitting diodes (LED). When the lettuce was cultivated under LD light, the relative growth rate and net photosynthetic rate were decreased compared to those under LED light. The rates were decreased by 10% and 20% or more under red LD light and under a combination of red and blue LD lights, respectively. However, the vitamin C content was higher when grown under LD light than LED light. Considering the high output and high electrical-to-optical power conversion efficiency of LD, LD are potential light sources for plant cultivation when their prices decrease

  17. Acoustic Emission Signatures of Fatigue Damage in Idealized Bevel Gear Spline for Localized Sensing

    Directory of Open Access Journals (Sweden)

    Lu Zhang

    2017-06-01

    Full Text Available In many rotating machinery applications, such as helicopters, the splines of an externally-splined steel shaft that emerges from the gearbox engage with the reverse geometry of an internally splined driven shaft for the delivery of power. The splined section of the shaft is a critical and non-redundant element which is prone to cracking due to complex loading conditions. Thus, early detection of flaws is required to prevent catastrophic failures. The acoustic emission (AE method is a direct way of detecting such active flaws, but its application to detect flaws in a splined shaft in a gearbox is difficult due to the interference of background noise and uncertainty about the effects of the wave propagation path on the received AE signature. Here, to model how AE may detect fault propagation in a hollow cylindrical splined shaft, the splined section is essentially unrolled into a metal plate of the same thickness as the cylinder wall. Spline ridges are cut into this plate, a through-notch is cut perpendicular to the spline to model fatigue crack initiation, and tensile cyclic loading is applied parallel to the spline to propagate the crack. In this paper, the new piezoelectric sensor array is introduced with the purpose of placing them within the gearbox to minimize the wave propagation path. The fatigue crack growth of a notched and flattened gearbox spline component is monitored using a new piezoelectric sensor array and conventional sensors in a laboratory environment with the purpose of developing source models and testing the new sensor performance. The AE data is continuously collected together with strain gauges strategically positioned on the structure. A significant amount of continuous emission due to the plastic deformation accompanied with the crack growth is observed. The frequency spectra of continuous emissions and burst emissions are compared to understand the differences of plastic deformation and sudden crack jump. The

  18. Modeling the dispersion of atmospheric pollution using cubic splines and chapeau functions

    Energy Technology Data Exchange (ETDEWEB)

    Pepper, D W; Kern, C D; Long, P E

    1979-01-01

    Two methods that can be used to solve complex, three-dimensional, advection-diffusion transport equations are investigated. A quasi-Lagrangian cubic spline method and a chapeau function method are compared in advecting a passive scalar. The methods are simple to use, computationally fast, and reasonably accurate. Little numerical dissipation is manifested by the schemes. In simple advection tests with equal mesh spacing, the chapeau function method maintains slightly more accurate peak values than the cubic spline method. In tests with unequal mesh spacing, the cubic spline method has less noise, but slightly more damping than the standard chapeau method has. Both cubic splines and chapeau functions can be used to solve the three-dimensional problem of gaseous emissions dispersion without excessive programing complexity or storage requirements. (10 diagrams, 39 references, 2 tables)

  19. Spline Trajectory Algorithm Development: Bezier Curve Control Point Generation for UAVs

    Science.gov (United States)

    Howell, Lauren R.; Allen, B. Danette

    2016-01-01

    A greater need for sophisticated autonomous piloting systems has risen in direct correlation with the ubiquity of Unmanned Aerial Vehicle (UAV) technology. Whether surveying unknown or unexplored areas of the world, collecting scientific data from regions in which humans are typically incapable of entering, locating lost or wanted persons, or delivering emergency supplies, an unmanned vehicle moving in close proximity to people and other vehicles, should fly smoothly and predictably. The mathematical application of spline interpolation can play an important role in autopilots' on-board trajectory planning. Spline interpolation allows for the connection of Three-Dimensional Euclidean Space coordinates through a continuous set of smooth curves. This paper explores the motivation, application, and methodology used to compute the spline control points, which shape the curves in such a way that the autopilot trajectory is able to meet vehicle-dynamics limitations. The spline algorithms developed used to generate these curves supply autopilots with the information necessary to compute vehicle paths through a set of coordinate waypoints.

  20. Integration by cell algorithm for Slater integrals in a spline basis

    International Nuclear Information System (INIS)

    Qiu, Y.; Fischer, C.F.

    1999-01-01

    An algorithm for evaluating Slater integrals in a B-spline basis is introduced. Based on the piecewise property of the B-splines, the algorithm divides the two-dimensional (r 1 , r 2 ) region into a number of rectangular cells according to the chosen grid and implements the two-dimensional integration over each individual cell using Gaussian quadrature. Over the off-diagonal cells, the integrands are separable so that each two-dimensional cell-integral is reduced to a product of two one-dimensional integrals. Furthermore, the scaling invariance of the B-splines in the logarithmic region of the chosen grid is fully exploited such that only some of the cell integrations need to be implemented. The values of given Slater integrals are obtained by assembling the cell integrals. This algorithm significantly improves the efficiency and accuracy of the traditional method that relies on the solution of differential equations and renders the B-spline method more effective when applied to multi-electron atomic systems

  1. Numerical Solutions for Convection-Diffusion Equation through Non-Polynomial Spline

    Directory of Open Access Journals (Sweden)

    Ravi Kanth A.S.V.

    2016-01-01

    Full Text Available In this paper, numerical solutions for convection-diffusion equation via non-polynomial splines are studied. We purpose an implicit method based on non-polynomial spline functions for solving the convection-diffusion equation. The method is proven to be unconditionally stable by using Von Neumann technique. Numerical results are illustrated to demonstrate the efficiency and stability of the purposed method.

  2. LD in AD 2000.

    Science.gov (United States)

    Smith, Bert Kruger

    The author discusses potential problems and benefits for learning disabled (LD) students in the year 2000. Considered are developments in three areas: human engineering (such as the role of amniocentesis in prevention of disabilities), education (including new audiovisual technology and a restructuring of secondary education), and human…

  3. Tomographic reconstruction with B-splines surfaces

    International Nuclear Information System (INIS)

    Oliveira, Eric F.; Dantas, Carlos C.; Melo, Silvio B.; Mota, Icaro V.; Lira, Mailson

    2011-01-01

    Algebraic reconstruction techniques when applied to a limited number of data usually suffer from noise caused by the process of correction or by inconsistencies in the data coming from the stochastic process of radioactive emission and oscillation equipment. The post - processing of the reconstructed image with the application of filters can be done to mitigate the presence of noise. In general these processes also attenuate the discontinuities present in edges that distinguish objects or artifacts, causing excessive blurring in the reconstructed image. This paper proposes a built-in noise reduction at the same time that it ensures adequate smoothness level in the reconstructed surface, representing the unknowns as linear combinations of elements of a piecewise polynomial basis, i.e. a B-splines basis. For that, the algebraic technique ART is modified to accommodate the first, second and third degree bases, ensuring C 0 , C 1 and C 2 smoothness levels, respectively. For comparisons, three methodologies are applied: ART, ART post-processed with regular B-splines filters (ART*) and the proposed method with the built-in B-splines filter (BsART). Simulations with input data produced from common mathematical phantoms were conducted. For the phantoms used the BsART method consistently presented the smallest errors, among the three methods. This study has shown the superiority of the change made to embed the filter in the ART when compared to the post-filtered ART. (author)

  4. [Multimodal medical image registration using cubic spline interpolation method].

    Science.gov (United States)

    He, Yuanlie; Tian, Lianfang; Chen, Ping; Wang, Lifei; Ye, Guangchun; Mao, Zongyuan

    2007-12-01

    Based on the characteristic of the PET-CT multimodal image series, a novel image registration and fusion method is proposed, in which the cubic spline interpolation method is applied to realize the interpolation of PET-CT image series, then registration is carried out by using mutual information algorithm and finally the improved principal component analysis method is used for the fusion of PET-CT multimodal images to enhance the visual effect of PET image, thus satisfied registration and fusion results are obtained. The cubic spline interpolation method is used for reconstruction to restore the missed information between image slices, which can compensate for the shortage of previous registration methods, improve the accuracy of the registration, and make the fused multimodal images more similar to the real image. Finally, the cubic spline interpolation method has been successfully applied in developing 3D-CRT (3D Conformal Radiation Therapy) system.

  5. Genetics of sputum gene expression in chronic obstructive pulmonary disease.

    Directory of Open Access Journals (Sweden)

    Weiliang Qiu

    Full Text Available Previous expression quantitative trait loci (eQTL studies have performed genetic association studies for gene expression, but most of these studies examined lymphoblastoid cell lines from non-diseased individuals. We examined the genetics of gene expression in a relevant disease tissue from chronic obstructive pulmonary disease (COPD patients to identify functional effects of known susceptibility genes and to find novel disease genes. By combining gene expression profiling on induced sputum samples from 131 COPD cases from the ECLIPSE Study with genomewide single nucleotide polymorphism (SNP data, we found 4315 significant cis-eQTL SNP-probe set associations (3309 unique SNPs. The 3309 SNPs were tested for association with COPD in a genomewide association study (GWAS dataset, which included 2940 COPD cases and 1380 controls. Adjusting for 3309 tests (p<1.5e-5, the two SNPs which were significantly associated with COPD were located in two separate genes in a known COPD locus on chromosome 15: CHRNA5 and IREB2. Detailed analysis of chromosome 15 demonstrated additional eQTLs for IREB2 mapping to that gene. eQTL SNPs for CHRNA5 mapped to multiple linkage disequilibrium (LD bins. The eQTLs for IREB2 and CHRNA5 were not in LD. Seventy-four additional eQTL SNPs were associated with COPD at p<0.01. These were genotyped in two COPD populations, finding replicated associations with a SNP in PSORS1C1, in the HLA-C region on chromosome 6. Integrative analysis of GWAS and gene expression data from relevant tissue from diseased subjects has located potential functional variants in two known COPD genes and has identified a novel COPD susceptibility locus.

  6. Genetics of Sputum Gene Expression in Chronic Obstructive Pulmonary Disease

    Science.gov (United States)

    Qiu, Weiliang; Cho, Michael H.; Riley, John H.; Anderson, Wayne H.; Singh, Dave; Bakke, Per; Gulsvik, Amund; Litonjua, Augusto A.; Lomas, David A.; Crapo, James D.; Beaty, Terri H.; Celli, Bartolome R.; Rennard, Stephen; Tal-Singer, Ruth; Fox, Steven M.; Silverman, Edwin K.; Hersh, Craig P.

    2011-01-01

    Previous expression quantitative trait loci (eQTL) studies have performed genetic association studies for gene expression, but most of these studies examined lymphoblastoid cell lines from non-diseased individuals. We examined the genetics of gene expression in a relevant disease tissue from chronic obstructive pulmonary disease (COPD) patients to identify functional effects of known susceptibility genes and to find novel disease genes. By combining gene expression profiling on induced sputum samples from 131 COPD cases from the ECLIPSE Study with genomewide single nucleotide polymorphism (SNP) data, we found 4315 significant cis-eQTL SNP-probe set associations (3309 unique SNPs). The 3309 SNPs were tested for association with COPD in a genomewide association study (GWAS) dataset, which included 2940 COPD cases and 1380 controls. Adjusting for 3309 tests (p<1.5e-5), the two SNPs which were significantly associated with COPD were located in two separate genes in a known COPD locus on chromosome 15: CHRNA5 and IREB2. Detailed analysis of chromosome 15 demonstrated additional eQTLs for IREB2 mapping to that gene. eQTL SNPs for CHRNA5 mapped to multiple linkage disequilibrium (LD) bins. The eQTLs for IREB2 and CHRNA5 were not in LD. Seventy-four additional eQTL SNPs were associated with COPD at p<0.01. These were genotyped in two COPD populations, finding replicated associations with a SNP in PSORS1C1, in the HLA-C region on chromosome 6. Integrative analysis of GWAS and gene expression data from relevant tissue from diseased subjects has located potential functional variants in two known COPD genes and has identified a novel COPD susceptibility locus. PMID:21949713

  7. LD to IC

    CERN Multimedia

    Association du personnel

    2010-01-01

    LC to IC – Publication of posts: Following the publication of new LD to IC posts, we regret that a large number of post descriptions are not available in both CERN official languages, English and French. Consequently, the Staff Association has decided to provide assistance to those who need it with the translation of one or more posts of interest. To do this, please contact the Staff Association secretariat, tel. 72819 or 72761 or 74224.

  8. Draft genome sequence of an elite Dura palm and whole-genome patterns of DNA variation in oil palm.

    Science.gov (United States)

    Jin, Jingjing; Lee, May; Bai, Bin; Sun, Yanwei; Qu, Jing; Rahmadsyah; Alfiko, Yuzer; Lim, Chin Huat; Suwanto, Antonius; Sugiharti, Maria; Wong, Limsoon; Ye, Jian; Chua, Nam-Hai; Yue, Gen Hua

    2016-12-01

    Oil palm is the world's leading source of vegetable oil and fat. Dura, Pisifera and Tenera are three forms of oil palm. The genome sequence of Pisifera is available whereas the Dura form has not been sequenced yet. We sequenced the genome of one elite Dura palm, and re-sequenced 17 palm genomes. The assemble genome sequence of the elite Dura tree contained 10,971 scaffolds and was 1.701 Gb in length, covering 94.49% of the oil palm genome. 36,105 genes were predicted. Re-sequencing of 17 additional palm trees identified 18.1 million SNPs. We found high genetic variation among palms from different geographical regions, but lower variation among Southeast Asian Dura and Pisifera palms. We mapped 10,000 SNPs on the linkage map of oil palm. In addition, high linkage disequilibrium (LD) was detected in the oil palms used in breeding populations of Southeast Asia, suggesting that LD mapping is likely to be practical in this important oil crop. Our data provide a valuable resource for accelerating genetic improvement and studying the mechanism underlying phenotypic variations of important oil palm traits. © The Author 2016. Published by Oxford University Press on behalf of Kazusa DNA Research Institute.

  9. Adaptive estimation of multivariate functions using conditionally Gaussian tensor-product spline priors

    NARCIS (Netherlands)

    Jonge, de R.; Zanten, van J.H.

    2012-01-01

    We investigate posterior contraction rates for priors on multivariate functions that are constructed using tensor-product B-spline expansions. We prove that using a hierarchical prior with an appropriate prior distribution on the partition size and Gaussian prior weights on the B-spline

  10. Extent of linkage disequilibrium in the domestic cat, Felis silvestris catus, and its breeds.

    Directory of Open Access Journals (Sweden)

    Hasan Alhaddad

    Full Text Available Domestic cats have a unique breeding history and can be used as models for human hereditary and infectious diseases. In the current era of genome-wide association studies, insights regarding linkage disequilibrium (LD are essential for efficient association studies. The objective of this study is to investigate the extent of LD in the domestic cat, Felis silvestris catus, particularly within its breeds. A custom illumina GoldenGate Assay consisting of 1536 single nucleotide polymorphisms (SNPs equally divided over ten 1 Mb chromosomal regions was developed, and genotyped across 18 globally recognized cat breeds and two distinct random bred populations. The pair-wise LD descriptive measure (r(2 was calculated between the SNPs in each region and within each population independently. LD decay was estimated by determining the non-linear least-squares of all pair-wise estimates as a function of distance using established models. The point of 50% decay of r(2 was used to compare the extent of LD between breeds. The longest extent of LD was observed in the Burmese breed, where the distance at which r(2 ≈ 0.25 was ∼380 kb, comparable to several horse and dog breeds. The shortest extent of LD was found in the Siberian breed, with an r(2 ≈ 0.25 at approximately 17 kb, comparable to random bred cats and human populations. A comprehensive haplotype analysis was also conducted. The haplotype structure of each region within each breed mirrored the LD estimates. The LD of cat breeds largely reflects the breeds' population history and breeding strategies. Understanding LD in diverse populations will contribute to an efficient use of the newly developed SNP array for the cat in the design of genome-wide association studies, as well as to the interpretation of results for the fine mapping of disease and phenotypic traits.

  11. On convexity and Schoenberg's variation diminishing splines

    International Nuclear Information System (INIS)

    Feng, Yuyu; Kozak, J.

    1992-11-01

    In the paper we characterize a convex function by the monotonicity of a particular variation diminishing spline sequence. The result extends the property known for the Bernstein polynomial sequence. (author). 4 refs

  12. Transcriptome-Wide Single Nucleotide Polymorphisms (SNPs for Abalone (Haliotis midae: Validation and Application Using GoldenGate Medium-Throughput Genotyping Assays

    Directory of Open Access Journals (Sweden)

    Rouvay Roodt-Wilding

    2013-09-01

    Full Text Available Haliotis midae is one of the most valuable commercial abalone species in the world, but is highly vulnerable, due to exploitation, habitat destruction and predation. In order to preserve wild and cultured stocks, genetic management and improvement of the species has become crucial. Fundamental to this is the availability and employment of molecular markers, such as microsatellites and Single Nucleotide Polymorphisms (SNPs . Transcriptome sequences generated through sequencing-by-synthesis technology were utilized for the in vitro and in silico identification of 505 putative SNPs from a total of 316 selected contigs. A subset of 234 SNPs were further validated and characterized in wild and cultured abalone using two Illumina GoldenGate genotyping assays. Combined with VeraCode technology, this genotyping platform yielded a 65%−69% conversion rate (percentage polymorphic markers with a global genotyping success rate of 76%−85% and provided a viable means for validating SNP markers in a non-model species. The utility of 31 of the validated SNPs in population structure analysis was confirmed, while a large number of SNPs (174 were shown to be informative and are, thus, good candidates for linkage map construction. The non-synonymous SNPs (50 located in coding regions of genes that showed similarities with known proteins will also be useful for genetic applications, such as the marker-assisted selection of genes of relevance to abalone aquaculture.

  13. Transcriptome-wide single nucleotide polymorphisms (SNPs) for abalone (Haliotis midae): validation and application using GoldenGate medium-throughput genotyping assays.

    Science.gov (United States)

    Bester-Van Der Merwe, Aletta; Blaauw, Sonja; Du Plessis, Jana; Roodt-Wilding, Rouvay

    2013-09-23

    Haliotis midae is one of the most valuable commercial abalone species in the world, but is highly vulnerable, due to exploitation, habitat destruction and predation. In order to preserve wild and cultured stocks, genetic management and improvement of the species has become crucial. Fundamental to this is the availability and employment of molecular markers, such as microsatellites and single nucleotide (SNPs). Transcriptome sequences generated through sequencing-by-synthesis technology were utilized for the in vitro and in silico identification of 505 putative SNPs from a total of 316 selected contigs. A subset of 234 SNPs were further validated and characterized in wild and cultured abalone using two Illumina GoldenGate genotyping assays. Combined with VeraCode technology, this genotyping platform yielded a 65%-69% conversion rate (percentage polymorphic markers) with a global genotyping success rate of 76%-85% and provided a viable means for validating SNP markers in a non-model species. The utility of 31 of the validated SNPs in population structure analysis was confirmed, while a large number of SNPs (174) were shown to be informative and are, thus, good candidates for linkage map construction. The non-synonymous SNPs (50) located in coding regions of genes that showed similarities with known proteins will also be useful for genetic applications, such as the marker-assisted selection of genes of relevance to abalone aquaculture.

  14. Stabilized Discretization in Spline Element Method for Solution of Two-Dimensional Navier-Stokes Problems

    Directory of Open Access Journals (Sweden)

    Neng Wan

    2014-01-01

    Full Text Available In terms of the poor geometric adaptability of spline element method, a geometric precision spline method, which uses the rational Bezier patches to indicate the solution domain, is proposed for two-dimensional viscous uncompressed Navier-Stokes equation. Besides fewer pending unknowns, higher accuracy, and computation efficiency, it possesses such advantages as accurate representation of isogeometric analysis for object boundary and the unity of geometry and analysis modeling. Meanwhile, the selection of B-spline basis functions and the grid definition is studied and a stable discretization format satisfying inf-sup conditions is proposed. The degree of spline functions approaching the velocity field is one order higher than that approaching pressure field, and these functions are defined on one-time refined grid. The Dirichlet boundary conditions are imposed through the Nitsche variational principle in weak form due to the lack of interpolation properties of the B-splines functions. Finally, the validity of the proposed method is verified with some examples.

  15. Scripted Bodies and Spline Driven Animation

    DEFF Research Database (Denmark)

    Erleben, Kenny; Henriksen, Knud

    2002-01-01

    In this paper we will take a close look at the details and technicalities in applying spline driven animation to scripted bodies in the context of dynamic simulation. The main contributions presented in this paper are methods for computing velocities and accelerations in the time domain...

  16. Construction and Verification of PLC LD-programs by LTL-specification

    Directory of Open Access Journals (Sweden)

    E. V. Kuzmin

    2013-01-01

    Full Text Available An approach to construction and verification of PLC LD-programs for discrete problems is proposed. For the specification of the program behavior, we use the linear-time temporal logic LTL. Programming is carried out in the LD-language (Ladder Diagram according to an LTL-specification. The correctness analysis of an LTL-specification is carried out by the symbolic model checking tool Cadence SMV. A new approach to programming and verification of PLC LD-programs is shown by an example. For a discrete problem, we give a LD-program, its LTL-specification and an SMV-model. The purpose of the article is to describe an approach to programming PLC, which would provide a possibility of LD-program correctness analysis by the model checking method. Under the proposed approach, the change of the value of each program variable is described by a pair of LTL-formulas. The first LTL-formula describes situations which increase the value of the corresponding variable, the second LTL-formula specifies conditions leading to a decrease of the variable value. The LTL-formulas (used for speci- fication of the corresponding variable behavior are constructive in the sense that they construct the PLC-program (LD-program, which satisfies temporal properties expressed by these formulas. Thus, the programming of PLC is reduced to the construction of LTLspecification of the behavior of each program variable. In addition, an SMV-model of a PLC LD-program is constructed according to LTL-specification. Then, the SMV-model is analysed by the symbolic model checking tool Cadence SMV.

  17. Numerical solution of system of boundary value problems using B-spline with free parameter

    Science.gov (United States)

    Gupta, Yogesh

    2017-01-01

    This paper deals with method of B-spline solution for a system of boundary value problems. The differential equations are useful in various fields of science and engineering. Some interesting real life problems involve more than one unknown function. These result in system of simultaneous differential equations. Such systems have been applied to many problems in mathematics, physics, engineering etc. In present paper, B-spline and B-spline with free parameter methods for the solution of a linear system of second-order boundary value problems are presented. The methods utilize the values of cubic B-spline and its derivatives at nodal points together with the equations of the given system and boundary conditions, ensuing into the linear matrix equation.

  18. SNPs in Multi-Species Conserved Sequences (MCS as useful markers in association studies: a practical approach

    Directory of Open Access Journals (Sweden)

    Pericak-Vance Margaret A

    2007-08-01

    Full Text Available Abstract Background Although genes play a key role in many complex diseases, the specific genes involved in most complex diseases remain largely unidentified. Their discovery will hinge on the identification of key sequence variants that are conclusively associated with disease. While much attention has been focused on variants in protein-coding DNA, variants in noncoding regions may also play many important roles in complex disease by altering gene regulation. Since the vast majority of noncoding genomic sequence is of unknown function, this increases the challenge of identifying "functional" variants that cause disease. However, evolutionary conservation can be used as a guide to indicate regions of noncoding or coding DNA that are likely to have biological function, and thus may be more likely to harbor SNP variants with functional consequences. To help bias marker selection in favor of such variants, we devised a process that prioritizes annotated SNPs for genotyping studies based on their location within Multi-species Conserved Sequences (MCSs and used this process to select SNPs in a region of linkage to a complex disease. This allowed us to evaluate the utility of the chosen SNPs for further association studies. Previously, a region of chromosome 1q43 was linked to Multiple Sclerosis (MS in a genome-wide screen. We chose annotated SNPs in the region based on location within MCSs (termed MCS-SNPs. We then obtained genotypes for 478 MCS-SNPs in 989 individuals from MS families. Results Analysis of our MCS-SNP genotypes from the 1q43 region and comparison to HapMap data confirmed that annotated SNPs in MCS regions are frequently polymorphic and show subtle signatures of selective pressure, consistent with previous reports of genome-wide variation in conserved regions. We also present an online tool that allows MCS data to be directly exported to the UCSC genome browser so that MCS-SNPs can be easily identified within genomic regions of

  19. Investigation of SNPs in the porcine desmoglein 1 gene

    DEFF Research Database (Denmark)

    Daugaard, L.; Andresen, Lars Ole; Fredholm, M.

    2007-01-01

    epidermitis were diagnosed clinically as affected or unaffected. Two regions of the desmoglein I gene were sequenced and genotypes of the SNPs were established. Seven SNPs (823T>C, 828A>G, 829A>G, 830A>T, 831A>T, 838A>C and 1139C>T) were found in the analysed sequences and the allele frequencies were...... the location of single nucleotide polymorphisms (SNPs) in the porcine desmoglein I gene (PIG)DSGI in correlation to the cleavage site as well as if the genotype of the SNPs is correlated to susceptibility or resistance to the disease. Results: DNA from 32 affected and 32 unaffected piglets with exudative...... the genotypes of two out of seven SNPs found in the porcine desmoglein I gene and the susceptibility to exudative epidermitis....

  20. In Silico Analysis of FMR1 Gene Missense SNPs.

    Science.gov (United States)

    Tekcan, Akin

    2016-06-01

    The FMR1 gene, a member of the fragile X-related gene family, is responsible for fragile X syndrome (FXS). Missense single-nucleotide polymorphisms (SNPs) are responsible for many complex diseases. The effect of FMR1 gene missense SNPs is unknown. The aim of this study, using in silico techniques, was to analyze all known missense mutations that can affect the functionality of the FMR1 gene, leading to mental retardation (MR) and FXS. Data on the human FMR1 gene were collected from the Ensembl database (release 81), National Centre for Biological Information dbSNP Short Genetic Variations database, 1000 Genomes Browser, and NHLBI Exome Sequencing Project Exome Variant Server. In silico analysis was then performed. One hundred-twenty different missense SNPs of the FMR1 gene were determined. Of these, 11.66 % of the FMR1 gene missense SNPs were in highly conserved domains, and 83.33 % were in domains with high variety. The results of the in silico prediction analysis showed that 31.66 % of the FMR1 gene SNPs were disease related and that 50 % of SNPs had a pathogenic effect. The results of the structural and functional analysis revealed that although the R138Q mutation did not seem to have a damaging effect on the protein, the G266E and I304N SNPs appeared to disturb the interaction between the domains and affect the function of the protein. This is the first study to analyze all missense SNPs of the FMR1 gene. The results indicate the applicability of a bioinformatics approach to FXS and other FMR1-related diseases. I think that the analysis of FMR1 gene missense SNPs using bioinformatics methods would help diagnosis of FXS and other FMR1-related diseases.

  1. Development of quadrilateral spline thin plate elements using the B-net method

    Science.gov (United States)

    Chen, Juan; Li, Chong-Jun

    2013-08-01

    The quadrilateral discrete Kirchhoff thin plate bending element DKQ is based on the isoparametric element Q8, however, the accuracy of the isoparametric quadrilateral elements will drop significantly due to mesh distortions. In a previouswork, we constructed an 8-node quadrilateral spline element L8 using the triangular area coordinates and the B-net method, which can be insensitive to mesh distortions and possess the second order completeness in the Cartesian coordinates. In this paper, a thin plate spline element is developed based on the spline element L8 and the refined technique. Numerical examples show that the present element indeed possesses higher accuracy than the DKQ element for distorted meshes.

  2. Landmark-based elastic registration using approximating thin-plate splines.

    Science.gov (United States)

    Rohr, K; Stiehl, H S; Sprengel, R; Buzug, T M; Weese, J; Kuhn, M H

    2001-06-01

    We consider elastic image registration based on a set of corresponding anatomical point landmarks and approximating thin-plate splines. This approach is an extension of the original interpolating thin-plate spline approach and allows to take into account landmark localization errors. The extension is important for clinical applications since landmark extraction is always prone to error. Our approach is based on a minimizing functional and can cope with isotropic as well as anisotropic landmark errors. In particular, in the latter case it is possible to include different types of landmarks, e.g., unique point landmarks as well as arbitrary edge points. Also, the scheme is general with respect to the image dimension and the order of smoothness of the underlying functional. Optimal affine transformations as well as interpolating thin-plate splines are special cases of this scheme. To localize landmarks we use a semi-automatic approach which is based on three-dimensional (3-D) differential operators. Experimental results are presented for two-dimensional as well as 3-D tomographic images of the human brain.

  3. Recent and historical recombination in the admixed Norwegian Red cattle breed

    Directory of Open Access Journals (Sweden)

    Grove Harald

    2011-01-01

    Full Text Available Abstract Background Comparison of recent patterns of recombination derived from linkage maps to historical patterns of recombination from linkage disequilibrium (LD could help identify genomic regions affected by strong artificial selection, appearing as reduced recent recombination. Norwegian Red cattle (NRF make an interesting case study for investigating these patterns as it is an admixed breed with an extensively recorded pedigree. NRF have been under strong artificial selection for traits such as milk and meat production, fertility and health. While measures of LD is also crucial for determining the number of markers required for association mapping studies, estimates of recombination rate can be used to assess quality of genomic assemblies. Results A dataset containing more than 17,000 genome-wide distributed SNPs and 2600 animals was used to assess recombination rates and LD in NRF. Although low LD measured by r2 was observed in NRF relative to some of the breeds from which this breed originates, reports from breeds other than those assessed in this study have described more rapid decline in r2 at short distances than what was found in NRF. Rate of decline in r2 for NRF suggested that to obtain an expected r2 between markers and a causal polymorphism of at least 0.5 for genome-wide association studies, approximately one SNP every 15 kb or a total of 200,000 SNPs would be required. For well known quantitative trait loci (QTLs for milk production traits on Bos Taurus chromosomes 1, 6 and 20, map length based on historic recombination was greater than map length based on recent recombination in NRF. Further, positions for 130 previously unpositioned contigs from assembly of the bovine genome sequence (Btau_4.0 found using comparative sequence analysis were validated by linkage analysis, and 28% of these positions corresponded to extreme values of population recombination rate. Conclusion While LD is reduced in NRF compared to some of the

  4. WASP: a Web-based Allele-Specific PCR assay designing tool for detecting SNPs and mutations

    Directory of Open Access Journals (Sweden)

    Assawamakin Anunchai

    2007-08-01

    Full Text Available Abstract Background Allele-specific (AS Polymerase Chain Reaction is a convenient and inexpensive method for genotyping Single Nucleotide Polymorphisms (SNPs and mutations. It is applied in many recent studies including population genetics, molecular genetics and pharmacogenomics. Using known AS primer design tools to create primers leads to cumbersome process to inexperience users since information about SNP/mutation must be acquired from public databases prior to the design. Furthermore, most of these tools do not offer the mismatch enhancement to designed primers. The available web applications do not provide user-friendly graphical input interface and intuitive visualization of their primer results. Results This work presents a web-based AS primer design application called WASP. This tool can efficiently design AS primers for human SNPs as well as mutations. To assist scientists with collecting necessary information about target polymorphisms, this tool provides a local SNP database containing over 10 million SNPs of various populations from public domain databases, namely NCBI dbSNP, HapMap and JSNP respectively. This database is tightly integrated with the tool so that users can perform the design for existing SNPs without going off the site. To guarantee specificity of AS primers, the proposed system incorporates a primer specificity enhancement technique widely used in experiment protocol. In particular, WASP makes use of different destabilizing effects by introducing one deliberate 'mismatch' at the penultimate (second to last of the 3'-end base of AS primers to improve the resulting AS primers. Furthermore, WASP offers graphical user interface through scalable vector graphic (SVG draw that allow users to select SNPs and graphically visualize designed primers and their conditions. Conclusion WASP offers a tool for designing AS primers for both SNPs and mutations. By integrating the database for known SNPs (using gene ID or rs number

  5. MHD stability analysis using higher order spline functions

    Energy Technology Data Exchange (ETDEWEB)

    Ida, Akihiro [Department of Energy Engineering and Science, Graduate School of Engineering, Nagoya University, Nagoya, Aichi (Japan); Todoroki, Jiro; Sanuki, Heiji

    1999-04-01

    The eigenvalue problem of the linearized magnetohydrodynamic (MHD) equation is formulated by using higher order spline functions as the base functions of Ritz-Galerkin approximation. When the displacement vector normal to the magnetic surface (in the magnetic surface) is interpolated by B-spline functions of degree p{sub 1} (degree p{sub 2}), which is continuously c{sub 1}-th (c{sub 2}-th) differentiable on neighboring finite elements, the sufficient conditions for the good approximation is given by p{sub 1}{>=}p{sub 2}+1, c{sub 1}{<=}c{sub 2}+1, (c{sub 1}{>=}1, p{sub 2}{>=}c{sub 2}{>=}0). The influence of the numerical integration upon the convergence of calculated eigenvalues is discussed. (author)

  6. 3D craniofacial registration using thin-plate spline transform and cylindrical surface projection.

    Science.gov (United States)

    Chen, Yucong; Zhao, Junli; Deng, Qingqiong; Duan, Fuqing

    2017-01-01

    Craniofacial registration is used to establish the point-to-point correspondence in a unified coordinate system among human craniofacial models. It is the foundation of craniofacial reconstruction and other craniofacial statistical analysis research. In this paper, a non-rigid 3D craniofacial registration method using thin-plate spline transform and cylindrical surface projection is proposed. First, the gradient descent optimization is utilized to improve a cylindrical surface fitting (CSF) for the reference craniofacial model. Second, the thin-plate spline transform (TPST) is applied to deform a target craniofacial model to the reference model. Finally, the cylindrical surface projection (CSP) is used to derive the point correspondence between the reference and deformed target models. To accelerate the procedure, the iterative closest point ICP algorithm is used to obtain a rough correspondence, which can provide a possible intersection area of the CSP. Finally, the inverse TPST is used to map the obtained corresponding points from the deformed target craniofacial model to the original model, and it can be realized directly by the correspondence between the original target model and the deformed target model. Three types of registration, namely, reflexive, involutive and transitive registration, are carried out to verify the effectiveness of the proposed craniofacial registration algorithm. Comparison with the methods in the literature shows that the proposed method is more accurate.

  7. 3D craniofacial registration using thin-plate spline transform and cylindrical surface projection.

    Directory of Open Access Journals (Sweden)

    Yucong Chen

    Full Text Available Craniofacial registration is used to establish the point-to-point correspondence in a unified coordinate system among human craniofacial models. It is the foundation of craniofacial reconstruction and other craniofacial statistical analysis research. In this paper, a non-rigid 3D craniofacial registration method using thin-plate spline transform and cylindrical surface projection is proposed. First, the gradient descent optimization is utilized to improve a cylindrical surface fitting (CSF for the reference craniofacial model. Second, the thin-plate spline transform (TPST is applied to deform a target craniofacial model to the reference model. Finally, the cylindrical surface projection (CSP is used to derive the point correspondence between the reference and deformed target models. To accelerate the procedure, the iterative closest point ICP algorithm is used to obtain a rough correspondence, which can provide a possible intersection area of the CSP. Finally, the inverse TPST is used to map the obtained corresponding points from the deformed target craniofacial model to the original model, and it can be realized directly by the correspondence between the original target model and the deformed target model. Three types of registration, namely, reflexive, involutive and transitive registration, are carried out to verify the effectiveness of the proposed craniofacial registration algorithm. Comparison with the methods in the literature shows that the proposed method is more accurate.

  8. Linkage disequilibrium and association mapping of drought ...

    African Journals Online (AJOL)

    Drought stress is a major abiotic stress that limits crop production. Molecular association mapping techniques through linkage disequilibrium (LD) can be effectively used to tag genomic regions involved in drought stress tolerance. With the association mapping approach, 90 genotypes of cotton Gossypium hirsutum, from ...

  9. 用SPSS软件计算新药的LD50%The Calculation of LD50 in New Drugs with Software SPSS

    Institute of Scientific and Technical Information of China (English)

    周一平

    2003-01-01

    [目的]应用SPSS软件进行新药LD50的计算.[方法]将数据直接在视窗系统中输入和分析选项.[结果]自动输出相关参数和量效曲线.[结论]SPSS计算LD50简单、快速、直观和方便.

  10. Application of Cubic Box Spline Wavelets in the Analysis of Signal Singularities

    Directory of Open Access Journals (Sweden)

    Rakowski Waldemar

    2015-12-01

    Full Text Available In the subject literature, wavelets such as the Mexican hat (the second derivative of a Gaussian or the quadratic box spline are commonly used for the task of singularity detection. The disadvantage of the Mexican hat, however, is its unlimited support; the disadvantage of the quadratic box spline is a phase shift introduced by the wavelet, making it difficult to locate singular points. The paper deals with the construction and properties of wavelets in the form of cubic box splines which have compact and short support and which do not introduce a phase shift. The digital filters associated with cubic box wavelets that are applied in implementing the discrete dyadic wavelet transform are defined. The filters and the algorithme à trous of the discrete dyadic wavelet transform are used in detecting signal singularities and in calculating the measures of signal singularities in the form of a Lipschitz exponent. The article presents examples illustrating the use of cubic box spline wavelets in the analysis of signal singularities.

  11. A periodic pattern of SNPs in the human genome

    DEFF Research Database (Denmark)

    Madsen, Bo Eskerod; Villesen, Palle; Wiuf, Carsten

    2007-01-01

    By surveying a filtered, high-quality set of SNPs in the human genome, we have found that SNPs positioned 1, 2, 4, 6, or 8 bp apart are more frequent than SNPs positioned 3, 5, 7, or 9 bp apart. The observed pattern is not restricted to genomic regions that are known to cause sequencing...... periodic DNA. Our results suggest that not all SNPs in the human genome are created by independent single nucleotide mutations, and that care should be taken in analysis of SNPs from periodic DNA. The latter may have important consequences for SNP and association studies....... or alignment errors, for example, transposable elements (SINE, LINE, and LTR), tandem repeats, and large duplicated regions. However, we found that the pattern is almost entirely confined to what we define as "periodic DNA." Periodic DNA is a genomic region with a high degree of periodicity in nucleotide usage...

  12. Design of high precision temperature control system for TO packaged LD

    Science.gov (United States)

    Liang, Enji; Luo, Baoke; Zhuang, Bin; He, Zhengquan

    2017-10-01

    Temperature is an important factor affecting the performance of TO package LD. In order to ensure the safe and stable operation of LD, a temperature control circuit for LD based on PID technology is designed. The MAX1978 and an external PID circuit are used to form a control circuit that drives the thermoelectric cooler (TEC) to achieve control of temperature and the external load can be changed. The system circuit has low power consumption, high integration and high precision,and the circuit can achieve precise control of the LD temperature. Experiment results show that the circuit can achieve effective and stable control of the laser temperature.

  13. Splines and variational methods

    CERN Document Server

    Prenter, P M

    2008-01-01

    One of the clearest available introductions to variational methods, this text requires only a minimal background in calculus and linear algebra. Its self-contained treatment explains the application of theoretic notions to the kinds of physical problems that engineers regularly encounter. The text's first half concerns approximation theoretic notions, exploring the theory and computation of one- and two-dimensional polynomial and other spline functions. Later chapters examine variational methods in the solution of operator equations, focusing on boundary value problems in one and two dimension

  14. An isogeometric boundary element method for electromagnetic scattering with compatible B-spline discretizations

    Science.gov (United States)

    Simpson, R. N.; Liu, Z.; Vázquez, R.; Evans, J. A.

    2018-06-01

    We outline the construction of compatible B-splines on 3D surfaces that satisfy the continuity requirements for electromagnetic scattering analysis with the boundary element method (method of moments). Our approach makes use of Non-Uniform Rational B-splines to represent model geometry and compatible B-splines to approximate the surface current, and adopts the isogeometric concept in which the basis for analysis is taken directly from CAD (geometry) data. The approach allows for high-order approximations and crucially provides a direct link with CAD data structures that allows for efficient design workflows. After outlining the construction of div- and curl-conforming B-splines defined over 3D surfaces we describe their use with the electric and magnetic field integral equations using a Galerkin formulation. We use Bézier extraction to accelerate the computation of NURBS and B-spline terms and employ H-matrices to provide accelerated computations and memory reduction for the dense matrices that result from the boundary integral discretization. The method is verified using the well known Mie scattering problem posed over a perfectly electrically conducting sphere and the classic NASA almond problem. Finally, we demonstrate the ability of the approach to handle models with complex geometry directly from CAD without mesh generation.

  15. Incidence of lactase deficiency (LD) in gastroduodenal ulcer and gastric carcinoma

    International Nuclear Information System (INIS)

    Bahk, Yong Whee; Ahn, Kwan Shik; Kim, Chung Ja

    1974-01-01

    Lactase deficiency (LD) has been described in associated with peptic ulcer disease of the upper gastrointestinal tract, but little has been known as to the incidence of LD in the patients with ulcer disease of the upper GI tract or with gastric carcinoma. The purpose of the present study is to investigate the incidence of LD in gastric and/or duodenal ulcer disease and in gastric carcinoma, and to hypothesize the possible effect of these diseases on LD. Clinical materials consisted of 40 cases of active duodenal ulcer disease, 19 cases of benign gastric ulcer, 5 cases of multiple ulcers both in the stomach and duodenum, and 32 cases of gastric carcinoma. We used the lactose-barium test in diagnosing LD. X-ray findings were assessed according to the criteria described by Laws et al. and Preger and Amberg in the small-bowel film obtained at 30 minutes after the ingestion of some 200 ml of lactose-barium meal which contained 50 gm of lactose. Our clinical study revealed that the incidence of LD in duodenal ulcer was 50%, in gastric ulcer 57.9%, in gastric and duodenal ulcer 60%, and in gastric carcinoma 46.9%. The difference of incidence between each disease were statistically not significant, but the difference between the disease group and normal control was highly significant. The incidence of LD in disease group was nearly twice as high as that of normal control (27.7%). It is speculated that high incidence of LD in peptic ulcer disease of upper GI tract in particular may be associated with high acidity, the analog of which is found in Zollinger-Ellison syndrome. But high acidity is not a prominent feature in gastric carcinoma which is attended by almost equally high incidence of LD. It is therefore likely that the intolerability to lactose is caused by much complicated mechanism of versatile factors

  16. Incidence of lactase deficiency (LD) in gastroduodenal ulcer and gastric carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Bahk, Yong Whee; Ahn, Kwan Shik; Kim, Chung Ja [St. Mary' s Hospital, Catholic Medical College, Seoul (Korea, Republic of)

    1974-04-15

    Lactase deficiency (LD) has been described in associated with peptic ulcer disease of the upper gastrointestinal tract, but little has been known as to the incidence of LD in the patients with ulcer disease of the upper GI tract or with gastric carcinoma. The purpose of the present study is to investigate the incidence of LD in gastric and/or duodenal ulcer disease and in gastric carcinoma, and to hypothesize the possible effect of these diseases on LD. Clinical materials consisted of 40 cases of active duodenal ulcer disease, 19 cases of benign gastric ulcer, 5 cases of multiple ulcers both in the stomach and duodenum, and 32 cases of gastric carcinoma. We used the lactose-barium test in diagnosing LD. X-ray findings were assessed according to the criteria described by Laws et al. and Preger and Amberg in the small-bowel film obtained at 30 minutes after the ingestion of some 200 ml of lactose-barium meal which contained 50 gm of lactose. Our clinical study revealed that the incidence of LD in duodenal ulcer was 50%, in gastric ulcer 57.9%, in gastric and duodenal ulcer 60%, and in gastric carcinoma 46.9%. The difference of incidence between each disease were statistically not significant, but the difference between the disease group and normal control was highly significant. The incidence of LD in disease group was nearly twice as high as that of normal control (27.7%). It is speculated that high incidence of LD in peptic ulcer disease of upper GI tract in particular may be associated with high acidity, the analog of which is found in Zollinger-Ellison syndrome. But high acidity is not a prominent feature in gastric carcinoma which is attended by almost equally high incidence of LD. It is therefore likely that the intolerability to lactose is caused by much complicated mechanism of versatile factors.

  17. Data approximation using a blending type spline construction

    International Nuclear Information System (INIS)

    Dalmo, Rune; Bratlie, Jostein

    2014-01-01

    Generalized expo-rational B-splines (GERBS) is a blending type spline construction where local functions at each knot are blended together by C k -smooth basis functions. One way of approximating discrete regular data using GERBS is by partitioning the data set into subsets and fit a local function to each subset. Partitioning and fitting strategies can be devised such that important or interesting data points are interpolated in order to preserve certain features. We present a method for fitting discrete data using a tensor product GERBS construction. The method is based on detection of feature points using differential geometry. Derivatives, which are necessary for feature point detection and used to construct local surface patches, are approximated from the discrete data using finite differences

  18. Modeling terminal ballistics using blending-type spline surfaces

    Science.gov (United States)

    Pedersen, Aleksander; Bratlie, Jostein; Dalmo, Rune

    2014-12-01

    We explore using GERBS, a blending-type spline construction, to represent deform able thin-plates and model terminal ballistics. Strategies to construct geometry for different scenarios of terminal ballistics are proposed.

  19. SNP Discovery for mapping alien introgressions in wheat

    Science.gov (United States)

    2014-01-01

    Background Monitoring alien introgressions in crop plants is difficult due to the lack of genetic and molecular mapping information on the wild crop relatives. The tertiary gene pool of wheat is a very important source of genetic variability for wheat improvement against biotic and abiotic stresses. By exploring the 5Mg short arm (5MgS) of Aegilops geniculata, we can apply chromosome genomics for the discovery of SNP markers and their use for monitoring alien introgressions in wheat (Triticum aestivum L). Results The short arm of chromosome 5Mg of Ae. geniculata Roth (syn. Ae. ovata L.; 2n = 4x = 28, UgUgMgMg) was flow-sorted from a wheat line in which it is maintained as a telocentric chromosome. DNA of the sorted arm was amplified and sequenced using an Illumina Hiseq 2000 with ~45x coverage. The sequence data was used for SNP discovery against wheat homoeologous group-5 assemblies. A total of 2,178 unique, 5MgS-specific SNPs were discovered. Randomly selected samples of 59 5MgS-specific SNPs were tested (44 by KASPar assay and 15 by Sanger sequencing) and 84% were validated. Of the selected SNPs, 97% mapped to a chromosome 5Mg addition to wheat (the source of t5MgS), and 94% to 5Mg introgressed from a different accession of Ae. geniculata substituting for chromosome 5D of wheat. The validated SNPs also identified chromosome segments of 5MgS origin in a set of T5D-5Mg translocation lines; eight SNPs (25%) mapped to TA5601 [T5DL · 5DS-5MgS(0.75)] and three (8%) to TA5602 [T5DL · 5DS-5MgS (0.95)]. SNPs (gsnp_5ms83 and gsnp_5ms94), tagging chromosome T5DL · 5DS-5MgS(0.95) with the smallest introgression carrying resistance to leaf rust (Lr57) and stripe rust (Yr40), were validated in two released germplasm lines with Lr57 and Yr40 genes. Conclusion This approach should be widely applicable for the identification of species/genome-specific SNPs. The development of a large number of SNP markers will facilitate the precise introgression and

  20. SNP Discovery for mapping alien introgressions in wheat.

    Science.gov (United States)

    Tiwari, Vijay K; Wang, Shichen; Sehgal, Sunish; Vrána, Jan; Friebe, Bernd; Kubaláková, Marie; Chhuneja, Praveen; Doležel, Jaroslav; Akhunov, Eduard; Kalia, Bhanu; Sabir, Jamal; Gill, Bikram S

    2014-04-10

    Monitoring alien introgressions in crop plants is difficult due to the lack of genetic and molecular mapping information on the wild crop relatives. The tertiary gene pool of wheat is a very important source of genetic variability for wheat improvement against biotic and abiotic stresses. By exploring the 5Mg short arm (5MgS) of Aegilops geniculata, we can apply chromosome genomics for the discovery of SNP markers and their use for monitoring alien introgressions in wheat (Triticum aestivum L). The short arm of chromosome 5Mg of Ae. geniculata Roth (syn. Ae. ovata L.; 2n = 4x = 28, UgUgMgMg) was flow-sorted from a wheat line in which it is maintained as a telocentric chromosome. DNA of the sorted arm was amplified and sequenced using an Illumina Hiseq 2000 with ~45x coverage. The sequence data was used for SNP discovery against wheat homoeologous group-5 assemblies. A total of 2,178 unique, 5MgS-specific SNPs were discovered. Randomly selected samples of 59 5MgS-specific SNPs were tested (44 by KASPar assay and 15 by Sanger sequencing) and 84% were validated. Of the selected SNPs, 97% mapped to a chromosome 5Mg addition to wheat (the source of t5MgS), and 94% to 5Mg introgressed from a different accession of Ae. geniculata substituting for chromosome 5D of wheat. The validated SNPs also identified chromosome segments of 5MgS origin in a set of T5D-5Mg translocation lines; eight SNPs (25%) mapped to TA5601 [T5DL · 5DS-5MgS(0.75)] and three (8%) to TA5602 [T5DL · 5DS-5MgS (0.95)]. SNPs (gsnp_5ms83 and gsnp_5ms94), tagging chromosome T5DL · 5DS-5MgS(0.95) with the smallest introgression carrying resistance to leaf rust (Lr57) and stripe rust (Yr40), were validated in two released germplasm lines with Lr57 and Yr40 genes. This approach should be widely applicable for the identification of species/genome-specific SNPs. The development of a large number of SNP markers will facilitate the precise introgression and monitoring of alien segments in crop

  1. Use of a draft genome of coffee (Coffea arabica) to identify SNPs associated with caffeine content.

    Science.gov (United States)

    Tran, Hue T M; Ramaraj, Thiruvarangan; Furtado, Agnelo; Lee, Leonard Slade; Henry, Robert J

    2018-03-07

    Arabica coffee (Coffea arabica) has a small gene pool limiting genetic improvement. Selection for caffeine content within this gene pool would be assisted by identification of the genes controlling this important trait. Sequencing of DNA bulks from 18 genotypes with extreme high- or low-caffeine content from a population of 232 genotypes was used to identify linked polymorphisms. To obtain a reference genome, a whole genome assembly of arabica coffee (variety K7) was achieved by sequencing using short read (Illumina) and long-read (PacBio) technology. Assembly was performed using a range of assembly tools resulting in 76 409 scaffolds with a scaffold N50 of 54 544 bp and a total scaffold length of 1448 Mb. Validation of the genome assembly using different tools showed high completeness of the genome. More than 99% of transcriptome sequences mapped to the C. arabica draft genome, and 89% of BUSCOs were present. The assembled genome annotated using AUGUSTUS yielded 99 829 gene models. Using the draft arabica genome as reference in mapping and variant calling allowed the detection of 1444 nonsynonymous single nucleotide polymorphisms (SNPs) associated with caffeine content. Based on Kyoto Encyclopaedia of Genes and Genomes pathway-based analysis, 65 caffeine-associated SNPs were discovered, among which 11 SNPs were associated with genes encoding enzymes involved in the conversion of substrates, which participate in the caffeine biosynthesis pathways. This analysis demonstrated the complex genetic control of this key trait in coffee. © 2018 The Authors. Plant Biotechnology Journal published by Society for Experimental Biology and The Association of Applied Biologists and John Wiley & Sons Ltd.

  2. Exact sampling of the unobserved covariates in Bayesian spline models for measurement error problems.

    Science.gov (United States)

    Bhadra, Anindya; Carroll, Raymond J

    2016-07-01

    In truncated polynomial spline or B-spline models where the covariates are measured with error, a fully Bayesian approach to model fitting requires the covariates and model parameters to be sampled at every Markov chain Monte Carlo iteration. Sampling the unobserved covariates poses a major computational problem and usually Gibbs sampling is not possible. This forces the practitioner to use a Metropolis-Hastings step which might suffer from unacceptable performance due to poor mixing and might require careful tuning. In this article we show for the cases of truncated polynomial spline or B-spline models of degree equal to one, the complete conditional distribution of the covariates measured with error is available explicitly as a mixture of double-truncated normals, thereby enabling a Gibbs sampling scheme. We demonstrate via a simulation study that our technique performs favorably in terms of computational efficiency and statistical performance. Our results indicate up to 62 and 54 % increase in mean integrated squared error efficiency when compared to existing alternatives while using truncated polynomial splines and B-splines respectively. Furthermore, there is evidence that the gain in efficiency increases with the measurement error variance, indicating the proposed method is a particularly valuable tool for challenging applications that present high measurement error. We conclude with a demonstration on a nutritional epidemiology data set from the NIH-AARP study and by pointing out some possible extensions of the current work.

  3. In Vitro vs In Silico Detected SNPs for the Development of a Genotyping Array: What Can We Learn from a Non-Model Species?

    Science.gov (United States)

    Lepoittevin, Camille; Frigerio, Jean-Marc; Garnier-Géré, Pauline; Salin, Franck; Cervera, María-Teresa; Vornam, Barbara; Harvengt, Luc; Plomion, Christophe

    2010-01-01

    Background There is considerable interest in the high-throughput discovery and genotyping of single nucleotide polymorphisms (SNPs) to accelerate genetic mapping and enable association studies. This study provides an assessment of EST-derived and resequencing-derived SNP quality in maritime pine (Pinus pinaster Ait.), a conifer characterized by a huge genome size (∼23.8 Gb/C). Methodology/Principal Findings A 384-SNPs GoldenGate genotyping array was built from i/ 184 SNPs originally detected in a set of 40 re-sequenced candidate genes (in vitro SNPs), chosen on the basis of functionality scores, presence of neighboring polymorphisms, minor allele frequencies and linkage disequilibrium and ii/ 200 SNPs screened from ESTs (in silico SNPs) selected based on the number of ESTs used for SNP detection, the SNP minor allele frequency and the quality of SNP flanking sequences. The global success rate of the assay was 66.9%, and a conversion rate (considering only polymorphic SNPs) of 51% was achieved. In vitro SNPs showed significantly higher genotyping-success and conversion rates than in silico SNPs (+11.5% and +18.5%, respectively). The reproducibility was 100%, and the genotyping error rate very low (0.54%, dropping down to 0.06% when removing four SNPs showing elevated error rates). Conclusions/Significance This study demonstrates that ESTs provide a resource for SNP identification in non-model species, which do not require any additional bench work and little bio-informatics analysis. However, the time and cost benefits of in silico SNPs are counterbalanced by a lower conversion rate than in vitro SNPs. This drawback is acceptable for population-based experiments, but could be dramatic in experiments involving samples from narrow genetic backgrounds. In addition, we showed that both the visual inspection of genotyping clusters and the estimation of a per SNP error rate should help identify markers that are not suitable to the GoldenGate technology in species

  4. In vitro vs in silico detected SNPs for the development of a genotyping array: what can we learn from a non-model species?

    Directory of Open Access Journals (Sweden)

    Camille Lepoittevin

    2010-06-01

    Full Text Available There is considerable interest in the high-throughput discovery and genotyping of single nucleotide polymorphisms (SNPs to accelerate genetic mapping and enable association studies. This study provides an assessment of EST-derived and resequencing-derived SNP quality in maritime pine (Pinus pinaster Ait., a conifer characterized by a huge genome size ( approximately 23.8 Gb/C.A 384-SNPs GoldenGate genotyping array was built from i/ 184 SNPs originally detected in a set of 40 re-sequenced candidate genes (in vitro SNPs, chosen on the basis of functionality scores, presence of neighboring polymorphisms, minor allele frequencies and linkage disequilibrium and ii/ 200 SNPs screened from ESTs (in silico SNPs selected based on the number of ESTs used for SNP detection, the SNP minor allele frequency and the quality of SNP flanking sequences. The global success rate of the assay was 66.9%, and a conversion rate (considering only polymorphic SNPs of 51% was achieved. In vitro SNPs showed significantly higher genotyping-success and conversion rates than in silico SNPs (+11.5% and +18.5%, respectively. The reproducibility was 100%, and the genotyping error rate very low (0.54%, dropping down to 0.06% when removing four SNPs showing elevated error rates.This study demonstrates that ESTs provide a resource for SNP identification in non-model species, which do not require any additional bench work and little bio-informatics analysis. However, the time and cost benefits of in silico SNPs are counterbalanced by a lower conversion rate than in vitro SNPs. This drawback is acceptable for population-based experiments, but could be dramatic in experiments involving samples from narrow genetic backgrounds. In addition, we showed that both the visual inspection of genotyping clusters and the estimation of a per SNP error rate should help identify markers that are not suitable to the GoldenGate technology in species characterized by a large and complex genome.

  5. A genome-wide association study of seed protein and oil content in soybean.

    Science.gov (United States)

    Hwang, Eun-Young; Song, Qijian; Jia, Gaofeng; Specht, James E; Hyten, David L; Costa, Jose; Cregan, Perry B

    2014-01-02

    Association analysis is an alternative to conventional family-based methods to detect the location of gene(s) or quantitative trait loci (QTL) and provides relatively high resolution in terms of defining the genome position of a gene or QTL. Seed protein and oil concentration are quantitative traits which are determined by the interaction among many genes with small to moderate genetic effects and their interaction with the environment. In this study, a genome-wide association study (GWAS) was performed to identify quantitative trait loci (QTL) controlling seed protein and oil concentration in 298 soybean germplasm accessions exhibiting a wide range of seed protein and oil content. A total of 55,159 single nucleotide polymorphisms (SNPs) were genotyped using various methods including Illumina Infinium and GoldenGate assays and 31,954 markers with minor allele frequency >0.10 were used to estimate linkage disequilibrium (LD) in heterochromatic and euchromatic regions. In euchromatic regions, the mean LD (r2) rapidly declined to 0.2 within 360 Kbp, whereas the mean LD declined to 0.2 at 9,600 Kbp in heterochromatic regions. The GWAS results identified 40 SNPs in 17 different genomic regions significantly associated with seed protein. Of these, the five SNPs with the highest associations and seven adjacent SNPs were located in the 27.6-30.0 Mbp region of Gm20. A major seed protein QTL has been previously mapped to the same location and potential candidate genes have recently been identified in this region. The GWAS results also detected 25 SNPs in 13 different genomic regions associated with seed oil. Of these markers, seven SNPs had a significant association with both protein and oil. This research indicated that GWAS not only identified most of the previously reported QTL controlling seed protein and oil, but also resulted in narrower genomic regions than the regions reported as containing these QTL. The narrower GWAS-defined genome regions will allow more precise

  6. Identification of Single Nucleotide Polymorphisms and analysis of Linkage Disequilibrium in sunflower elite inbred lines using the candidate gene approach

    Directory of Open Access Journals (Sweden)

    Heinz Ruth A

    2008-01-01

    Full Text Available Abstract Background Association analysis is a powerful tool to identify gene loci that may contribute to phenotypic variation. This includes the estimation of nucleotide diversity, the assessment of linkage disequilibrium structure (LD and the evaluation of selection processes. Trait mapping by allele association requires a high-density map, which could be obtained by the addition of Single Nucleotide Polymorphisms (SNPs and short insertion and/or deletions (indels to SSR and AFLP genetic maps. Nucleotide diversity analysis of randomly selected candidate regions is a promising approach for the success of association analysis and fine mapping in the sunflower genome. Moreover, knowledge of the distance over which LD persists, in agronomically meaningful sunflower accessions, is important to establish the density of markers and the experimental design for association analysis. Results A set of 28 candidate genes related to biotic and abiotic stresses were studied in 19 sunflower inbred lines. A total of 14,348 bp of sequence alignment was analyzed per individual. In average, 1 SNP was found per 69 nucleotides and 38 indels were identified in the complete data set. The mean nucleotide polymorphism was moderate (θ = 0.0056, as expected for inbred materials. The number of haplotypes per region ranged from 1 to 9 (mean = 3.54 ± 1.88. Model-based population structure analysis allowed detection of admixed individuals within the set of accessions examined. Two putative gene pools were identified (G1 and G2, with a large proportion of the inbred lines being assigned to one of them (G1. Consistent with the absence of population sub-structuring, LD for G1 decayed more rapidly (r2 = 0.48 at 643 bp; trend line, pooled data than the LD trend line for the entire set of 19 individuals (r2 = 0.64 for the same distance. Conclusion Knowledge about the patterns of diversity and the genetic relationships between breeding materials could be an invaluable aid in crop

  7. Spatial and temporal interpolation of satellite-based aerosol optical depth measurements over North America using B-splines

    Science.gov (United States)

    Pfister, Nicolas; O'Neill, Norman T.; Aube, Martin; Nguyen, Minh-Nghia; Bechamp-Laganiere, Xavier; Besnier, Albert; Corriveau, Louis; Gasse, Geremie; Levert, Etienne; Plante, Danick

    2005-08-01

    Satellite-based measurements of aerosol optical depth (AOD) over land are obtained from an inversion procedure applied to dense dark vegetation pixels of remotely sensed images. The limited number of pixels over which the inversion procedure can be applied leaves many areas with little or no AOD data. Moreover, satellite coverage by sensors such as MODIS yields only daily images of a given region with four sequential overpasses required to straddle mid-latitude North America. Ground based AOD data from AERONET sun photometers are available on a more continuous basis but only at approximately fifty locations throughout North America. The object of this work is to produce a complete and coherent mapping of AOD over North America with a spatial resolution of 0.1 degree and a frequency of three hours by interpolating MODIS satellite-based data together with available AERONET ground based measurements. Before being interpolated, the MODIS AOD data extracted from different passes are synchronized to the mapping time using analyzed wind fields from the Global Multiscale Model (Meteorological Service of Canada). This approach amounts to a trajectory type of simplified atmospheric dynamics correction method. The spatial interpolation is performed using a weighted least squares method applied to bicubic B-spline functions defined on a rectangular grid. The least squares method enables one to weight the data accordingly to the measurement errors while the B-splines properties of local support and C2 continuity offer a good approximation of AOD behaviour viewed as a function of time and space.

  8. A transcriptome map of perennial ryegrass (Lolium perenne L.

    Directory of Open Access Journals (Sweden)

    Studer Bruno

    2012-04-01

    Full Text Available Abstract Background Single nucleotide polymorphisms (SNPs are increasingly becoming the DNA marker system of choice due to their prevalence in the genome and their ability to be used in highly multiplexed genotyping assays. Although needed in high numbers for genome-wide marker profiles and genomics-assisted breeding, a surprisingly low number of validated SNPs are currently available for perennial ryegrass. Results A perennial ryegrass unigene set representing 9,399 genes was used as a reference for the assembly of 802,156 high quality reads generated by 454 transcriptome sequencing and for in silico SNP discovery. Out of more than 15,433 SNPs in 1,778 unigenes fulfilling highly stringent assembly and detection parameters, a total of 768 SNP markers were selected for GoldenGate genotyping in 184 individuals of the perennial ryegrass mapping population VrnA, a population being previously evaluated for important agronomic traits. A total of 592 (77% of the SNPs tested were successfully called with a cluster separation above 0.9. Of these, 509 (86% genic SNP markers segregated in the VrnA mapping population, out of which 495 were assigned to map positions. The genetic linkage map presented here comprises a total of 838 DNA markers (767 gene-derived markers and spans 750 centi Mogan (cM with an average marker interval distance of less than 0.9 cM. Moreover, it locates 732 expressed genes involved in a broad range of molecular functions of different biological processes in the perennial ryegrass genome. Conclusions Here, we present an efficient approach of using next generation sequencing (NGS data for SNP discovery, and the successful design of a 768-plex Illumina GoldenGate genotyping assay in a complex genome. The ryegrass SNPs along with the corresponding transcribed sequences represent a milestone in the establishment of genetic and genomics resources available for this species and constitute a further step towards molecular breeding

  9. On the accurate fast evaluation of finite Fourier integrals using cubic splines

    International Nuclear Information System (INIS)

    Morishima, N.

    1993-01-01

    Finite Fourier integrals based on a cubic-splines fit to equidistant data are shown to be evaluated fast and accurately. Good performance, especially on computational speed, is achieved by the optimization of the spline fit and the internal use of the fast Fourier transform (FFT) algorithm for complex data. The present procedure provides high accuracy with much shorter CPU time than a trapezoidal FFT. (author)

  10. The score statistic of the LD-lod analysis: detecting linkage adaptive to linkage disequilibrium.

    Science.gov (United States)

    Huang, J; Jiang, Y

    2001-01-01

    We study the properties of a modified lod score method for testing linkage that incorporates linkage disequilibrium (LD-lod). By examination of its score statistic, we show that the LD-lod score method adaptively combines two sources of information: (a) the IBD sharing score which is informative for linkage regardless of the existence of LD and (b) the contrast between allele-specific IBD sharing scores which is informative for linkage only in the presence of LD. We also consider the connection between the LD-lod score method and the transmission-disequilibrium test (TDT) for triad data and the mean test for affected sib pair (ASP) data. We show that, for triad data, the recessive LD-lod test is asymptotically equivalent to the TDT; and for ASP data, it is an adaptive combination of the TDT and the ASP mean test. We demonstrate that the LD-lod score method has relatively good statistical efficiency in comparison with the ASP mean test and the TDT for a broad range of LD and the genetic models considered in this report. Therefore, the LD-lod score method is an interesting approach for detecting linkage when the extent of LD is unknown, such as in a genome-wide screen with a dense set of genetic markers. Copyright 2001 S. Karger AG, Basel

  11. Nonlinear bias compensation of ZiYuan-3 satellite imagery with cubic splines

    Science.gov (United States)

    Cao, Jinshan; Fu, Jianhong; Yuan, Xiuxiao; Gong, Jianya

    2017-11-01

    Like many high-resolution satellites such as the ALOS, MOMS-2P, QuickBird, and ZiYuan1-02C satellites, the ZiYuan-3 satellite suffers from different levels of attitude oscillations. As a result of such oscillations, the rational polynomial coefficients (RPCs) obtained using a terrain-independent scenario often have nonlinear biases. In the sensor orientation of ZiYuan-3 imagery based on a rational function model (RFM), these nonlinear biases cannot be effectively compensated by an affine transformation. The sensor orientation accuracy is thereby worse than expected. In order to eliminate the influence of attitude oscillations on the RFM-based sensor orientation, a feasible nonlinear bias compensation approach for ZiYuan-3 imagery with cubic splines is proposed. In this approach, no actual ground control points (GCPs) are required to determine the cubic splines. First, the RPCs are calculated using a three-dimensional virtual control grid generated based on a physical sensor model. Second, one cubic spline is used to model the residual errors of the virtual control points in the row direction and another cubic spline is used to model the residual errors in the column direction. Then, the estimated cubic splines are used to compensate the nonlinear biases in the RPCs. Finally, the affine transformation parameters are used to compensate the residual biases in the RPCs. Three ZiYuan-3 images were tested. The experimental results showed that before the nonlinear bias compensation, the residual errors of the independent check points were nonlinearly biased. Even if the number of GCPs used to determine the affine transformation parameters was increased from 4 to 16, these nonlinear biases could not be effectively compensated. After the nonlinear bias compensation with the estimated cubic splines, the influence of the attitude oscillations could be eliminated. The RFM-based sensor orientation accuracies of the three ZiYuan-3 images reached 0.981 pixels, 0.890 pixels, and 1

  12. In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene.

    Directory of Open Access Journals (Sweden)

    Sayed AbdulAzeez

    Full Text Available α-Thalassemia (α-thal is a genetic disorder caused by the substitution of single amino acid or large deletions in the HBA1 and/or HBA2 genes.Using modern bioinformatics tools as a systematic in-silico approach to predict the deleterious SNPs in the HBA1 gene and its significant pathogenic impact on the functions and structure of HBA1 protein was predicted.A total of 389 SNPs in HBA1 were retrieved from dbSNP database, which includes: 201 non-coding synonymous (nsSNPs, 43 human active SNPs, 16 intronic SNPs, 11 mRNA 3' UTR SNPs, 9 coding synonymous SNPs, 9 5' UTR SNPs and other types. Structural homology-based method (PolyPhen and sequence homology-based tool (SIFT, SNPs&Go, PROVEAN and PANTHER revealed that 2.4% of the nsSNPs are pathogenic.A total of 5 nsSNPs (G60V, K17M, K17T, L92F and W15R were predicted to be responsible for the structural and functional modifications of HBA1 protein. It is evident from the deep comprehensive in-silico analysis that, two nsSNPs such as G60V and W15R in HBA1 are highly deleterious. These "2 pathogenic nsSNPs" can be considered for wet-lab confirmatory analysis.

  13. Some splines produced by smooth interpolation

    Czech Academy of Sciences Publication Activity Database

    Segeth, Karel

    2018-01-01

    Roč. 319, 15 February (2018), s. 387-394 ISSN 0096-3003 R&D Projects: GA ČR GA14-02067S Institutional support: RVO:67985840 Keywords : smooth data approximation * smooth data interpolation * cubic spline Subject RIV: BA - General Mathematics OBOR OECD: Applied mathematics Impact factor: 1.738, year: 2016 http://www. science direct.com/ science /article/pii/S0096300317302746?via%3Dihub

  14. Some splines produced by smooth interpolation

    Czech Academy of Sciences Publication Activity Database

    Segeth, Karel

    2018-01-01

    Roč. 319, 15 February (2018), s. 387-394 ISSN 0096-3003 R&D Projects: GA ČR GA14-02067S Institutional support: RVO:67985840 Keywords : smooth data approximation * smooth data interpolation * cubic spline Subject RIV: BA - General Mathematics OBOR OECD: Applied mathematics Impact factor: 1.738, year: 2016 http://www.sciencedirect.com/science/article/pii/S0096300317302746?via%3Dihub

  15. A high-density SNP genetic linkage map for the silver-lipped pearl oyster, Pinctada maxima: a valuable resource for gene localisation and marker-assisted selection.

    Science.gov (United States)

    Jones, David B; Jerry, Dean R; Khatkar, Mehar S; Raadsma, Herman W; Zenger, Kyall R

    2013-11-20

    The silver-lipped pearl oyster, Pinctada maxima, is an important tropical aquaculture species extensively farmed for the highly sought "South Sea" pearls. Traditional breeding programs have been initiated for this species in order to select for improved pearl quality, but many economic traits under selection are complex, polygenic and confounded with environmental factors, limiting the accuracy of selection. The incorporation of a marker-assisted selection (MAS) breeding approach would greatly benefit pearl breeding programs by allowing the direct selection of genes responsible for pearl quality. However, before MAS can be incorporated, substantial genomic resources such as genetic linkage maps need to be generated. The construction of a high-density genetic linkage map for P. maxima is not only essential for unravelling the genomic architecture of complex pearl quality traits, but also provides indispensable information on the genome structure of pearl oysters. A total of 1,189 informative genome-wide single nucleotide polymorphisms (SNPs) were incorporated into linkage map construction. The final linkage map consisted of 887 SNPs in 14 linkage groups, spans a total genetic distance of 831.7 centimorgans (cM), and covers an estimated 96% of the P. maxima genome. Assessment of sex-specific recombination across all linkage groups revealed limited overall heterochiasmy between the sexes (i.e. 1.15:1 F/M map length ratio). However, there were pronounced localised differences throughout the linkage groups, whereby male recombination was suppressed near the centromeres compared to female recombination, but inflated towards telomeric regions. Mean values of LD for adjacent SNP pairs suggest that a higher density of markers will be required for powerful genome-wide association studies. Finally, numerous nacre biomineralization genes were localised providing novel positional information for these genes. This high-density SNP genetic map is the first comprehensive linkage

  16. Analytic regularization of uniform cubic B-spline deformation fields.

    Science.gov (United States)

    Shackleford, James A; Yang, Qi; Lourenço, Ana M; Shusharina, Nadya; Kandasamy, Nagarajan; Sharp, Gregory C

    2012-01-01

    Image registration is inherently ill-posed, and lacks a unique solution. In the context of medical applications, it is desirable to avoid solutions that describe physically unsound deformations within the patient anatomy. Among the accepted methods of regularizing non-rigid image registration to provide solutions applicable to medical practice is the penalty of thin-plate bending energy. In this paper, we develop an exact, analytic method for computing the bending energy of a three-dimensional B-spline deformation field as a quadratic matrix operation on the spline coefficient values. Results presented on ten thoracic case studies indicate the analytic solution is between 61-1371x faster than a numerical central differencing solution.

  17. Estimation of Covariance Matrix on Bi-Response Longitudinal Data Analysis with Penalized Spline Regression

    Science.gov (United States)

    Islamiyati, A.; Fatmawati; Chamidah, N.

    2018-03-01

    The correlation assumption of the longitudinal data with bi-response occurs on the measurement between the subjects of observation and the response. It causes the auto-correlation of error, and this can be overcome by using a covariance matrix. In this article, we estimate the covariance matrix based on the penalized spline regression model. Penalized spline involves knot points and smoothing parameters simultaneously in controlling the smoothness of the curve. Based on our simulation study, the estimated regression model of the weighted penalized spline with covariance matrix gives a smaller error value compared to the error of the model without covariance matrix.

  18. A smoothing spline that approximates Laplace transform functions only known on measurements on the real axis

    International Nuclear Information System (INIS)

    D’Amore, L; Campagna, R; Murli, A; Galletti, A; Marcellino, L

    2012-01-01

    The scientific and application-oriented interest in the Laplace transform and its inversion is testified by more than 1000 publications in the last century. Most of the inversion algorithms available in the literature assume that the Laplace transform function is available everywhere. Unfortunately, such an assumption is not fulfilled in the applications of the Laplace transform. Very often, one only has a finite set of data and one wants to recover an estimate of the inverse Laplace function from that. We propose a fitting model of data. More precisely, given a finite set of measurements on the real axis, arising from an unknown Laplace transform function, we construct a dth degree generalized polynomial smoothing spline, where d = 2m − 1, such that internally to the data interval it is a dth degree polynomial complete smoothing spline minimizing a regularization functional, and outside the data interval, it mimics the Laplace transform asymptotic behavior, i.e. it is a rational or an exponential function (the end behavior model), and at the boundaries of the data set it joins with regularity up to order m − 1, with the end behavior model. We analyze in detail the generalized polynomial smoothing spline of degree d = 3. This choice was motivated by the (ill)conditioning of the numerical computation which strongly depends on the degree of the complete spline. We prove existence and uniqueness of this spline. We derive the approximation error and give a priori and computable bounds of it on the whole real axis. In such a way, the generalized polynomial smoothing spline may be used in any real inversion algorithm to compute an approximation of the inverse Laplace function. Experimental results concerning Laplace transform approximation, numerical inversion of the generalized polynomial smoothing spline and comparisons with the exponential smoothing spline conclude the work. (paper)

  19. Genome-wide SNP identification, linkage map construction and QTL mapping for seed mineral concentrations and contents in pea (Pisum sativum L.).

    Science.gov (United States)

    Ma, Yu; Coyne, Clarice J; Grusak, Michael A; Mazourek, Michael; Cheng, Peng; Main, Dorrie; McGee, Rebecca J

    2017-02-13

    Marker-assisted breeding is now routinely used in major crops to facilitate more efficient cultivar improvement. This has been significantly enabled by the use of next-generation sequencing technology to identify loci and markers associated with traits of interest. While rich in a range of nutritional components, such as protein, mineral nutrients, carbohydrates and several vitamins, pea (Pisum sativum L.), one of the oldest domesticated crops in the world, remains behind many other crops in the availability of genomic and genetic resources. To further improve mineral nutrient levels in pea seeds requires the development of genome-wide tools. The objectives of this research were to develop these tools by: identifying genome-wide single nucleotide polymorphisms (SNPs) using genotyping by sequencing (GBS); constructing a high-density linkage map and comparative maps with other legumes, and identifying quantitative trait loci (QTL) for levels of boron, calcium, iron, potassium, magnesium, manganese, molybdenum, phosphorous, sulfur, and zinc in the seed, as well as for seed weight. In this study, 1609 high quality SNPs were found to be polymorphic between 'Kiflica' and 'Aragorn', two parents of an F 6 -derived recombinant inbred line (RIL) population. Mapping 1683 markers including 75 previously published markers and 1608 SNPs developed from the present study generated a linkage map of size 1310.1 cM. Comparative mapping with other legumes demonstrated that the highest level of synteny was observed between pea and the genome of Medicago truncatula. QTL analysis of the RIL population across two locations revealed at least one QTL for each of the mineral nutrient traits. In total, 46 seed mineral concentration QTLs, 37 seed mineral content QTLs, and 6 seed weight QTLs were discovered. The QTLs explained from 2.4% to 43.3% of the phenotypic variance. The genome-wide SNPs and the genetic linkage map developed in this study permitted QTL identification for pea seed mineral

  20. B-spline solution of a singularly perturbed boundary value problem arising in biology

    International Nuclear Information System (INIS)

    Lin Bin; Li Kaitai; Cheng Zhengxing

    2009-01-01

    We use B-spline functions to develop a numerical method for solving a singularly perturbed boundary value problem associated with biology science. We use B-spline collocation method, which leads to a tridiagonal linear system. The accuracy of the proposed method is demonstrated by test problems. The numerical result is found in good agreement with exact solution.

  1. Development of a spreadsheet for SNPs typing using Microsoft EXCEL.

    Science.gov (United States)

    Hashiyada, Masaki; Itakura, Yukio; Takahashi, Shirushi; Sakai, Jun; Funayama, Masato

    2009-04-01

    Single-nucleotide polymorphisms (SNPs) have some characteristics that make them very appropriate for forensic studies and applications. In our institute, SNPs typings were performed by the TaqMan SNP Genotyping Assays using the ABI PRISM 7500 FAST Real-Time PCR System (AppliedBiosystems) and Sequence Detection Software ver.1.4 (AppliedBiosystem). The TaqMan method was desired two positive control (Allele1 and 2) and one negative control to analyze each SNP locus. Therefore, it can be analyzed up to 24 loci of a person on a 96-well-plate at the same time. If SNPs analysis is expected to apply to biometrics authentication, 48 and over loci are required to identify a person. In this study, we designed a spreadsheet package using Microsoft EXCEL, and population data were used from our 120 SNPs population studies. On the spreadsheet, we defined SNP types using 'template files' instead of positive and negative controls. "Template files" consisted of the results of 94 unknown samples and two negative controls of each of 120 SNPs loci we had previously studied. By the use of the files, the spreadsheet could analyze 96 SNPs on a 96-wells-plate simultaneously.

  2. An Investigation into Conversion from Non-Uniform Rational B-Spline Boundary Representation Geometry to Constructive Solid Geometry

    Science.gov (United States)

    2015-12-01

    ARL-SR-0347 ● DEC 2015 US Army Research Laboratory An Investigation into Conversion from Non-Uniform Rational B-Spline Boundary...US Army Research Laboratory An Investigation into Conversion from Non-Uniform Rational B-Spline Boundary Representation Geometry to...from Non-Uniform Rational B-Spline Boundary Representation Geometry to Constructive Solid Geometry 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c

  3. Association test based on SNP set: logistic kernel machine based test vs. principal component analysis.

    Directory of Open Access Journals (Sweden)

    Yang Zhao

    Full Text Available GWAS has facilitated greatly the discovery of risk SNPs associated with complex diseases. Traditional methods analyze SNP individually and are limited by low power and reproducibility since correction for multiple comparisons is necessary. Several methods have been proposed based on grouping SNPs into SNP sets using biological knowledge and/or genomic features. In this article, we compare the linear kernel machine based test (LKM and principal components analysis based approach (PCA using simulated datasets under the scenarios of 0 to 3 causal SNPs, as well as simple and complex linkage disequilibrium (LD structures of the simulated regions. Our simulation study demonstrates that both LKM and PCA can control the type I error at the significance level of 0.05. If the causal SNP is in strong LD with the genotyped SNPs, both the PCA with a small number of principal components (PCs and the LKM with kernel of linear or identical-by-state function are valid tests. However, if the LD structure is complex, such as several LD blocks in the SNP set, or when the causal SNP is not in the LD block in which most of the genotyped SNPs reside, more PCs should be included to capture the information of the causal SNP. Simulation studies also demonstrate the ability of LKM and PCA to combine information from multiple causal SNPs and to provide increased power over individual SNP analysis. We also apply LKM and PCA to analyze two SNP sets extracted from an actual GWAS dataset on non-small cell lung cancer.

  4. B-Spline Approximations of the Gaussian, their Gabor Frame Properties, and Approximately Dual Frames

    DEFF Research Database (Denmark)

    Christensen, Ole; Kim, Hong Oh; Kim, Rae Young

    2017-01-01

    We prove that Gabor systems generated by certain scaled B-splines can be considered as perturbations of the Gabor systems generated by the Gaussian, with a deviation within an arbitrary small tolerance whenever the order N of the B-spline is sufficiently large. As a consequence we show that for a...

  5. On developing B-spline registration algorithms for multi-core processors

    International Nuclear Information System (INIS)

    Shackleford, J A; Kandasamy, N; Sharp, G C

    2010-01-01

    Spline-based deformable registration methods are quite popular within the medical-imaging community due to their flexibility and robustness. However, they require a large amount of computing time to obtain adequate results. This paper makes two contributions towards accelerating B-spline-based registration. First, we propose a grid-alignment scheme and associated data structures that greatly reduce the complexity of the registration algorithm. Based on this grid-alignment scheme, we then develop highly data parallel designs for B-spline registration within the stream-processing model, suitable for implementation on multi-core processors such as graphics processing units (GPUs). Particular attention is focused on an optimal method for performing analytic gradient computations in a data parallel fashion. CPU and GPU versions are validated for execution time and registration quality. Performance results on large images show that our GPU algorithm achieves a speedup of 15 times over the single-threaded CPU implementation whereas our multi-core CPU algorithm achieves a speedup of 8 times over the single-threaded implementation. The CPU and GPU versions achieve near-identical registration quality in terms of RMS differences between the generated vector fields.

  6. Mapping of yield, yield stability, yield adaptability and other traits in barley using linkage disequilibrium mapping and linkage analysis

    OpenAIRE

    Kraakman, A.T.W.

    2005-01-01

    Plants is mostly done through linkage analysis. A segregating mapping population Identification and mappping of Quantitative Trait Loci (QTLs) in is created from a bi-parental cross and linkages between trait values and mapped markers reveal the positions ofQTLs. Inthisstudyweexploredlinkagedisequilibrium(LD)mappingof traits in a set of modernbarleycultivars. LDbetweenmolecularmarkerswasfoundup to a distance of 10 centimorgan,whichislargecomparedtootherspecies.Thelarge distancemightbeinducedb...

  7. A comparison of spatial analysis methods for the construction of topographic maps of retinal cell density.

    Directory of Open Access Journals (Sweden)

    Eduardo Garza-Gisholt

    Full Text Available Topographic maps that illustrate variations in the density of different neuronal sub-types across the retina are valuable tools for understanding the adaptive significance of retinal specialisations in different species of vertebrates. To date, such maps have been created from raw count data that have been subjected to only limited analysis (linear interpolation and, in many cases, have been presented as iso-density contour maps with contour lines that have been smoothed 'by eye'. With the use of stereological approach to count neuronal distribution, a more rigorous approach to analysing the count data is warranted and potentially provides a more accurate representation of the neuron distribution pattern. Moreover, a formal spatial analysis of retinal topography permits a more robust comparison of topographic maps within and between species. In this paper, we present a new R-script for analysing the topography of retinal neurons and compare methods of interpolating and smoothing count data for the construction of topographic maps. We compare four methods for spatial analysis of cell count data: Akima interpolation, thin plate spline interpolation, thin plate spline smoothing and Gaussian kernel smoothing. The use of interpolation 'respects' the observed data and simply calculates the intermediate values required to create iso-density contour maps. Interpolation preserves more of the data but, consequently includes outliers, sampling errors and/or other experimental artefacts. In contrast, smoothing the data reduces the 'noise' caused by artefacts and permits a clearer representation of the dominant, 'real' distribution. This is particularly useful where cell density gradients are shallow and small variations in local density may dramatically influence the perceived spatial pattern of neuronal topography. The thin plate spline and the Gaussian kernel methods both produce similar retinal topography maps but the smoothing parameters used may affect

  8. A comparison of spatial analysis methods for the construction of topographic maps of retinal cell density.

    Science.gov (United States)

    Garza-Gisholt, Eduardo; Hemmi, Jan M; Hart, Nathan S; Collin, Shaun P

    2014-01-01

    Topographic maps that illustrate variations in the density of different neuronal sub-types across the retina are valuable tools for understanding the adaptive significance of retinal specialisations in different species of vertebrates. To date, such maps have been created from raw count data that have been subjected to only limited analysis (linear interpolation) and, in many cases, have been presented as iso-density contour maps with contour lines that have been smoothed 'by eye'. With the use of stereological approach to count neuronal distribution, a more rigorous approach to analysing the count data is warranted and potentially provides a more accurate representation of the neuron distribution pattern. Moreover, a formal spatial analysis of retinal topography permits a more robust comparison of topographic maps within and between species. In this paper, we present a new R-script for analysing the topography of retinal neurons and compare methods of interpolating and smoothing count data for the construction of topographic maps. We compare four methods for spatial analysis of cell count data: Akima interpolation, thin plate spline interpolation, thin plate spline smoothing and Gaussian kernel smoothing. The use of interpolation 'respects' the observed data and simply calculates the intermediate values required to create iso-density contour maps. Interpolation preserves more of the data but, consequently includes outliers, sampling errors and/or other experimental artefacts. In contrast, smoothing the data reduces the 'noise' caused by artefacts and permits a clearer representation of the dominant, 'real' distribution. This is particularly useful where cell density gradients are shallow and small variations in local density may dramatically influence the perceived spatial pattern of neuronal topography. The thin plate spline and the Gaussian kernel methods both produce similar retinal topography maps but the smoothing parameters used may affect the outcome.

  9. Identification of functional SNPs in the 5-prime flanking sequences of human genes

    Directory of Open Access Journals (Sweden)

    Lenhard Boris

    2005-02-01

    Full Text Available Abstract Background Over 4 million single nucleotide polymorphisms (SNPs are currently reported to exist within the human genome. Only a small fraction of these SNPs alter gene function or expression, and therefore might be associated with a cell phenotype. These functional SNPs are consequently important in understanding human health. Information related to functional SNPs in candidate disease genes is critical for cost effective genetic association studies, which attempt to understand the genetics of complex diseases like diabetes, Alzheimer's, etc. Robust methods for the identification of functional SNPs are therefore crucial. We report one such experimental approach. Results Sequence conserved between mouse and human genomes, within 5 kilobases of the 5-prime end of 176 GPCR genes, were screened for SNPs. Sequences flanking these SNPs were scored for transcription factor binding sites. Allelic pairs resulting in a significant score difference were predicted to influence the binding of transcription factors (TFs. Ten such SNPs were selected for mobility shift assays (EMSA, resulting in 7 of them exhibiting a reproducible shift. The full-length promoter regions with 4 of the 7 SNPs were cloned in a Luciferase based plasmid reporter system. Two out of the 4 SNPs exhibited differential promoter activity in several human cell lines. Conclusions We propose a method for effective selection of functional, regulatory SNPs that are located in evolutionary conserved 5-prime flanking regions (5'-FR regions of human genes and influence the activity of the transcriptional regulatory region. Some SNPs behave differently in different cell types.

  10. Implementation of exterior complex scaling in B-splines to solve atomic and molecular collision problems

    International Nuclear Information System (INIS)

    McCurdy, C William; MartIn, Fernando

    2004-01-01

    B-spline methods are now well established as widely applicable tools for the evaluation of atomic and molecular continuum states. The mathematical technique of exterior complex scaling has been shown, in a variety of other implementations, to be a powerful method with which to solve atomic and molecular scattering problems, because it allows the correct imposition of continuum boundary conditions without their explicit analytic application. In this paper, an implementation of exterior complex scaling in B-splines is described that can bring the well-developed technology of B-splines to bear on new problems, including multiple ionization and breakup problems, in a straightforward way. The approach is demonstrated for examples involving the continuum motion of nuclei in diatomic molecules as well as electronic continua. For problems involving electrons, a method based on Poisson's equation is presented for computing two-electron integrals over B-splines under exterior complex scaling

  11. Thin-plate spline analysis of mandibular growth.

    Science.gov (United States)

    Franchi, L; Baccetti, T; McNamara, J A

    2001-04-01

    The analysis of mandibular growth changes around the pubertal spurt in humans has several important implications for the diagnosis and orthopedic correction of skeletal disharmonies. The purpose of this study was to evaluate mandibular shape and size growth changes around the pubertal spurt in a longitudinal sample of subjects with normal occlusion by means of an appropriate morphometric technique (thin-plate spline analysis). Ten mandibular landmarks were identified on lateral cephalograms of 29 subjects at 6 different developmental phases. The 6 phases corresponded to 6 different maturational stages in cervical vertebrae during accelerative and decelerative phases of the pubertal growth curve of the mandible. Differences in shape between average mandibular configurations at the 6 developmental stages were visualized by means of thin-plate spline analysis and subjected to permutation test. Centroid size was used as the measure of the geometric size of each mandibular specimen. Differences in size at the 6 developmental phases were tested statistically. The results of graphical analysis indicated a statistically significant change in mandibular shape only for the growth interval from stage 3 to stage 4 in cervical vertebral maturation. Significant increases in centroid size were found at all developmental phases, with evidence of a prepubertal minimum and of a pubertal maximum. The existence of a pubertal peak in human mandibular growth, therefore, is confirmed by thin-plate spline analysis. Significant morphological changes in the mandible during the growth interval from stage 3 to stage 4 in cervical vertebral maturation may be described as an upward-forward direction of condylar growth determining an overall "shrinkage" of the mandibular configuration along the measurement of total mandibular length. This biological mechanism is particularly efficient in compensating for major increments in mandibular size at the adolescent spurt.

  12. Prostate multimodality image registration based on B-splines and quadrature local energy.

    Science.gov (United States)

    Mitra, Jhimli; Martí, Robert; Oliver, Arnau; Lladó, Xavier; Ghose, Soumya; Vilanova, Joan C; Meriaudeau, Fabrice

    2012-05-01

    Needle biopsy of the prostate is guided by Transrectal Ultrasound (TRUS) imaging. The TRUS images do not provide proper spatial localization of malignant tissues due to the poor sensitivity of TRUS to visualize early malignancy. Magnetic Resonance Imaging (MRI) has been shown to be sensitive for the detection of early stage malignancy, and therefore, a novel 2D deformable registration method that overlays pre-biopsy MRI onto TRUS images has been proposed. The registration method involves B-spline deformations with Normalized Mutual Information (NMI) as the similarity measure computed from the texture images obtained from the amplitude responses of the directional quadrature filter pairs. Registration accuracy of the proposed method is evaluated by computing the Dice Similarity coefficient (DSC) and 95% Hausdorff Distance (HD) values for 20 patients prostate mid-gland slices and Target Registration Error (TRE) for 18 patients only where homologous structures are visible in both the TRUS and transformed MR images. The proposed method and B-splines using NMI computed from intensities provide average TRE values of 2.64 ± 1.37 and 4.43 ± 2.77 mm respectively. Our method shows statistically significant improvement in TRE when compared with B-spline using NMI computed from intensities with Student's t test p = 0.02. The proposed method shows 1.18 times improvement over thin-plate splines registration with average TRE of 3.11 ± 2.18 mm. The mean DSC and the mean 95% HD values obtained with the proposed method of B-spline with NMI computed from texture are 0.943 ± 0.039 and 4.75 ± 2.40 mm respectively. The texture energy computed from the quadrature filter pairs provides better registration accuracy for multimodal images than raw intensities. Low TRE values of the proposed registration method add to the feasibility of it being used during TRUS-guided biopsy.

  13. A chord error conforming tool path B-spline fitting method for NC machining based on energy minimization and LSPIA

    OpenAIRE

    He, Shanshan; Ou, Daojiang; Yan, Changya; Lee, Chen-Han

    2015-01-01

    Piecewise linear (G01-based) tool paths generated by CAM systems lack G1 and G2 continuity. The discontinuity causes vibration and unnecessary hesitation during machining. To ensure efficient high-speed machining, a method to improve the continuity of the tool paths is required, such as B-spline fitting that approximates G01 paths with B-spline curves. Conventional B-spline fitting approaches cannot be directly used for tool path B-spline fitting, because they have shortages such as numerical...

  14. Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease

    Directory of Open Access Journals (Sweden)

    Kullo Iftikhar J

    2011-04-01

    Full Text Available Abstract Background We hypothesized that the frequencies of risk alleles of SNPs mediating susceptibility to cardiovascular diseases differ among populations of varying geographic origin and that population-specific selection has operated on some of these variants. Methods From the database of genome-wide association studies (GWAS, we selected 36 cardiovascular phenotypes including coronary heart disease, hypertension, and stroke, as well as related quantitative traits (eg, body mass index and plasma lipid levels. We identified 292 SNPs in 270 genes associated with a disease or trait at P -8. As part of the Human Genome-Diversity Project (HGDP, 158 (54.1% of these SNPs have been genotyped in 938 individuals belonging to 52 populations from seven geographic areas. A measure of population differentiation, FST, was calculated to quantify differences in risk allele frequencies (RAFs among populations and geographic areas. Results Large differences in RAFs were noted in populations of Africa, East Asia, America and Oceania, when compared with other geographic regions. The mean global FST (0.1042 for 158 SNPs among the populations was not significantly higher than the mean global FST of 158 autosomal SNPs randomly sampled from the HGDP database. Significantly higher global FST (P FST of 2036 putatively neutral SNPs. For four of these SNPs, additional evidence of selection was noted based on the integrated Haplotype Score. Conclusion Large differences in RAFs for a set of common SNPs that influence risk of cardiovascular disease were noted between the major world populations. Pairwise comparisons revealed RAF differences for at least eight SNPs that might be due to population-specific selection or demographic factors. These findings are relevant to a better understanding of geographic variation in the prevalence of cardiovascular disease.

  15. Impact of SNPs on Protein Phosphorylation Status in Rice (Oryza sativa L.

    Directory of Open Access Journals (Sweden)

    Shoukai Lin

    2016-11-01

    Full Text Available Single nucleotide polymorphisms (SNPs are widely used in functional genomics and genetics research work. The high-quality sequence of rice genome has provided a genome-wide SNP and proteome resource. However, the impact of SNPs on protein phosphorylation status in rice is not fully understood. In this paper, we firstly updated rice SNP resource based on the new rice genome Ver. 7.0, then systematically analyzed the potential impact of Non-synonymous SNPs (nsSNPs on the protein phosphorylation status. There were 3,897,312 SNPs in Ver. 7.0 rice genome, among which 9.9% was nsSNPs. Whilst, a total 2,508,261 phosphorylated sites were predicted in rice proteome. Interestingly, we observed that 150,197 (39.1% nsSNPs could influence protein phosphorylation status, among which 52.2% might induce changes of protein kinase (PK types for adjacent phosphorylation sites. We constructed a database, SNP_rice, to deposit the updated rice SNP resource and phosSNPs information. It was freely available to academic researchers at http://bioinformatics.fafu.edu.cn. As a case study, we detected five nsSNPs that potentially influenced heterotrimeric G proteins phosphorylation status in rice, indicating that genetic polymorphisms showed impact on the signal transduction by influencing the phosphorylation status of heterotrimeric G proteins. The results in this work could be a useful resource for future experimental identification and provide interesting information for better rice breeding.

  16. Modeling disease risk through analysis of physical interactions between genetic variants within chromatin regulatory circuitry.

    Science.gov (United States)

    Corradin, Olivia; Cohen, Andrea J; Luppino, Jennifer M; Bayles, Ian M; Schumacher, Fredrick R; Scacheri, Peter C

    2016-11-01

    SNPs associated with disease susceptibility often reside in enhancer clusters, or super-enhancers. Constituents of these enhancer clusters cooperate to regulate target genes and often extend beyond the linkage disequilibrium (LD) blocks containing risk SNPs identified in genome-wide association studies (GWAS). We identified 'outside variants', defined as SNPs in weak LD with GWAS risk SNPs that physically interact with risk SNPs as part of a target gene's regulatory circuitry. These outside variants further explain variation in target gene expression beyond that explained by GWAS-associated SNPs. Additionally, the clinical risk associated with GWAS SNPs is considerably modified by the genotype of outside variants. Collectively, these findings suggest a potential model in which outside variants and GWAS SNPs that physically interact in 3D chromatin collude to influence target transcript levels as well as clinical risk. This model offers an additional hypothesis for the source of missing heritability for complex traits.

  17. Fabrication of LD-3 Polymer Directional Couplers

    National Research Council Canada - National Science Library

    Chen, Ray T

    1998-01-01

    .... LD-3 polymer directional couplers arc designed and fabricated to operate at 1.3 microns. Waveguide propagation losses, device characterization, demonstration of cross coupling and packaged device pictures are presented in this final report.

  18. Genetic admixture and population substructure in Guanacaste Costa Rica.

    Directory of Open Access Journals (Sweden)

    Zhaoming Wang

    2010-10-01

    Full Text Available The population of Costa Rica (CR represents an admixture of major continental populations. An investigation of the CR population structure would provide an important foundation for mapping genetic variants underlying common diseases and traits. We conducted an analysis of 1,301 women from the Guanacaste region of CR using 27,904 single nucleotide polymorphisms (SNPs genotyped on a custom Illumina InfiniumII iSelect chip. The program STRUCTURE was used to compare the CR Guanacaste sample with four continental reference samples, including HapMap Europeans (CEU, East Asians (JPT+CHB, West African Yoruba (YRI, as well as Native Americans (NA from the Illumina iControl database. Our results show that the CR Guanacaste sample comprises a three-way admixture estimated to be 43% European, 38% Native American and 15% West African. An estimated 4% residual Asian ancestry may be within the error range. Results from principal components analysis reveal a correlation between genetic and geographic distance. The magnitude of linkage disequilibrium (LD measured by the number of tagging SNPs required to cover the same region in the genome in the CR Guanacaste sample appeared to be weaker than that observed in CEU, JPT+CHB and NA reference samples but stronger than that of the HapMap YRI sample. Based on the clustering pattern observed in both STRUCTURE and principal components analysis, two subpopulations were identified that differ by approximately 20% in LD block size averaged over all LD blocks identified by Haploview. We also show in a simulated association study conducted within the two subpopulations, that the failure to account for population stratification (PS could lead to a noticeable inflation in the false positive rate. However, we further demonstrate that existing PS adjustment approaches can reduce the inflation to an acceptable level for gene discovery.

  19. Proteome-level assessment of origin, prevalence and function of Leucine-Aspartic Acid (LD) motifs

    KAUST Repository

    Alam, Tanvir

    2018-03-11

    Short Linear Motifs (SLiMs) contribute to almost every cellular function by connecting appropriate protein partners. Accurate prediction of SLiMs is difficult due to their shortness and sequence degeneracy. Leucine-aspartic acid (LD) motifs are SLiMs that link paxillin family proteins to factors controlling (cancer) cell adhesion, motility and survival. The existence and importance of LD motifs beyond the paxillin family is poorly understood. To enable a proteome-wide assessment of these motifs, we developed an active-learning based framework that iteratively integrates computational predictions with experimental validation. Our analysis of the human proteome identified a dozen proteins that contain LD motifs, all being involved in cell adhesion and migration, and revealed a new type of inverse LD motif consensus. Our evolutionary analysis suggested that LD motif signalling originated in the common unicellular ancestor of opisthokonts and amoebozoa by co-opting nuclear export sequences. Inter-species comparison revealed a conserved LD signalling core, and reveals the emergence of species-specific adaptive connections, while maintaining a strong functional focus of the LD motif interactome. Collectively, our data elucidate the mechanisms underlying the origin and adaptation of an ancestral SLiM.

  20. Nonparametric functional mapping of quantitative trait loci.

    Science.gov (United States)

    Yang, Jie; Wu, Rongling; Casella, George

    2009-03-01

    Functional mapping is a useful tool for mapping quantitative trait loci (QTL) that control dynamic traits. It incorporates mathematical aspects of biological processes into the mixture model-based likelihood setting for QTL mapping, thus increasing the power of QTL detection and the precision of parameter estimation. However, in many situations there is no obvious functional form and, in such cases, this strategy will not be optimal. Here we propose to use nonparametric function estimation, typically implemented with B-splines, to estimate the underlying functional form of phenotypic trajectories, and then construct a nonparametric test to find evidence of existing QTL. Using the representation of a nonparametric regression as a mixed model, the final test statistic is a likelihood ratio test. We consider two types of genetic maps: dense maps and general maps, and the power of nonparametric functional mapping is investigated through simulation studies and demonstrated by examples.

  1. Spline methods for conversation equations

    International Nuclear Information System (INIS)

    Bottcher, C.; Strayer, M.R.

    1991-01-01

    The consider the numerical solution of physical theories, in particular hydrodynamics, which can be formulated as systems of conservation laws. To this end we briefly describe the Basis Spline and collocation methods, paying particular attention to representation theory, which provides discrete analogues of the continuum conservation and dispersion relations, and hence a rigorous understanding of errors and instabilities. On this foundation we propose an algorithm for hydrodynamic problems in which most linear and nonlinear instabilities are brought under control. Numerical examples are presented from one-dimensional relativistic hydrodynamics. 9 refs., 10 figs

  2. [Medical image elastic registration smoothed by unconstrained optimized thin-plate spline].

    Science.gov (United States)

    Zhang, Yu; Li, Shuxiang; Chen, Wufan; Liu, Zhexing

    2003-12-01

    Elastic registration of medical image is an important subject in medical image processing. Previous work has concentrated on selecting the corresponding landmarks manually and then using thin-plate spline interpolating to gain the elastic transformation. However, the landmarks extraction is always prone to error, which will influence the registration results. Localizing the landmarks manually is also difficult and time-consuming. We the optimization theory to improve the thin-plate spline interpolation, and based on it, used an automatic method to extract the landmarks. Combining these two steps, we have proposed an automatic, exact and robust registration method and have gained satisfactory registration results.

  3. PySpline: A Modern, Cross-Platform Program for the Processing of Raw Averaged XAS Edge and EXAFS Data

    International Nuclear Information System (INIS)

    Tenderholt, Adam; Hedman, Britt; Hodgson, Keith O.

    2007-01-01

    PySpline is a modern computer program for processing raw averaged XAS and EXAFS data using an intuitive approach which allows the user to see the immediate effect of various processing parameters on the resulting k- and R-space data. The Python scripting language and Qt and Qwt widget libraries were chosen to meet the design requirement that it be cross-platform (i.e. versions for Windows, Mac OS X, and Linux). PySpline supports polynomial pre- and post-edge background subtraction, splining of the EXAFS region with a multi-segment polynomial spline, and Fast Fourier Transform (FFT) of the resulting k3-weighted EXAFS data

  4. Improving learning with science and social studies text using computer-based concept maps for students with disabilities.

    Science.gov (United States)

    Ciullo, Stephen; Falcomata, Terry S; Pfannenstiel, Kathleen; Billingsley, Glenna

    2015-01-01

    Concept maps have been used to help students with learning disabilities (LD) improve literacy skills and content learning, predominantly in secondary school. However, despite increased access to classroom technology, no previous studies have examined the efficacy of computer-based concept maps to improve learning from informational text for students with LD in elementary school. In this study, we used a concurrent delayed multiple probe design to evaluate the interactive use of computer-based concept maps on content acquisition with science and social studies texts for Hispanic students with LD in Grades 4 and 5. Findings from this study suggest that students improved content knowledge during intervention relative to a traditional instruction baseline condition. Learning outcomes and social validity information are considered to inform recommendations for future research and the feasibility of classroom implementation. © The Author(s) 2014.

  5. Four new single nucleotide polymorphisms (SNPs) of toll-like ...

    African Journals Online (AJOL)

    In order to reveal the single nucleotide polymorphisms (SNPs), genotypes and allelic frequencies of each mutation site of TLR7 gene in Chinese native duck breeds, SNPs of duck TLR7 gene were detected by DNA sequencing. The genotypes of 465 native ducks from eight key protected duck breeds were determined by ...

  6. Regional Densification of a Global VTEC Model Based on B-Spline Representations

    Science.gov (United States)

    Erdogan, Eren; Schmidt, Michael; Dettmering, Denise; Goss, Andreas; Seitz, Florian; Börger, Klaus; Brandert, Sylvia; Görres, Barbara; Kersten, Wilhelm F.; Bothmer, Volker; Hinrichs, Johannes; Mrotzek, Niclas

    2017-04-01

    The project OPTIMAP is a joint initiative of the Bundeswehr GeoInformation Centre (BGIC), the German Space Situational Awareness Centre (GSSAC), the German Geodetic Research Institute of the Technical University Munich (DGFI-TUM) and the Institute for Astrophysics at the University of Göttingen (IAG). The main goal of the project is the development of an operational tool for ionospheric mapping and prediction (OPTIMAP). Two key features of the project are the combination of different satellite observation techniques (GNSS, satellite altimetry, radio occultations and DORIS) and the regional densification as a remedy against problems encountered with the inhomogeneous data distribution. Since the data from space-geoscientific mission which can be used for modeling ionospheric parameters, such as the Vertical Total Electron Content (VTEC) or the electron density, are distributed rather unevenly over the globe at different altitudes, appropriate modeling approaches have to be developed to handle this inhomogeneity. Our approach is based on a two-level strategy. To be more specific, in the first level we compute a global VTEC model with a moderate regional and spectral resolution which will be complemented in the second level by a regional model in a densification area. The latter is a region characterized by a dense data distribution to obtain a high spatial and spectral resolution VTEC product. Additionally, the global representation means a background model for the regional one to avoid edge effects at the boundaries of the densification area. The presented approach based on a global and a regional model part, i.e. the consideration of a regional densification is called the Two-Level VTEC Model (TLVM). The global VTEC model part is based on a series expansion in terms of polynomial B-Splines in latitude direction and trigonometric B-Splines in longitude direction. The additional regional model part is set up by a series expansion in terms of polynomial B-splines for

  7. Genotyping of 75 SNPs using arrays for individual identification in five population groups.

    Science.gov (United States)

    Hwa, Hsiao-Lin; Wu, Lawrence Shih Hsin; Lin, Chun-Yen; Huang, Tsun-Ying; Yin, Hsiang-I; Tseng, Li-Hui; Lee, James Chun-I

    2016-01-01

    Single nucleotide polymorphism (SNP) typing offers promise to forensic genetics. Various strategies and panels for analyzing SNP markers for individual identification have been published. However, the best panels with fewer identity SNPs for all major population groups are still under discussion. This study aimed to find more autosomal SNPs with high heterozygosity for individual identification among Asian populations. Ninety-six autosomal SNPs of 502 DNA samples from unrelated individuals of five population groups (208 Taiwanese Han, 83 Filipinos, 62 Thais, 69 Indonesians, and 80 individuals with European, Near Eastern, or South Asian ancestry) were analyzed using arrays in an initial screening, and 75 SNPs (group A, 46 newly selected SNPs; groups B, 29 SNPs based on a previous SNP panel) were selected for further statistical analyses. Some SNPs with high heterozygosity from Asian populations were identified. The combined random match probability of the best 40 and 45 SNPs was between 3.16 × 10(-17) and 7.75 × 10(-17) and between 2.33 × 10(-19) and 7.00 × 10(-19), respectively, in all five populations. These loci offer comparable power to short tandem repeats (STRs) for routine forensic profiling. In this study, we demonstrated the population genetic characteristics and forensic parameters of 75 SNPs with high heterozygosity from five population groups. This SNPs panel can provide valuable genotypic information and can be helpful in forensic casework for individual identification among these populations.

  8. Spline smoothing of histograms by linear programming

    Science.gov (United States)

    Bennett, J. O.

    1972-01-01

    An algorithm for an approximating function to the frequency distribution is obtained from a sample of size n. To obtain the approximating function a histogram is made from the data. Next, Euclidean space approximations to the graph of the histogram using central B-splines as basis elements are obtained by linear programming. The approximating function has area one and is nonnegative.

  9. C2-rational cubic spline involving tension parameters

    Indian Academy of Sciences (India)

    preferred which preserves some of the characteristics of the function to be interpolated. In order to tackle such ... Shape preserving properties of the rational (cubic/quadratic) spline interpolant have been studied ... tension parameters which is used to interpolate the given monotonic data is described in. [6]. Shape preserving ...

  10. Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.

    Directory of Open Access Journals (Sweden)

    Clive J Hoggart

    2008-07-01

    Full Text Available Testing one SNP at a time does not fully realise the potential of genome-wide association studies to identify multiple causal variants, which is a plausible scenario for many complex diseases. We show that simultaneous analysis of the entire set of SNPs from a genome-wide study to identify the subset that best predicts disease outcome is now feasible, thanks to developments in stochastic search methods. We used a Bayesian-inspired penalised maximum likelihood approach in which every SNP can be considered for additive, dominant, and recessive contributions to disease risk. Posterior mode estimates were obtained for regression coefficients that were each assigned a prior with a sharp mode at zero. A non-zero coefficient estimate was interpreted as corresponding to a significant SNP. We investigated two prior distributions and show that the normal-exponential-gamma prior leads to improved SNP selection in comparison with single-SNP tests. We also derived an explicit approximation for type-I error that avoids the need to use permutation procedures. As well as genome-wide analyses, our method is well-suited to fine mapping with very dense SNP sets obtained from re-sequencing and/or imputation. It can accommodate quantitative as well as case-control phenotypes, covariate adjustment, and can be extended to search for interactions. Here, we demonstrate the power and empirical type-I error of our approach using simulated case-control data sets of up to 500 K SNPs, a real genome-wide data set of 300 K SNPs, and a sequence-based dataset, each of which can be analysed in a few hours on a desktop workstation.

  11. Identification of SNPs in chemerin gene and association with ...

    African Journals Online (AJOL)

    Chemerin is a novel adipokine that regulates adipogenesis and adipocyte metabolism via its own receptor. In this study, two novel SNPs (868A>G in exon 2 and 2692C>T in exon 5) of chemerin gene were identified by PCR-SSCP and DNA sequencing technology. The allele frequencies of the novel SNPs were determined ...

  12. Spline function fit for multi-sets of correlative data

    International Nuclear Information System (INIS)

    Liu Tingjin; Zhou Hongmo

    1992-01-01

    The Spline fit method for multi-sets of correlative data is developed. The properties of correlative data fit are investigated. The data of 23 Na(n, 2n) cross section are fitted in the cases with and without correlation

  13. A fractional spline collocation-Galerkin method for the time-fractional diffusion equation

    Directory of Open Access Journals (Sweden)

    Pezza L.

    2018-03-01

    Full Text Available The aim of this paper is to numerically solve a diffusion differential problem having time derivative of fractional order. To this end we propose a collocation-Galerkin method that uses the fractional splines as approximating functions. The main advantage is in that the derivatives of integer and fractional order of the fractional splines can be expressed in a closed form that involves just the generalized finite difference operator. This allows us to construct an accurate and efficient numerical method. Several numerical tests showing the effectiveness of the proposed method are presented.

  14. Preconditioning cubic spline collocation method by FEM and FDM for elliptic equations

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sang Dong [KyungPook National Univ., Taegu (Korea, Republic of)

    1996-12-31

    In this talk we discuss the finite element and finite difference technique for the cubic spline collocation method. For this purpose, we consider the uniformly elliptic operator A defined by Au := -{Delta}u + a{sub 1}u{sub x} + a{sub 2}u{sub y} + a{sub 0}u in {Omega} (the unit square) with Dirichlet or Neumann boundary conditions and its discretization based on Hermite cubic spline spaces and collocation at the Gauss points. Using an interpolatory basis with support on the Gauss points one obtains the matrix A{sub N} (h = 1/N).

  15. Piecewise linear regression splines with hyperbolic covariates

    International Nuclear Information System (INIS)

    Cologne, John B.; Sposto, Richard

    1992-09-01

    Consider the problem of fitting a curve to data that exhibit a multiphase linear response with smooth transitions between phases. We propose substituting hyperbolas as covariates in piecewise linear regression splines to obtain curves that are smoothly joined. The method provides an intuitive and easy way to extend the two-phase linear hyperbolic response model of Griffiths and Miller and Watts and Bacon to accommodate more than two linear segments. The resulting regression spline with hyperbolic covariates may be fit by nonlinear regression methods to estimate the degree of curvature between adjoining linear segments. The added complexity of fitting nonlinear, as opposed to linear, regression models is not great. The extra effort is particularly worthwhile when investigators are unwilling to assume that the slope of the response changes abruptly at the join points. We can also estimate the join points (the values of the abscissas where the linear segments would intersect if extrapolated) if their number and approximate locations may be presumed known. An example using data on changing age at menarche in a cohort of Japanese women illustrates the use of the method for exploratory data analysis. (author)

  16. Design of a bovine low-density SNP array optimized for imputation.

    Directory of Open Access Journals (Sweden)

    Didier Boichard

    Full Text Available The Illumina BovineLD BeadChip was designed to support imputation to higher density genotypes in dairy and beef breeds by including single-nucleotide polymorphisms (SNPs that had a high minor allele frequency as well as uniform spacing across the genome except at the ends of the chromosome where densities were increased. The chip also includes SNPs on the Y chromosome and mitochondrial DNA loci that are useful for determining subspecies classification and certain paternal and maternal breed lineages. The total number of SNPs was 6,909. Accuracy of imputation to Illumina BovineSNP50 genotypes using the BovineLD chip was over 97% for most dairy and beef populations. The BovineLD imputations were about 3 percentage points more accurate than those from the Illumina GoldenGate Bovine3K BeadChip across multiple populations. The improvement was greatest when neither parent was genotyped. The minor allele frequencies were similar across taurine beef and dairy breeds as was the proportion of SNPs that were polymorphic. The new BovineLD chip should facilitate low-cost genomic selection in taurine beef and dairy cattle.

  17. Kinetic energy classification and smoothing for compact B-spline basis sets in quantum Monte Carlo

    Science.gov (United States)

    Krogel, Jaron T.; Reboredo, Fernando A.

    2018-01-01

    Quantum Monte Carlo calculations of defect properties of transition metal oxides have become feasible in recent years due to increases in computing power. As the system size has grown, availability of on-node memory has become a limiting factor. Saving memory while minimizing computational cost is now a priority. The main growth in memory demand stems from the B-spline representation of the single particle orbitals, especially for heavier elements such as transition metals where semi-core states are present. Despite the associated memory costs, splines are computationally efficient. In this work, we explore alternatives to reduce the memory usage of splined orbitals without significantly affecting numerical fidelity or computational efficiency. We make use of the kinetic energy operator to both classify and smooth the occupied set of orbitals prior to splining. By using a partitioning scheme based on the per-orbital kinetic energy distributions, we show that memory savings of about 50% is possible for select transition metal oxide systems. For production supercells of practical interest, our scheme incurs a performance penalty of less than 5%.

  18. A method for fitting regression splines with varying polynomial order in the linear mixed model.

    Science.gov (United States)

    Edwards, Lloyd J; Stewart, Paul W; MacDougall, James E; Helms, Ronald W

    2006-02-15

    The linear mixed model has become a widely used tool for longitudinal analysis of continuous variables. The use of regression splines in these models offers the analyst additional flexibility in the formulation of descriptive analyses, exploratory analyses and hypothesis-driven confirmatory analyses. We propose a method for fitting piecewise polynomial regression splines with varying polynomial order in the fixed effects and/or random effects of the linear mixed model. The polynomial segments are explicitly constrained by side conditions for continuity and some smoothness at the points where they join. By using a reparameterization of this explicitly constrained linear mixed model, an implicitly constrained linear mixed model is constructed that simplifies implementation of fixed-knot regression splines. The proposed approach is relatively simple, handles splines in one variable or multiple variables, and can be easily programmed using existing commercial software such as SAS or S-plus. The method is illustrated using two examples: an analysis of longitudinal viral load data from a study of subjects with acute HIV-1 infection and an analysis of 24-hour ambulatory blood pressure profiles.

  19. Modelling subject-specific childhood growth using linear mixed-effect models with cubic regression splines.

    Science.gov (United States)

    Grajeda, Laura M; Ivanescu, Andrada; Saito, Mayuko; Crainiceanu, Ciprian; Jaganath, Devan; Gilman, Robert H; Crabtree, Jean E; Kelleher, Dermott; Cabrera, Lilia; Cama, Vitaliano; Checkley, William

    2016-01-01

    Childhood growth is a cornerstone of pediatric research. Statistical models need to consider individual trajectories to adequately describe growth outcomes. Specifically, well-defined longitudinal models are essential to characterize both population and subject-specific growth. Linear mixed-effect models with cubic regression splines can account for the nonlinearity of growth curves and provide reasonable estimators of population and subject-specific growth, velocity and acceleration. We provide a stepwise approach that builds from simple to complex models, and account for the intrinsic complexity of the data. We start with standard cubic splines regression models and build up to a model that includes subject-specific random intercepts and slopes and residual autocorrelation. We then compared cubic regression splines vis-à-vis linear piecewise splines, and with varying number of knots and positions. Statistical code is provided to ensure reproducibility and improve dissemination of methods. Models are applied to longitudinal height measurements in a cohort of 215 Peruvian children followed from birth until their fourth year of life. Unexplained variability, as measured by the variance of the regression model, was reduced from 7.34 when using ordinary least squares to 0.81 (p linear mixed-effect models with random slopes and a first order continuous autoregressive error term. There was substantial heterogeneity in both the intercept (p modeled with a first order continuous autoregressive error term as evidenced by the variogram of the residuals and by a lack of association among residuals. The final model provides a parametric linear regression equation for both estimation and prediction of population- and individual-level growth in height. We show that cubic regression splines are superior to linear regression splines for the case of a small number of knots in both estimation and prediction with the full linear mixed effect model (AIC 19,352 vs. 19

  20. The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein-protein interactions.

    Science.gov (United States)

    Yates, Christopher M; Sternberg, Michael J E

    2013-11-01

    Non-synonymous single nucleotide polymorphisms (nsSNPs) are single base changes leading to a change to the amino acid sequence of the encoded protein. Many of these variants are associated with disease, so nsSNPs have been well studied, with studies looking at the effects of nsSNPs on individual proteins, for example, on stability and enzyme active sites. In recent years, the impact of nsSNPs upon protein-protein interactions has also been investigated, giving a greater insight into the mechanisms by which nsSNPs can lead to disease. In this review, we summarize these studies, looking at the various mechanisms by which nsSNPs can affect protein-protein interactions. We focus on structural changes that can impair interaction, changes to disorder, gain of interaction, and post-translational modifications before looking at some examples of nsSNPs at human-pathogen protein-protein interfaces and the analysis of nsSNPs from a network perspective. © 2013.

  1. The basis spline method and associated techniques

    International Nuclear Information System (INIS)

    Bottcher, C.; Strayer, M.R.

    1989-01-01

    We outline the Basis Spline and Collocation methods for the solution of Partial Differential Equations. Particular attention is paid to the theory of errors, and the handling of non-self-adjoint problems which are generated by the collocation method. We discuss applications to Poisson's equation, the Dirac equation, and the calculation of bound and continuum states of atomic and nuclear systems. 12 refs., 6 figs

  2. Comparative Performance of Complex-Valued B-Spline and Polynomial Models Applied to Iterative Frequency-Domain Decision Feedback Equalization of Hammerstein Channels.

    Science.gov (United States)

    Chen, Sheng; Hong, Xia; Khalaf, Emad F; Alsaadi, Fuad E; Harris, Chris J

    2017-12-01

    Complex-valued (CV) B-spline neural network approach offers a highly effective means for identifying and inverting practical Hammerstein systems. Compared with its conventional CV polynomial-based counterpart, a CV B-spline neural network has superior performance in identifying and inverting CV Hammerstein systems, while imposing a similar complexity. This paper reviews the optimality of the CV B-spline neural network approach. Advantages of B-spline neural network approach as compared with the polynomial based modeling approach are extensively discussed, and the effectiveness of the CV neural network-based approach is demonstrated in a real-world application. More specifically, we evaluate the comparative performance of the CV B-spline and polynomial-based approaches for the nonlinear iterative frequency-domain decision feedback equalization (NIFDDFE) of single-carrier Hammerstein channels. Our results confirm the superior performance of the CV B-spline-based NIFDDFE over its CV polynomial-based counterpart.

  3. Application of thin plate splines for accurate regional ionosphere modeling with multi-GNSS data

    Science.gov (United States)

    Krypiak-Gregorczyk, Anna; Wielgosz, Pawel; Borkowski, Andrzej

    2016-04-01

    GNSS-derived regional ionosphere models are widely used in both precise positioning, ionosphere and space weather studies. However, their accuracy is often not sufficient to support precise positioning, RTK in particular. In this paper, we presented new approach that uses solely carrier phase multi-GNSS observables and thin plate splines (TPS) for accurate ionospheric TEC modeling. TPS is a closed solution of a variational problem minimizing both the sum of squared second derivatives of a smoothing function and the deviation between data points and this function. This approach is used in UWM-rt1 regional ionosphere model developed at UWM in Olsztyn. The model allows for providing ionospheric TEC maps with high spatial and temporal resolutions - 0.2x0.2 degrees and 2.5 minutes, respectively. For TEC estimation, EPN and EUPOS reference station data is used. The maps are available with delay of 15-60 minutes. In this paper we compare the performance of UWM-rt1 model with IGS global and CODE regional ionosphere maps during ionospheric storm that took place on March 17th, 2015. During this storm, the TEC level over Europe doubled comparing to earlier quiet days. The performance of the UWM-rt1 model was validated by (a) comparison to reference double-differenced ionospheric corrections over selected baselines, and (b) analysis of post-fit residuals to calibrated carrier phase geometry-free observational arcs at selected test stations. The results show a very good performance of UWM-rt1 model. The obtained post-fit residuals in case of UWM maps are lower by one order of magnitude comparing to IGS maps. The accuracy of UWM-rt1 -derived TEC maps is estimated at 0.5 TECU. This may be directly translated to the user positioning domain.

  4. Demonstration of accuracy and clinical versatility of mutual information for automatic multimodality image fusion using affine and thin-plate spline warped geometric deformations.

    Science.gov (United States)

    Meyer, C R; Boes, J L; Kim, B; Bland, P H; Zasadny, K R; Kison, P V; Koral, K; Frey, K A; Wahl, R L

    1997-04-01

    This paper applies and evaluates an automatic mutual information-based registration algorithm across a broad spectrum of multimodal volume data sets. The algorithm requires little or no pre-processing, minimal user input and easily implements either affine, i.e. linear or thin-plate spline (TPS) warped registrations. We have evaluated the algorithm in phantom studies as well as in selected cases where few other algorithms could perform as well, if at all, to demonstrate the value of this new method. Pairs of multimodal gray-scale volume data sets were registered by iteratively changing registration parameters to maximize mutual information. Quantitative registration errors were assessed in registrations of a thorax phantom using PET/CT and in the National Library of Medicine's Visible Male using MRI T2-/T1-weighted acquisitions. Registrations of diverse clinical data sets were demonstrated including rotate-translate mapping of PET/MRI brain scans with significant missing data, full affine mapping of thoracic PET/CT and rotate-translate mapping of abdominal SPECT/CT. A five-point thin-plate spline (TPS) warped registration of thoracic PET/CT is also demonstrated. The registration algorithm converged in times ranging between 3.5 and 31 min for affine clinical registrations and 57 min for TPS warping. Mean error vector lengths for rotate-translate registrations were measured to be subvoxel in phantoms. More importantly the rotate-translate algorithm performs well even with missing data. The demonstrated clinical fusions are qualitatively excellent at all levels. We conclude that such automatic, rapid, robust algorithms significantly increase the likelihood that multimodality registrations will be routinely used to aid clinical diagnoses and post-therapeutic assessment in the near future.

  5. Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer’s Disease

    Directory of Open Access Journals (Sweden)

    Tariq Ahmad Masoodi

    2012-01-01

    Full Text Available Introduction. Apolipoprotein E (APOE is an important risk factor for Alzheimer’s disease (AD and is present in 30–50% of patients who develop late-onset AD. Several single-nucleotide polymorphisms (SNPs are present in APOE gene which act as the biomarkers for exploring the genetic basis of this disease. The objective of this study is to identify deleterious nsSNPs associated with APOE gene. Methods. The SNPs were retrieved from dbSNP. Using I-Mutant, protein stability change was calculated. The potentially functional nonsynonymous (ns SNPs and their effect on protein was predicted by PolyPhen and SIFT, respectively. FASTSNP was used for functional analysis and estimation of risk score. The functional impact on the APOE protein was evaluated by using Swiss PDB viewer and NOMAD-Ref server. Results. Six nsSNPs were found to be least stable by I-Mutant 2.0 with DDG value of >−1.0. Four nsSNPs showed a highly deleterious tolerance index score of 0.00. Nine nsSNPs were found to be probably damaging with position-specific independent counts (PSICs score of ≥2.0. Seven nsSNPs were found to be highly polymorphic with a risk score of 3-4. The total energies and root-mean-square deviation (RMSD values were higher for three mutant-type structures compared to the native modeled structure. Conclusion. We concluded that three nsSNPs, namely, rs11542041, rs11542040, and rs11542034, to be potentially functional polymorphic.

  6. Differential constraints for bounded recursive identification with multivariate splines

    NARCIS (Netherlands)

    De Visser, C.C.; Chu, Q.P.; Mulder, J.A.

    2011-01-01

    The ability to perform online model identification for nonlinear systems with unknown dynamics is essential to any adaptive model-based control system. In this paper, a new differential equality constrained recursive least squares estimator for multivariate simplex splines is presented that is able

  7. Enhanced spatio-temporal alignment of plantar pressure image sequences using B-splines.

    Science.gov (United States)

    Oliveira, Francisco P M; Tavares, João Manuel R S

    2013-03-01

    This article presents an enhanced methodology to align plantar pressure image sequences simultaneously in time and space. The temporal alignment of the sequences is accomplished using B-splines in the time modeling, and the spatial alignment can be attained using several geometric transformation models. The methodology was tested on a dataset of 156 real plantar pressure image sequences (3 sequences for each foot of the 26 subjects) that was acquired using a common commercial plate during barefoot walking. In the alignment of image sequences that were synthetically deformed both in time and space, an outstanding accuracy was achieved with the cubic B-splines. This accuracy was significantly better (p align real image sequences with unknown transformation involved, the alignment based on cubic B-splines also achieved superior results than our previous methodology (p alignment on the dynamic center of pressure (COP) displacement was also assessed by computing the intraclass correlation coefficients (ICC) before and after the temporal alignment of the three image sequence trials of each foot of the associated subject at six time instants. The results showed that, generally, the ICCs related to the medio-lateral COP displacement were greater when the sequences were temporally aligned than the ICCs of the original sequences. Based on the experimental findings, one can conclude that the cubic B-splines are a remarkable solution for the temporal alignment of plantar pressure image sequences. These findings also show that the temporal alignment can increase the consistency of the COP displacement on related acquired plantar pressure image sequences.

  8. A Bayesian-optimized spline representation of the electrocardiogram

    International Nuclear Information System (INIS)

    Guilak, F G; McNames, J

    2013-01-01

    We introduce an implementation of a novel spline framework for parametrically representing electrocardiogram (ECG) waveforms. This implementation enables a flexible means to study ECG structure in large databases. Our algorithm allows researchers to identify key points in the waveform and optimally locate them in long-term recordings with minimal manual effort, thereby permitting analysis of trends in the points themselves or in metrics derived from their locations. In the work described here we estimate the location of a number of commonly-used characteristic points of the ECG signal, defined as the onsets, peaks, and offsets of the P, QRS, T, and R′ waves. The algorithm applies Bayesian optimization to a linear spline representation of the ECG waveform. The location of the knots—which are the endpoints of the piecewise linear segments used in the spline representation of the signal—serve as the estimate of the waveform’s characteristic points. We obtained prior information of knot times, amplitudes, and curvature from a large manually-annotated training dataset and used the priors to optimize a Bayesian figure of merit based on estimated knot locations. In cases where morphologies vary or are subject to noise, the algorithm relies more heavily on the estimated priors for its estimate of knot locations. We compared optimized knot locations from our algorithm to two sets of manual annotations on a prospective test data set comprising 200 beats from 20 subjects not in the training set. Mean errors of characteristic point locations were less than four milliseconds, and standard deviations of errors compared favorably against reference values. This framework can easily be adapted to include additional points of interest in the ECG signal or for other biomedical detection problems on quasi-periodic signals. (paper)

  9. B-spline tight frame based force matching method

    Science.gov (United States)

    Yang, Jianbin; Zhu, Guanhua; Tong, Dudu; Lu, Lanyuan; Shen, Zuowei

    2018-06-01

    In molecular dynamics simulations, compared with popular all-atom force field approaches, coarse-grained (CG) methods are frequently used for the rapid investigations of long time- and length-scale processes in many important biological and soft matter studies. The typical task in coarse-graining is to derive interaction force functions between different CG site types in terms of their distance, bond angle or dihedral angle. In this paper, an ℓ1-regularized least squares model is applied to form the force functions, which makes additional use of the B-spline wavelet frame transform in order to preserve the important features of force functions. The B-spline tight frames system has a simple explicit expression which is useful for representing our force functions. Moreover, the redundancy of the system offers more resilience to the effects of noise and is useful in the case of lossy data. Numerical results for molecular systems involving pairwise non-bonded, three and four-body bonded interactions are obtained to demonstrate the effectiveness of our approach.

  10. Formative assessment with IMS LD and IMS QTI

    NARCIS (Netherlands)

    Tattersall, Colin; Burgos, Daniel; Vogten, Hubert

    2006-01-01

    The presentation descibes work on the integtation of LD and QTI, and the realisation of this research via CCSI. Furthermore, the presentation describes ongoing work in TENCompetence in the area of assessment.

  11. Choosing the Optimal Number of B-spline Control Points (Part 1: Methodology and Approximation of Curves)

    Science.gov (United States)

    Harmening, Corinna; Neuner, Hans

    2016-09-01

    Due to the establishment of terrestrial laser scanner, the analysis strategies in engineering geodesy change from pointwise approaches to areal ones. These areal analysis strategies are commonly built on the modelling of the acquired point clouds. Freeform curves and surfaces like B-spline curves/surfaces are one possible approach to obtain space continuous information. A variety of parameters determines the B-spline's appearance; the B-spline's complexity is mostly determined by the number of control points. Usually, this number of control points is chosen quite arbitrarily by intuitive trial-and-error-procedures. In this paper, the Akaike Information Criterion and the Bayesian Information Criterion are investigated with regard to a justified and reproducible choice of the optimal number of control points of B-spline curves. Additionally, we develop a method which is based on the structural risk minimization of the statistical learning theory. Unlike the Akaike and the Bayesian Information Criteria this method doesn't use the number of parameters as complexity measure of the approximating functions but their Vapnik-Chervonenkis-dimension. Furthermore, it is also valid for non-linear models. Thus, the three methods differ in their target function to be minimized and consequently in their definition of optimality. The present paper will be continued by a second paper dealing with the choice of the optimal number of control points of B-spline surfaces.

  12. Single Nucleotide Polymorphism Identification, Characterization, and Linkage Mapping in Quinoa

    Directory of Open Access Journals (Sweden)

    P. J. Maughan

    2012-11-01

    Full Text Available Quinoa ( Willd. is an important seed crop throughout the Andean region of South America. It is important as a regional food security crop for millions of impoverished rural inhabitants of the Andean Altiplano (high plains. Efforts to improve the crop have led to an increased focus on genetic research. We report the identification of 14,178 putative single nucleotide polymorphisms (SNPs using a genomic reduction protocol as well as the development of 511 functional SNP assays. The SNP assays are based on KASPar genotyping chemistry and were detected using the Fluidigm dynamic array platform. A diversity screen of 113 quinoa accessions showed that the minor allele frequency (MAF of the SNPs ranged from 0.02 to 0.50, with an average MAF of 0.28. Structure analysis of the quinoa diversity panel uncovered the two major subgroups corresponding to the Andean and coastal quinoa ecotypes. Linkage mapping of the SNPs in two recombinant inbred line populations produced an integrated linkage map consisting of 29 linkage groups with 20 large linkage groups, spanning 1404 cM with a marker density of 3.1 cM per SNP marker. The SNPs identified here represent important genomic tools needed in emerging plant breeding programs for advanced genetic analysis of agronomic traits in quinoa.

  13. Multivariate Epi-splines and Evolving Function Identification Problems

    Science.gov (United States)

    2015-04-15

    such extrinsic information as well as observed function and subgradient values often evolve in applications, we establish conditions under which the...previous study [30] dealt with compact intervals of IR. Splines are intimately tied to optimization problems through their variational theory pioneered...approxima- tion. Motivated by applications in curve fitting, regression, probability density estimation, variogram computation, financial curve construction

  14. Splines under tension for gridding three-dimensional data

    International Nuclear Information System (INIS)

    Brand, H.R.; Frazer, J.W.

    1982-01-01

    By use of the splines-under-tension concept, a simple algorithm has been developed for the three-dimensional representation of nonuniformly spaced data. The representations provide useful information to the experimentalist when he is attempting to understand the results obtained in a self-adaptive experiment. The shortcomings of the algorithm are discussed as well as the advantages

  15. Domain altering SNPs in the human proteome and their impact on signaling pathways.

    Directory of Open Access Journals (Sweden)

    Yichuan Liu

    Full Text Available Single nucleotide polymorphisms (SNPs constitute an important mode of genetic variations observed in the human genome. A small fraction of SNPs, about four thousand out of the ten million, has been associated with genetic disorders and complex diseases. The present study focuses on SNPs that fall on protein domains, 3D structures that facilitate connectivity of proteins in cell signaling and metabolic pathways. We scanned the human proteome using the PROSITE web tool and identified proteins with SNP containing domains. We showed that SNPs that fall on protein domains are highly statistically enriched among SNPs linked to hereditary disorders and complex diseases. Proteins whose domains are dramatically altered by the presence of an SNP are even more likely to be present among proteins linked to hereditary disorders. Proteins with domain-altering SNPs comprise highly connected nodes in cellular pathways such as the focal adhesion, the axon guidance pathway and the autoimmune disease pathways. Statistical enrichment of domain/motif signatures in interacting protein pairs indicates extensive loss of connectivity of cell signaling pathways due to domain-altering SNPs, potentially leading to hereditary disorders.

  16. Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

    Directory of Open Access Journals (Sweden)

    Mengmeng Du

    Full Text Available Genome-wide association studies (GWAS have identified many common single nucleotide polymorphisms (SNPs associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project. We tested single-variant associations with colorectal tumor risk for all variants spanning genomic regions 250-kb upstream or downstream of 31 GWAS-identified SNPs (index SNPs. We queried the University of California, Santa Cruz Genome Browser to examine evidence for biological function. Index SNPs did not show the strongest association signals with colorectal tumor risk in their respective genomic regions. Bioinformatics analysis of SNPs showing smaller P-values in each region revealed 21 functional candidates in 12 loci (5q31.1, 8q24, 11q13.4, 11q23, 12p13.32, 12q24.21, 14q22.2, 15q13, 18q21, 19q13.1, 20p12.3, and 20q13.33. We did not observe evidence of additional independent association signals in GWAS-identified regions. Our results support the utility of integrating data from comprehensive fine-mapping with expanding publicly available genomic databases to help clarify GWAS associations and identify functional candidates that warrant more onerous laboratory follow-up. Such efforts may aid the eventual discovery of disease-causing variant(s.

  17. Effects of early activator treatment in patients with class II malocclusion evaluated by thin-plate spline analysis.

    Science.gov (United States)

    Lux, C J; Rübel, J; Starke, J; Conradt, C; Stellzig, P A; Komposch, P G

    2001-04-01

    The aim of the present longitudinal cephalometric study was to evaluate the dentofacial shape changes induced by activator treatment between 9.5 and 11.5 years in male Class II patients. For a rigorous morphometric analysis, a thin-plate spline analysis was performed to assess and visualize dental and skeletal craniofacial changes. Twenty male patients with a skeletal Class II malrelationship and increased overjet who had been treated at the University of Heidelberg with a modified Andresen-Häupl-type activator were compared with a control group of 15 untreated male subjects of the Belfast Growth Study. The shape changes for each group were visualized on thin-plate splines with one spline comprising all 13 landmarks to show all the craniofacial shape changes, including skeletal and dento-alveolar reactions, and a second spline based on 7 landmarks to visualize only the skeletal changes. In the activator group, the grid deformation of the total spline pointed to a strong activator-induced reduction of the overjet that was caused both by a tipping of the incisors and by a moderation of sagittal discrepancies, particularly a slight advancement of the mandible. In contrast with this, in the control group, only slight localized shape changes could be detected. Both in the 7- and 13-landmark configurations, the shape changes between the groups differed significantly at P thin-plate spline analysis turned out to be a useful morphometric supplement to conventional cephalometrics because the complex patterns of shape change could be suggestively visualized.

  18. SPLINE-FUNCTIONS IN THE TASK OF THE FLOW AIRFOIL PROFILE

    Directory of Open Access Journals (Sweden)

    Mikhail Lopatjuk

    2013-12-01

    Full Text Available The method and the algorithm of solving the problem of streamlining are presented. Neumann boundary problem is reduced to the solution of integral equations with given boundary conditions using the cubic spline-functions

  19. A genetic map and germplasm diversity estimation of Mangifera indica (mango) with SNPs

    Science.gov (United States)

    Mango (Mangifera indica) is often referred to as the “King of Fruits”. As the first steps in developing a mango genomics project, we genotyped 582 individuals comprising six mapping populations with 1054 SNP markers. The resulting consensus map had 20 linkage groups defined by 726 SNP markers with...

  20. Quintic hyperbolic nonpolynomial spline and finite difference method for nonlinear second order differential equations and its application

    Directory of Open Access Journals (Sweden)

    Navnit Jha

    2014-04-01

    Full Text Available An efficient numerical method based on quintic nonpolynomial spline basis and high order finite difference approximations has been presented. The scheme deals with the space containing hyperbolic and polynomial functions as spline basis. With the help of spline functions we derive consistency conditions and high order discretizations of the differential equation with the significant first order derivative. The error analysis of the new method is discussed briefly. The new method is analyzed for its efficiency using the physical problems. The order and accuracy of the proposed method have been analyzed in terms of maximum errors and root mean square errors.

  1. T-Spline Based Unifying Registration Procedure for Free-Form Surface Workpieces in Intelligent CMM

    Directory of Open Access Journals (Sweden)

    Zhenhua Han

    2017-10-01

    Full Text Available With the development of the modern manufacturing industry, the free-form surface is widely used in various fields, and the automatic detection of a free-form surface is an important function of future intelligent three-coordinate measuring machines (CMMs. To improve the intelligence of CMMs, a new visual system is designed based on the characteristics of CMMs. A unified model of the free-form surface is proposed based on T-splines. A discretization method of the T-spline surface formula model is proposed. Under this discretization, the position and orientation of the workpiece would be recognized by point cloud registration. A high accuracy evaluation method is proposed between the measured point cloud and the T-spline surface formula. The experimental results demonstrate that the proposed method has the potential to realize the automatic detection of different free-form surfaces and improve the intelligence of CMMs.

  2. Smoothing two-dimensional Malaysian mortality data using P-splines indexed by age and year

    Science.gov (United States)

    Kamaruddin, Halim Shukri; Ismail, Noriszura

    2014-06-01

    Nonparametric regression implements data to derive the best coefficient of a model from a large class of flexible functions. Eilers and Marx (1996) introduced P-splines as a method of smoothing in generalized linear models, GLMs, in which the ordinary B-splines with a difference roughness penalty on coefficients is being used in a single dimensional mortality data. Modeling and forecasting mortality rate is a problem of fundamental importance in insurance company calculation in which accuracy of models and forecasts are the main concern of the industry. The original idea of P-splines is extended to two dimensional mortality data. The data indexed by age of death and year of death, in which the large set of data will be supplied by Department of Statistics Malaysia. The extension of this idea constructs the best fitted surface and provides sensible prediction of the underlying mortality rate in Malaysia mortality case.

  3. Marginal longitudinal semiparametric regression via penalized splines

    KAUST Repository

    Al Kadiri, M.

    2010-08-01

    We study the marginal longitudinal nonparametric regression problem and some of its semiparametric extensions. We point out that, while several elaborate proposals for efficient estimation have been proposed, a relative simple and straightforward one, based on penalized splines, has not. After describing our approach, we then explain how Gibbs sampling and the BUGS software can be used to achieve quick and effective implementation. Illustrations are provided for nonparametric regression and additive models.

  4. Marginal longitudinal semiparametric regression via penalized splines

    KAUST Repository

    Al Kadiri, M.; Carroll, R.J.; Wand, M.P.

    2010-01-01

    We study the marginal longitudinal nonparametric regression problem and some of its semiparametric extensions. We point out that, while several elaborate proposals for efficient estimation have been proposed, a relative simple and straightforward one, based on penalized splines, has not. After describing our approach, we then explain how Gibbs sampling and the BUGS software can be used to achieve quick and effective implementation. Illustrations are provided for nonparametric regression and additive models.

  5. Application of multivariate splines to discrete mathematics

    OpenAIRE

    Xu, Zhiqiang

    2005-01-01

    Using methods developed in multivariate splines, we present an explicit formula for discrete truncated powers, which are defined as the number of non-negative integer solutions of linear Diophantine equations. We further use the formula to study some classical problems in discrete mathematics as follows. First, we extend the partition function of integers in number theory. Second, we exploit the relation between the relative volume of convex polytopes and multivariate truncated powers and giv...

  6. Evaluation of the OSI LD1200 optical diskdrive

    International Nuclear Information System (INIS)

    Burger, J.M.

    1986-01-01

    This document describes the testing of a laser-diskdrive of Optical Storage International, model LD1200. The aim was to test the hardware and media reliability and to verify some of the vendor supplied specifications. (Auth.)

  7. SNPs in PPARG associate with type 2 diabetes and interact with physical activity

    DEFF Research Database (Denmark)

    Oskari Kilpeläinen, Tuomas; Lakka, Timo A; Laaksonen, David E

    2008-01-01

    To study the associations of seven single-nucleotide polymorphisms (SNPs) in the peroxisome proliferator-activated receptor gamma (PPARG) gene with the conversion from impaired glucose tolerance (IGT) to type 2 diabetes (T2D), and the interactions of the SNPs with physical activity (PA).......To study the associations of seven single-nucleotide polymorphisms (SNPs) in the peroxisome proliferator-activated receptor gamma (PPARG) gene with the conversion from impaired glucose tolerance (IGT) to type 2 diabetes (T2D), and the interactions of the SNPs with physical activity (PA)....

  8. On using smoothing spline and residual correction to fuse rain gauge observations and remote sensing data

    Science.gov (United States)

    Huang, Chengcheng; Zheng, Xiaogu; Tait, Andrew; Dai, Yongjiu; Yang, Chi; Chen, Zhuoqi; Li, Tao; Wang, Zhonglei

    2014-01-01

    Partial thin-plate smoothing spline model is used to construct the trend surface.Correction of the spline estimated trend surface is often necessary in practice.Cressman weight is modified and applied in residual correction.The modified Cressman weight performs better than Cressman weight.A method for estimating the error covariance matrix of gridded field is provided.

  9. Numerical investigation on exterior conformal mappings with application to airfoils

    International Nuclear Information System (INIS)

    Mohamad Rashidi Md Razali; Hu Laey Nee

    2000-01-01

    A numerical method is described in computing a conformal map from an exterior region onto the exterior of the unit disk. The numerical method is based on a boundary integral equation which is similar to the Kerzman-Stein integral equation for interior mapping. Some examples show that numerical results of high accuracy can be obtained provided that the boundaries are smooth. This numerical method has been applied to the mapping airfoils. However, due to the fact that the parametric representation of an air foil is not known, a cubic spline interpolation method has been used. Some numerical examples with satisfying results have been obtained for the symmetrical and cambered airfoils. (Author)

  10. Impact of enhancin genes on potency of LdNPV in gypsy moth

    Science.gov (United States)

    Kelli Hoover; Jim McNeil; Alyssa Gendron; James. Slavicek

    2011-01-01

    Lymantria dispar nucleopolyhedrovirus (LdNPV) contains two enhancin genes (E1 and E2) encoding proteases that degrade key peritrophic matrix (PM) proteins, thereby promoting infection and mortality by the virus. In a previous study, gypsy moth larvae inoculated with LdNPV in which both E1 and E2 were deleted (double deletion virus) resulted in a non-...

  11. A spectral/B-spline method for the Navier-Stokes equations in unbounded domains

    CERN Document Server

    Dufresne, L

    2003-01-01

    The numerical method presented in this paper aims at solving the incompressible Navier-Stokes equations in unbounded domains. The problem is formulated in cylindrical coordinates and the method is based on a Galerkin approximation scheme that makes use of vector expansions that exactly satisfy the continuity constraint. More specifically, the divergence-free basis vector functions are constructed with Fourier expansions in the theta and z directions while mapped B-splines are used in the semi-infinite radial direction. Special care has been taken to account for the particular analytical behaviors at both end points r=0 and r-> infinity. A modal reduction algorithm has also been implemented in the azimuthal direction, allowing for a relaxation of the CFL constraint on the timestep size and a possibly significant reduction of the number of DOF. The time marching is carried out using a mixed quasi-third order scheme. Besides the advantages of a divergence-free formulation and a quasi-spectral convergence, the lo...

  12. Accuracy of genome-wide imputation of untyped markers and impacts on statistical power for association studies

    Directory of Open Access Journals (Sweden)

    McElwee Joshua

    2009-06-01

    Full Text Available Abstract Background Although high-throughput genotyping arrays have made whole-genome association studies (WGAS feasible, only a small proportion of SNPs in the human genome are actually surveyed in such studies. In addition, various SNP arrays assay different sets of SNPs, which leads to challenges in comparing results and merging data for meta-analyses. Genome-wide imputation of untyped markers allows us to address these issues in a direct fashion. Methods 384 Caucasian American liver donors were genotyped using Illumina 650Y (Ilmn650Y arrays, from which we also derived genotypes from the Ilmn317K array. On these data, we compared two imputation methods: MACH and BEAGLE. We imputed 2.5 million HapMap Release22 SNPs, and conducted GWAS on ~40,000 liver mRNA expression traits (eQTL analysis. In addition, 200 Caucasian American and 200 African American subjects were genotyped using the Affymetrix 500 K array plus a custom 164 K fill-in chip. We then imputed the HapMap SNPs and quantified the accuracy by randomly masking observed SNPs. Results MACH and BEAGLE perform similarly with respect to imputation accuracy. The Ilmn650Y results in excellent imputation performance, and it outperforms Affx500K or Ilmn317K sets. For Caucasian Americans, 90% of the HapMap SNPs were imputed at 98% accuracy. As expected, imputation of poorly tagged SNPs (untyped SNPs in weak LD with typed markers was not as successful. It was more challenging to impute genotypes in the African American population, given (1 shorter LD blocks and (2 admixture with Caucasian populations in this population. To address issue (2, we pooled HapMap CEU and YRI data as an imputation reference set, which greatly improved overall performance. The approximate 40,000 phenotypes scored in these populations provide a path to determine empirically how the power to detect associations is affected by the imputation procedures. That is, at a fixed false discovery rate, the number of cis

  13. Study on signal processing in Eddy current testing for defects in spline gear

    International Nuclear Information System (INIS)

    Lee, Jae Ho; Park, Tae Sug; Park, Ik Keun

    2016-01-01

    Eddy current testing (ECT) is commonly applied for the inspection of automated production lines of metallic products, because it has a high inspection speed and a reasonable price. When ECT is applied for the inspection of a metallic object having an uneven target surface, such as the spline gear of a spline shaft, it is difficult to distinguish between the original signal obtained from the sensor and the signal generated by a defect because of the relatively large surface signals having similar frequency distributions. To facilitate the detection of defect signals from the spline gear, implementation of high-order filters is essential, so that the fault signals can be distinguished from the surrounding noise signals, and simultaneously, the pass-band of the filter can be adjusted according to the status of each production line and the object to be inspected. We will examine the infinite impulse filters (IIR filters) available for implementing an advanced filter for ECT, and attempt to detect the flaw signals through optimization of system design parameters for detecting the signals at the system level

  14. Nils Silfverskiöld (1888-1957) and gastrocnemius contracture.

    Science.gov (United States)

    Singh, Dishan

    2013-06-01

    Nils Silfverskiöld was an orthopaedic surgeon, Swedish aristocrat, bon vivant, Olympic gymnast, left wing intellectual and anti-Nazi who described that the force required to dorsiflex the ankle in spastic equinus contracture decreased with knee flexion in isolated gastrocnemius contracture. He advocated detaching the origins of the gastrocnemii from the femur and reattaching them to the tibia. The Silfverskiöld knee flexion test has now also been adapted to distinguish between isolated gastrocnemius contracture and combined shortening of the gastrocnemius-soleus complex in non-spastic contracture by measuring the range of ankle dorsiflexion with the knee flexed and the knee straight. Copyright © 2012 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

  15. Comprehensive exploration of the effects of miRNA SNPs on monocyte gene expression.

    Directory of Open Access Journals (Sweden)

    Nicolas Greliche

    Full Text Available We aimed to assess whether pri-miRNA SNPs (miSNPs could influence monocyte gene expression, either through marginal association or by interacting with polymorphisms located in 3'UTR regions (3utrSNPs. We then conducted a genome-wide search for marginal miSNPs effects and pairwise miSNPs × 3utrSNPs interactions in a sample of 1,467 individuals for which genome-wide monocyte expression and genotype data were available. Statistical associations that survived multiple testing correction were tested for replication in an independent sample of 758 individuals with both monocyte gene expression and genotype data. In both studies, the hsa-mir-1279 rs1463335 was found to modulate in cis the expression of LYZ and in trans the expression of CNTN6, CTRC, COPZ2, KRT9, LRRFIP1, NOD1, PCDHA6, ST5 and TRAF3IP2 genes, supporting the role of hsa-mir-1279 as a regulator of several genes in monocytes. In addition, we identified two robust miSNPs × 3utrSNPs interactions, one involving HLA-DPB1 rs1042448 and hsa-mir-219-1 rs107822, the second the H1F0 rs1894644 and hsa-mir-659 rs5750504, modulating the expression of the associated genes.As some of the aforementioned genes have previously been reported to reside at disease-associated loci, our findings provide novel arguments supporting the hypothesis that the genetic variability of miRNAs could also contribute to the susceptibility to human diseases.

  16. Association analysis of PON2 genetic variants with serum paraoxonase activity and systemic lupus erythematosus

    Directory of Open Access Journals (Sweden)

    Manzi Susan

    2011-01-01

    Full Text Available Abstract Background Low serum paraoxonase (PON activity is associated with the risk of coronary artery disease, diabetes and systemic lupus erythematosus (SLE. Our prior studies have shown that the PON1/rs662 (p.Gln192Arg, PON1/rs854560 (p.Leu55Met, PON3/rs17884563 and PON3/rs740264 SNPs (single nucleotide polymorphisms significantly affect serum PON activity. Since PON1, PON2 and PON3 share high degree of structural and functional properties, in this study, we examined the role of PON2 genetic variation on serum PON activity, risk of SLE and SLE-related clinical manifestations in a Caucasian case-control sample. Methods PON2 SNPs were selected from HapMap and SeattleSNPs databases by including at least one tagSNP from each bin defined in these resources. A total of nineteen PON2 SNPs were successfully genotyped in 411 SLE cases and 511 healthy controls using pyrosequencing, restriction fragment length polymorphism (RFLP or TaqMan allelic discrimination methods. Results Our pair-wise linkage disequilibrium (LD analysis, using an r2 cutoff of 0.7, identified 14 PON2 tagSNPs that captured all 19 PON2 variants in our sample, 12 of which were not in high LD with known PON1 and PON3 SNP modifiers of PON activity. Stepwise regression analysis of PON activity, including the known modifiers, identified five PON2 SNPs [rs6954345 (p.Ser311Cys, rs13306702, rs987539, rs11982486, and rs4729189; P = 0.005 to 2.1 × 10-6] that were significantly associated with PON activity. We found no association of PON2 SNPs with SLE risk but modest associations were observed with lupus nephritis (rs11981433, rs17876205, rs17876183 and immunologic disorder (rs11981433 in SLE patients (P = 0.013 to 0.042. Conclusions Our data indicate that PON2 genetic variants significantly affect variation in serum PON activity and have modest effects on risk of lupus nephritis and SLE-related immunologic disorder.

  17. A thin-plate spline analysis of the face and tongue in obstructive sleep apnea patients.

    Science.gov (United States)

    Pae, E K; Lowe, A A; Fleetham, J A

    1997-12-01

    The shape characteristics of the face and tongue in obstructive sleep apnea (OSA) patients were investigated using thin-plate (TP) splines. A relatively new analytic tool, the TP spline method, provides a means of size normalization and image analysis. When shape is one's main concern, various sizes of a biologic structure may be a source of statistical noise. More seriously, the strong size effect could mask underlying, actual attributes of the disease. A set of size normalized data in the form of coordinates was generated from cephalograms of 80 male subjects. The TP spline method envisioned the differences in the shape of the face and tongue between OSA patients and nonapneic subjects and those between the upright and supine body positions. In accordance with OSA severity, the hyoid bone and the submental region positioned inferiorly and the fourth vertebra relocated posteriorly with respect to the mandible. This caused a fanlike configuration of the lower part of the face and neck in the sagittal plane in both upright and supine body positions. TP splines revealed tongue deformations caused by a body position change. Overall, the new morphometric tool adopted here was found to be viable in the analysis of morphologic changes.

  18. High-power and highly reliable 638-nm band BA-LD for CW operation

    Science.gov (United States)

    Nishida, Takehiro; Kuramoto, Kyosuke; Abe, Shinji; Kusunoki, Masatsugu; Miyashita, Motoharu; Yagi, Tetsuya

    2018-02-01

    High-power laser diodes (LDs) are strongly demanded as light sources of display applications. In multiple spatial light modulator-type projectors or liquid crystal displays, the light source LDs are operated under CW condition. The high-power 638-nm band broad-area LD for CW operation was newly developed. The LD consisted of two stripes with each width of 75 μm to reduce both an optical power density at a front facet and a threshold current. The newly improved epitaxial technology was also applied to the LD to suppress an electron overflow from an active layer. The LD showed superior output characteristics, such as output of 1.77 W at case temperature of 55 °C with wall plug efficiency (WPE) of 23%, which was improved by 40% compared with the current product. The peak WPE at 25 °C reached 40.6% under the output power of 2.37 W, CW, world highest.

  19. Efectivity of Additive Spline for Partial Least Square Method in Regression Model Estimation

    Directory of Open Access Journals (Sweden)

    Ahmad Bilfarsah

    2005-04-01

    Full Text Available Additive Spline of Partial Least Square method (ASPL as one generalization of Partial Least Square (PLS method. ASPLS method can be acommodation to non linear and multicollinearity case of predictor variables. As a principle, The ASPLS method approach is cahracterized by two idea. The first is to used parametric transformations of predictors by spline function; the second is to make ASPLS components mutually uncorrelated, to preserve properties of the linear PLS components. The performance of ASPLS compared with other PLS method is illustrated with the fisher economic application especially the tuna fish production.

  20. A linked GeoData map for enabling information access

    Science.gov (United States)

    Powell, Logan J.; Varanka, Dalia E.

    2018-01-10

    attributed Resource Description Framework (RDF) serializations of linked data for mapping. The proof-of-concept focuses on accessing triple data from visual elements of a geographic map as the interface to the MKB. The map interface is embedded with other essential functions such as SPARQL Protocol and RDF Query Language (SPARQL) data query endpoint services and reasoning capabilities of Apache Marmotta (Apache Software Foundation, 2017). An RDF database of the Geographic Names Information System (GNIS), which contains official names of domestic feature in the United States, was linked to a county data layer from The National Map of the U.S. Geological Survey. The county data are part of a broader Government Units theme offered to the public as Esri shapefiles. The shapefile used to draw the map itself was converted to a geographic-oriented JavaScript Object Notation (JSON) (GeoJSON) format and linked through various properties with a linked geodata version of the GNIS database called “GNIS–LD” (Butler and others, 2016; B. Regalia and others, University of California-Santa Barbara, written commun., 2017). The GNIS–LD files originated in Terse RDF Triple Language (Turtle) format but were converted to a JSON format specialized in linked data, “JSON–LD” (Beckett and Berners-Lee, 2011; Sorny and others, 2014). The GNIS–LD database is composed of roughly three predominant triple data graphs: Features, Names, and History. The graphs include a set of namespace prefixes used by each of the attributes. Predefining the prefixes made the conversion to the JSON–LD format simple to complete because Turtle and JSON–LD are variant specifications of the basic RDF concept.To convert a shapefile into GeoJSON format to capture the geospatial coordinate geometry objects, an online converter, Mapshaper, was used (Bloch, 2013). To convert the Turtle files, a custom converter written in Java reconstructs the files by parsing each grouping of attributes belonging to one subject

  1. Assessing accuracy of genotype imputation in American Indians.

    Directory of Open Access Journals (Sweden)

    Alka Malhotra

    Full Text Available Genotype imputation is commonly used in genetic association studies to test untyped variants using information on linkage disequilibrium (LD with typed markers. Imputing genotypes requires a suitable reference population in which the LD pattern is known, most often one selected from HapMap. However, some populations, such as American Indians, are not represented in HapMap. In the present study, we assessed accuracy of imputation using HapMap reference populations in a genome-wide association study in Pima Indians.Data from six randomly selected chromosomes were used. Genotypes in the study population were masked (either 1% or 20% of SNPs available for a given chromosome. The masked genotypes were then imputed using the software Markov Chain Haplotyping Algorithm. Using four HapMap reference populations, average genotype error rates ranged from 7.86% for Mexican Americans to 22.30% for Yoruba. In contrast, use of the original Pima Indian data as a reference resulted in an average error rate of 1.73%.Our results suggest that the use of HapMap reference populations results in substantial inaccuracy in the imputation of genotypes in American Indians. A possible solution would be to densely genotype or sequence a reference American Indian population.

  2. Data assimilation using Bayesian filters and B-spline geological models

    KAUST Repository

    Duan, Lian

    2011-04-01

    This paper proposes a new approach to problems of data assimilation, also known as history matching, of oilfield production data by adjustment of the location and sharpness of patterns of geological facies. Traditionally, this problem has been addressed using gradient based approaches with a level set parameterization of the geology. Gradient-based methods are robust, but computationally demanding with real-world reservoir problems and insufficient for reservoir management uncertainty assessment. Recently, the ensemble filter approach has been used to tackle this problem because of its high efficiency from the standpoint of implementation, computational cost, and performance. Incorporation of level set parameterization in this approach could further deal with the lack of differentiability with respect to facies type, but its practical implementation is based on some assumptions that are not easily satisfied in real problems. In this work, we propose to describe the geometry of the permeability field using B-spline curves. This transforms history matching of the discrete facies type to the estimation of continuous B-spline control points. As filtering scheme, we use the ensemble square-root filter (EnSRF). The efficacy of the EnSRF with the B-spline parameterization is investigated through three numerical experiments, in which the reservoir contains a curved channel, a disconnected channel or a 2-dimensional closed feature. It is found that the application of the proposed method to the problem of adjusting facies edges to match production data is relatively straightforward and provides statistical estimates of the distribution of geological facies and of the state of the reservoir.

  3. Data assimilation using Bayesian filters and B-spline geological models

    International Nuclear Information System (INIS)

    Duan Lian; Farmer, Chris; Hoteit, Ibrahim; Luo Xiaodong; Moroz, Irene

    2011-01-01

    This paper proposes a new approach to problems of data assimilation, also known as history matching, of oilfield production data by adjustment of the location and sharpness of patterns of geological facies. Traditionally, this problem has been addressed using gradient based approaches with a level set parameterization of the geology. Gradient-based methods are robust, but computationally demanding with real-world reservoir problems and insufficient for reservoir management uncertainty assessment. Recently, the ensemble filter approach has been used to tackle this problem because of its high efficiency from the standpoint of implementation, computational cost, and performance. Incorporation of level set parameterization in this approach could further deal with the lack of differentiability with respect to facies type, but its practical implementation is based on some assumptions that are not easily satisfied in real problems. In this work, we propose to describe the geometry of the permeability field using B-spline curves. This transforms history matching of the discrete facies type to the estimation of continuous B-spline control points. As filtering scheme, we use the ensemble square-root filter (EnSRF). The efficacy of the EnSRF with the B-spline parameterization is investigated through three numerical experiments, in which the reservoir contains a curved channel, a disconnected channel or a 2-dimensional closed feature. It is found that the application of the proposed method to the problem of adjusting facies edges to match production data is relatively straightforward and provides statistical estimates of the distribution of geological facies and of the state of the reservoir.

  4. Proteome-level assessment of origin, prevalence and function of Leucine-Aspartic Acid (LD) motifs

    KAUST Repository

    Alam, Tanvir; Alazmi, Meshari; Naser, Rayan Mohammad Mahmoud; Huser, Franceline; Momin, Afaque Ahmad Imtiyaz; Walkiewicz, Katarzyna Wiktoria; Canlas, Christian; Huser, Raphaë l; Ali, Amal J.; Merzaban, Jasmeen; Bajic, Vladimir B.; Gao, Xin; Arold, Stefan T.

    2018-01-01

    and migration, and revealed a new type of inverse LD motif consensus. Our evolutionary analysis suggested that LD motif signalling originated in the common unicellular ancestor of opisthokonts and amoebozoa by co-opting nuclear export sequences. Inter

  5. ld i nära relationer : En diskursanalys kring framställningar om våld i nära relationer i tidskriften Socionomen

    OpenAIRE

    Alakokkare, Marlene; Andreasson, Cecilia

    2014-01-01

    Syftet med denna kvalitativa uppsats är att undersöka hur våld i nära relationer framställs i tidskriften Socionomen. Vår empiri består av 42 artiklar som berör våld i nära relationer. Artiklarna är publicerade mellan åren 1997 - 2013 i tidskriften Socionomen. Uppsatsens teoretiska utgångspunkt är ett socialkonstruktionistiskt perspektiv, som bidrar med att synliggöra sociala konstruktioner inom forskningsområdet. Som analysmetod används en form av diskursanalys för att urskilja subjektsposit...

  6. PEMODELAN REGRESI SPLINE (Studi Kasus: Herpindo Jaya Cabang Ngaliyan

    Directory of Open Access Journals (Sweden)

    I MADE BUDIANTARA PUTRA

    2015-06-01

    Full Text Available Regression analysis is a method of data analysis to describe the relationship between response variables and predictor variables. There are two approaches to estimating the regression function. They are parametric and nonparametric approaches. The parametric approach is used when the relationship between the predictor variables and the response variables are known or the shape of the regression curve is known. Meanwhile, the nonparametric approach is used when the form of the relationship between the response and predictor variables is unknown or no information about the form of the regression function. The aim of this study are to determine the best spline nonparametric regression model on data of quality of the product, price, and advertising on purchasing decisions of Yamaha motorcycle with optimal knots point and to compare it with the multiple regression linear based on the coefficient of determination (R2 and mean square error (MSE. Optimal knot points are defined by two point knots. The result of this analysis is that for this data multiple regression linear is better than the spline regression one.

  7. SNP-VISTA: An Interactive SNPs Visualization Tool

    Energy Technology Data Exchange (ETDEWEB)

    Shah, Nameeta; Teplitsky, Michael V.; Pennacchio, Len A.; Hugenholtz, Philip; Hamann, Bernd; Dubchak, Inna L.

    2005-07-05

    Recent advances in sequencing technologies promise better diagnostics for many diseases as well as better understanding of evolution of microbial populations. Single Nucleotide Polymorphisms(SNPs) are established genetic markers that aid in the identification of loci affecting quantitative traits and/or disease in a wide variety of eukaryotic species. With today's technological capabilities, it is possible to re-sequence a large set of appropriate candidate genes in individuals with a given disease and then screen for causative mutations.In addition, SNPs have been used extensively in efforts to study the evolution of microbial populations, and the recent application of random shotgun sequencing to environmental samples makes possible more extensive SNP analysis of co-occurring and co-evolving microbial populations. The program is available at http://genome.lbl.gov/vista/snpvista.

  8. Can Social Stories Enhance the Interpersonal Conflict Resolution Skills of Children with LD?

    Science.gov (United States)

    Kalyva, Efrosini; Agaliotis, Ioannis

    2009-01-01

    Since many children with learning disabilities (LD) face interpersonal conflict resolution problems, this study examines the efficacy of social stories in helping them choose more appropriate interpersonal conflict resolution strategies. A social story was recorded and played to the 31 children with LD in the experimental group twice a week for a…

  9. Dissecting genomic hotspots underlying seed protein, oil, and sucrose content in an interspecific mapping population of soybean using high-density linkage mapping.

    Science.gov (United States)

    Patil, Gunvant; Vuong, Tri D; Kale, Sandip; Valliyodan, Babu; Deshmukh, Rupesh; Zhu, Chengsong; Wu, Xiaolei; Bai, Yonghe; Yungbluth, Dennis; Lu, Fang; Kumpatla, Siva; Grover Shannon, J; Varshney, Rajeev K; Nguyen, Henry T

    2018-04-04

    The cultivated [Glycine max (L) Merr.] and wild [Glycine soja Siebold & Zucc.] soybean species comprise wide variation in seed composition traits. Compared to wild soybean, cultivated soybean contains low protein, high oil and high sucrose. In this study, an inter-specific population was derived from a cross between G. max (Williams 82) and G. soja (PI 483460B). This recombinant inbred line (RIL) population of 188 lines was sequenced at 0.3x depth. Based on 91,342 single nucleotide polymorphisms (SNPs), recombination events in RILs were defined, and a high-resolution bin map was developed (4,070 bins). In addition to bin mapping, QTL analysis for protein, oil and sucrose was performed using 3,343 polymorphic SNPs (3K-SNP), derived from Illumina Infinium BeadChip sequencing platform. The QTL regions from both platforms were compared and a significant concordance was observed between bin and 3K-SNP markers. Importantly, the bin map derived from next generation sequencing technology enhanced mapping resolution (from 1325 Kb to 50 Kb). A total of 5, 9 and 4 QTLs were identified for protein, oil and sucrose content, respectively and some of the QTLs coincided with soybean domestication related genomic loci. The major QTL for protein and oil was mapped on Chr. 20 (qPro_20) and suggested negative correlation between oil and protein. In terms of sucrose content, a novel and major QTL was identified on Chr. 8 (qSuc_08) and harbors putative genes involved in sugar transport. In addition, genome-wide association (GWAS) using 91,342 SNPs confirmed the genomic loci derived from QTL mapping. A QTL based haplotype using whole genome resequencing of 106 diverse soybean lines identified unique allelic variation in wild soybean that could be utilized to widen the genetic base in cultivated soybean. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  10. Transitive Credit and JSON-LD

    Directory of Open Access Journals (Sweden)

    Daniel S. Katz

    2015-11-01

    Full Text Available Science and engineering research increasingly relies on activities that facilitate research but are not currently rewarded or recognized, such as: data sharing; developing common data resources, software and methodologies; and annotating data and publications. To promote and advance these activities, we must develop mechanisms for assigning credit, facilitate the appropriate attribution of research outcomes, devise incentives for activities that facilitate research, and allocate funds to maximize return on investment. In this article, we focus on addressing the issue of assigning credit for both direct and indirect contributions, specifically by using JSON-LD to implement a prototype transitive credit system.

  11. Counterexamples to the B-spline Conjecture for Gabor Frames

    DEFF Research Database (Denmark)

    Lemvig, Jakob; Nielsen, Kamilla Haahr

    2016-01-01

    The frame set conjecture for B-splines Bn, n≥2, states that the frame set is the maximal set that avoids the known obstructions. We show that any hyperbola of the form ab=r, where r is a rational number smaller than one and a and b denote the sampling and modulation rates, respectively, has infin...

  12. Analysis of the genetic structure of the Malay population: Ancestry-informative marker SNPs in the Malay of Peninsular Malaysia.

    Science.gov (United States)

    Yahya, Padillah; Sulong, Sarina; Harun, Azian; Wan Isa, Hatin; Ab Rajab, Nur-Shafawati; Wangkumhang, Pongsakorn; Wilantho, Alisa; Ngamphiw, Chumpol; Tongsima, Sissades; Zilfalil, Bin Alwi

    2017-09-01

    Malay, the main ethnic group in Peninsular Malaysia, is represented by various sub-ethnic groups such as Melayu Banjar, Melayu Bugis, Melayu Champa, Melayu Java, Melayu Kedah Melayu Kelantan, Melayu Minang and Melayu Patani. Using data retrieved from the MyHVP (Malaysian Human Variome Project) database, a total of 135 individuals from these sub-ethnic groups were profiled using the Affymetrix GeneChip Mapping Xba 50-K single nucleotide polymorphism (SNP) array to identify SNPs that were ancestry-informative markers (AIMs) for Malays of Peninsular Malaysia. Prior to selecting the AIMs, the genetic structure of Malays was explored with reference to 11 other populations obtained from the Pan-Asian SNP Consortium database using principal component analysis (PCA) and ADMIXTURE. Iterative pruning principal component analysis (ipPCA) was further used to identify sub-groups of Malays. Subsequently, we constructed an AIMs panel for Malays using the informativeness for assignment (I n ) of genetic markers, and the K-nearest neighbor classifier (KNN) was used to teach the classification models. A model of 250 SNPs ranked by I n , correctly classified Malay individuals with an accuracy of up to 90%. The identified panel of SNPs could be utilized as a panel of AIMs to ascertain the specific ancestry of Malays, which may be useful in disease association studies, biomedical research or forensic investigation purposes. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Introducing Algebra through the Graphical Representation of Functions: A Study among LD Students

    Science.gov (United States)

    Sauriol, Jennifer

    2013-01-01

    This longitudinal study evaluates the impact of a new Algebra 1 course at a High School for language-based learning-disabled (LD) students. The new course prioritized the teaching of relationship graphs and functions as an introduction to algebra. Across three studies, the dissertation documents and evaluates the progress made by LD high school…

  14. Fingerprint Matching by Thin-plate Spline Modelling of Elastic Deformations

    NARCIS (Netherlands)

    Bazen, A.M.; Gerez, Sabih H.

    2003-01-01

    This paper presents a novel minutiae matching method that describes elastic distortions in fingerprints by means of a thin-plate spline model, which is estimated using a local and a global matching stage. After registration of the fingerprints according to the estimated model, the number of matching

  15. Motion characteristic between die and workpiece in spline rolling process with round dies

    Directory of Open Access Journals (Sweden)

    Da-Wei Zhang

    2016-06-01

    Full Text Available In the spline rolling process with round dies, additional kinematic compensation is an essential mechanism for improving the division of teeth and pitch accuracy as well as surface quality. The motion characteristic between the die and workpiece under varied center distance in the spline rolling process was investigated. Mathematical models of the instantaneous center of rotation, transmission ratio, and centrodes in the rolling process were established. The models were used to analyze the rolling process of the involute spline with circular dedendum, and the results indicated that (1 with the reduction in the center distance, the instantaneous center moves toward workpiece, and the transmission ratio increases at first and then decreases; (2 the variations in the instantaneous center and transmission ratio are discontinuous, presenting an interruption when the involute flank begins to be formed; (3 the change in transmission ratio at the forming stage of the workpiece with the involute flank can be negligible; and (4 the centrode of the workpiece is an Archimedes line whose polar radius reduces, and the centrode of the rolling die is similar to Archimedes line when the workpiece is with the involute flank.

  16. Automatic lung lobe segmentation using particles, thin plate splines, and maximum a posteriori estimation.

    Science.gov (United States)

    Ross, James C; San José Estépar, Rail; Kindlmann, Gordon; Díaz, Alejandro; Westin, Carl-Fredrik; Silverman, Edwin K; Washko, George R

    2010-01-01

    We present a fully automatic lung lobe segmentation algorithm that is effective in high resolution computed tomography (CT) datasets in the presence of confounding factors such as incomplete fissures (anatomical structures indicating lobe boundaries), advanced disease states, high body mass index (BMI), and low-dose scanning protocols. In contrast to other algorithms that leverage segmentations of auxiliary structures (esp. vessels and airways), we rely only upon image features indicating fissure locations. We employ a particle system that samples the image domain and provides a set of candidate fissure locations. We follow this stage with maximum a posteriori (MAP) estimation to eliminate poor candidates and then perform a post-processing operation to remove remaining noise particles. We then fit a thin plate spline (TPS) interpolating surface to the fissure particles to form the final lung lobe segmentation. Results indicate that our algorithm performs comparably to pulmonologist-generated lung lobe segmentations on a set of challenging cases.

  17. A novel gridding algorithm to create regional trace gas maps from satellite observations

    Science.gov (United States)

    Kuhlmann, G.; Hartl, A.; Cheung, H. M.; Lam, Y. F.; Wenig, M. O.

    2014-02-01

    The recent increase in spatial resolution for satellite instruments has made it feasible to study distributions of trace gas column densities on a regional scale. For this application a new gridding algorithm was developed to map measurements from the instrument's frame of reference (level 2) onto a longitude-latitude grid (level 3). The algorithm is designed for the Ozone Monitoring Instrument (OMI) and can easily be employed for similar instruments - for example, the upcoming TROPOspheric Monitoring Instrument (TROPOMI). Trace gas distributions are reconstructed by a continuous parabolic spline surface. The algorithm explicitly considers the spatially varying sensitivity of the sensor resulting from the instrument function. At the swath edge, the inverse problem of computing the spline coefficients is very sensitive to measurement errors and is regularised by a second-order difference matrix. Since this regularisation corresponds to the penalty term for smoothing splines, it similarly attenuates the effect of measurement noise over the entire swath width. Monte Carlo simulations are conducted to study the performance of the algorithm for different distributions of trace gas column densities. The optimal weight of the penalty term is found to be proportional to the measurement uncertainty and the width of the instrument function. A comparison with an established gridding algorithm shows improved performance for small to moderate measurement errors due to better parametrisation of the distribution. The resulting maps are smoother and extreme values are more accurately reconstructed. The performance improvement is further illustrated with high-resolution distributions obtained from a regional chemistry model. The new algorithm is applied to tropospheric NO2 column densities measured by OMI. Examples of regional NO2 maps are shown for densely populated areas in China, Europe and the United States of America. This work demonstrates that the newly developed gridding

  18. A novel gridding algorithm to create regional trace gas maps from satellite observations

    Directory of Open Access Journals (Sweden)

    G. Kuhlmann

    2014-02-01

    Full Text Available The recent increase in spatial resolution for satellite instruments has made it feasible to study distributions of trace gas column densities on a regional scale. For this application a new gridding algorithm was developed to map measurements from the instrument's frame of reference (level 2 onto a longitude–latitude grid (level 3. The algorithm is designed for the Ozone Monitoring Instrument (OMI and can easily be employed for similar instruments – for example, the upcoming TROPOspheric Monitoring Instrument (TROPOMI. Trace gas distributions are reconstructed by a continuous parabolic spline surface. The algorithm explicitly considers the spatially varying sensitivity of the sensor resulting from the instrument function. At the swath edge, the inverse problem of computing the spline coefficients is very sensitive to measurement errors and is regularised by a second-order difference matrix. Since this regularisation corresponds to the penalty term for smoothing splines, it similarly attenuates the effect of measurement noise over the entire swath width. Monte Carlo simulations are conducted to study the performance of the algorithm for different distributions of trace gas column densities. The optimal weight of the penalty term is found to be proportional to the measurement uncertainty and the width of the instrument function. A comparison with an established gridding algorithm shows improved performance for small to moderate measurement errors due to better parametrisation of the distribution. The resulting maps are smoother and extreme values are more accurately reconstructed. The performance improvement is further illustrated with high-resolution distributions obtained from a regional chemistry model. The new algorithm is applied to tropospheric NO2 column densities measured by OMI. Examples of regional NO2 maps are shown for densely populated areas in China, Europe and the United States of America. This work demonstrates that the newly

  19. Cheap streak camera based on the LD-S-10 intensifier tube

    Science.gov (United States)

    Dashevsky, Boris E.; Krutik, Mikhail I.; Surovegin, Alexander L.

    1992-01-01

    Basic properties of a new streak camera and its test results are reported. To intensify images on its screen, we employed modular G1 tubes, the LD-A-1.0 and LD-A-0.33, enabling magnification of 1.0 and 0.33, respectively. If necessary, the LD-A-0.33 tube may be substituted by any other image intensifier of the LDA series, the choice to be determined by the size of the CCD matrix with fiber-optical windows. The reported camera employs a 12.5- mm-long CCD strip consisting of 1024 pixels, each 12 X 500 micrometers in size. Registered radiation was imaged on a 5 X 0.04 mm slit diaphragm tightly connected with the LD-S- 10 fiber-optical input window. Electrons escaping the cathode are accelerated in a 5 kV electric field and focused onto a phosphor screen covering a fiber-optical plate as they travel between deflection plates. Sensitivity of the latter was 18 V/mm, which implies that the total deflecting voltage was 720 V per 40 mm of the screen surface, since reversed-polarity scan pulses +360 V and -360 V were applied across the deflection plate. The streak camera provides full scan times over the screen of 15, 30, 50, 100, 250, and 500 ns. Timing of the electrically or optically driven camera was done using a 10 ns step-controlled-delay (0 - 500 ns) circuit.

  20. A novel method for in silico identification of regulatory SNPs in human genome.

    Science.gov (United States)

    Li, Rong; Zhong, Dexing; Liu, Ruiling; Lv, Hongqiang; Zhang, Xinman; Liu, Jun; Han, Jiuqiang

    2017-02-21

    Regulatory single nucleotide polymorphisms (rSNPs), kind of functional noncoding genetic variants, can affect gene expression in a regulatory way, and they are thought to be associated with increased susceptibilities to complex diseases. Here a novel computational approach to identify potential rSNPs is presented. Different from most other rSNPs finding methods which based on hypothesis that SNPs causing large allele-specific changes in transcription factor binding affinities are more likely to play regulatory functions, we use a set of documented experimentally verified rSNPs and nonfunctional background SNPs to train classifiers, so the discriminating features are found. To characterize variants, an extensive range of characteristics, such as sequence context, DNA structure and evolutionary conservation etc. are analyzed. Support vector machine is adopted to build the classifier model together with an ensemble method to deal with unbalanced data. 10-fold cross-validation result shows that our method can achieve accuracy with sensitivity of ~78% and specificity of ~82%. Furthermore, our method performances better than some other algorithms based on aforementioned hypothesis in handling false positives. The original data and the source matlab codes involved are available at https://sourceforge.net/projects/rsnppredict/. Copyright © 2016 Elsevier Ltd. All rights reserved.

  1. Curvelet-domain multiple matching method combined with cubic B-spline function

    Science.gov (United States)

    Wang, Tong; Wang, Deli; Tian, Mi; Hu, Bin; Liu, Chengming

    2018-05-01

    Since the large amount of surface-related multiple existed in the marine data would influence the results of data processing and interpretation seriously, many researchers had attempted to develop effective methods to remove them. The most successful surface-related multiple elimination method was proposed based on data-driven theory. However, the elimination effect was unsatisfactory due to the existence of amplitude and phase errors. Although the subsequent curvelet-domain multiple-primary separation method achieved better results, poor computational efficiency prevented its application. In this paper, we adopt the cubic B-spline function to improve the traditional curvelet multiple matching method. First, select a little number of unknowns as the basis points of the matching coefficient; second, apply the cubic B-spline function on these basis points to reconstruct the matching array; third, build constraint solving equation based on the relationships of predicted multiple, matching coefficients, and actual data; finally, use the BFGS algorithm to iterate and realize the fast-solving sparse constraint of multiple matching algorithm. Moreover, the soft-threshold method is used to make the method perform better. With the cubic B-spline function, the differences between predicted multiple and original data diminish, which results in less processing time to obtain optimal solutions and fewer iterative loops in the solving procedure based on the L1 norm constraint. The applications to synthetic and field-derived data both validate the practicability and validity of the method.

  2. Report on the changes of LD50 of Bee venom Herbal Acupuncture

    Directory of Open Access Journals (Sweden)

    Ki Rok Kwon

    2005-02-01

    Full Text Available Objectives : This experiment was conducted to reevaluate LD50 of Korean bee venom acupuncture as many changes have occurred over the years. Methods : ICR mice were used as the experiment animals and bee venom acupuncture was manufactured under the protocols of Korean Institute of herbal Acupuncture. Based on the previous reports, experiment was divided into pre and main sections. Results : 1. Presumed LD50 value is at 5.25mg/kg. 2. Deaths of experiment animals occurred within 48 hours. 3. Reduced toxicity of the bee venom acupuncture is likely to be the results of more refined manufacturing process and production. Conclusion : Comparing with the values of the previous results, toxicity of the bee venom acupuncture showed significant changes and more accurate findings on LD50 value must be accomplished to lead further studies on the bee venom acupuncture.

  3. Novel SNPs in the exon region of bovine DKK4 gene and their association with body measurement traits in Qinchuan cattle.

    Science.gov (United States)

    Gao, J B; Li, Y K; Yang, N; Ma, X H; Adoligbe, C; Jiang, B J; Fu, C Z; Cheng, G; Zan, L S

    2013-02-28

    The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of bovine Dickkopf homolog 4 (DKK4) are associated with body measurement traits in Qinchuan cattle. By using PCR-SSCP technology and DNA sequencing, we discovered 5 DKK4 SNPs in Qingchuan cattle, including -65G>A and -77G>T in the 5'-untranslated region, 1532C>G and 1533T>C in exon 2, and 2088C>T in exon 3. The sequencing map showed that 1532C>G and 1533T>C were in close linkage disequilibrium and were treated as 1532C>G-1533T>C in this study. Allele frequencies were calculated and analyzed by the chi-square test, which showed that -65G>A and 1532C>G-1533T>C were in Hardy-Weinberg equilibrium (P > 0.05), whereas -77G>T and 2088C>T were not in all 633 tested Qinchuan cattle individuals (P A; 0.472, 1.894, and 0.361 at -77G>T; 0.476, 1.908, and 0.363 at 1532C>G-1533T>C; and 0.218, 1.279, and 0.195 at 2088C>T. We also evaluated the potential association of these SNPs with body measurement traits in all 633 individuals; the results suggest that several SNPs in Qinchuan cattle DKK4 were significantly associated with body length, hip height, rump length, hip width, heart girth, and pin bone width (P bovine DKK4 could be used as candidate gene for Qinchuan cattle breeding.

  4. Genome-wide association data classification and SNPs selection using two-stage quality-based Random Forests.

    Science.gov (United States)

    Nguyen, Thanh-Tung; Huang, Joshua; Wu, Qingyao; Nguyen, Thuy; Li, Mark

    2015-01-01

    Single-nucleotide polymorphisms (SNPs) selection and identification are the most important tasks in Genome-wide association data analysis. The problem is difficult because genome-wide association data is very high dimensional and a large portion of SNPs in the data is irrelevant to the disease. Advanced machine learning methods have been successfully used in Genome-wide association studies (GWAS) for identification of genetic variants that have relatively big effects in some common, complex diseases. Among them, the most successful one is Random Forests (RF). Despite of performing well in terms of prediction accuracy in some data sets with moderate size, RF still suffers from working in GWAS for selecting informative SNPs and building accurate prediction models. In this paper, we propose to use a new two-stage quality-based sampling method in random forests, named ts-RF, for SNP subspace selection for GWAS. The method first applies p-value assessment to find a cut-off point that separates informative and irrelevant SNPs in two groups. The informative SNPs group is further divided into two sub-groups: highly informative and weak informative SNPs. When sampling the SNP subspace for building trees for the forest, only those SNPs from the two sub-groups are taken into account. The feature subspaces always contain highly informative SNPs when used to split a node at a tree. This approach enables one to generate more accurate trees with a lower prediction error, meanwhile possibly avoiding overfitting. It allows one to detect interactions of multiple SNPs with the diseases, and to reduce the dimensionality and the amount of Genome-wide association data needed for learning the RF model. Extensive experiments on two genome-wide SNP data sets (Parkinson case-control data comprised of 408,803 SNPs and Alzheimer case-control data comprised of 380,157 SNPs) and 10 gene data sets have demonstrated that the proposed model significantly reduced prediction errors and outperformed

  5. Vibration Analysis of Rectangular Plates with One or More Guided Edges via Bicubic B-Spline Method

    Directory of Open Access Journals (Sweden)

    W.J. Si

    2005-01-01

    Full Text Available A simple and accurate method is proposed for the vibration analysis of rectangular plates with one or more guided edges, in which bicubic B-spline interpolation in combination with a new type of basis cubic B-spline functions is used to approximate the plate deflection. This type of basis cubic B-spline functions can satisfy simply supported, clamped, free, and guided edge conditions with easy numerical manipulation. The frequency characteristic equation is formulated based on classical thin plate theory by performing Hamilton's principle. The present solutions are verified with the analytical ones. Fast convergence, high accuracy and computational efficiency have been demonstrated from the comparisons. Frequency parameters for 13 cases of rectangular plates with at least one guided edge, which are possible by approximate or numerical methods only, are presented. These results are new in literature.

  6. Mandibular transformations in prepubertal patients following treatment for craniofacial microsomia: thin-plate spline analysis.

    Science.gov (United States)

    Hay, A D; Singh, G D

    2000-01-01

    To analyze correction of mandibular deformity using an inverted L osteotomy and autogenous bone graft in patients exhibiting unilateral craniofacial microsomia (CFM), thin-plate spline analysis was undertaken. Preoperative, early postoperative, and approximately 3.5-year postoperative posteroanterior cephalographs of 15 children (age 10+/-3 years) with CFM were scanned, and eight homologous mandibular landmarks digitized. Average mandibular geometries, scaled to an equivalent size, were generated using Procrustes superimposition. Results indicated that the mean pre- and postoperative mandibular configurations differed statistically (PThin-plate spline analysis indicated that the total spline (Cartesian transformation grid) of the pre- to early postoperative configuration showed mandibular body elongation on the treated side and inferior symphyseal displacement. The affine component of the total spline revealed a clockwise rotation of the preoperative configuration, whereas the nonaffine component was responsible for ramus, body, and symphyseal displacements. The transformation grid for the early and late postoperative comparison showed bilateral ramus elongation. A superior symphyseal displacement contrasted with its earlier inferior displacement, the affine component had translocated the symphyseal landmarks towards the midline. The nonaffine component demonstrated bilateral ramus lengthening, and partial warps suggested that these elongations were slightly greater on the nontreated side. The affine component of the pre- and late postoperative comparison also demonstrated a clockwise rotation. The nonaffine component produced the bilateral ramus elongations-the nontreated side ramus lengthening slightly more than the treated side. It is concluded that an inverted L osteotomy improves mandibular morphology significantly in CFM patients and permits continued bilateral ramus growth. Copyright 2000 Wiley-Liss, Inc.

  7. Local Adaptive Calibration of the GLASS Surface Incident Shortwave Radiation Product Using Smoothing Spline

    Science.gov (United States)

    Zhang, X.; Liang, S.; Wang, G.

    2015-12-01

    Incident solar radiation (ISR) over the Earth's surface plays an important role in determining the Earth's climate and environment. Generally, can be obtained from direct measurements, remotely sensed data, or reanalysis and general circulation models (GCMs) data. Each type of product has advantages and limitations: the surface direct measurements provide accurate but sparse spatial coverage, whereas other global products may have large uncertainties. Ground measurements have been normally used for validation and occasionally calibration, but transforming their "true values" spatially to improve the satellite products is still a new and challenging topic. In this study, an improved thin-plate smoothing spline approach is presented to locally "calibrate" the Global LAnd Surface Satellite (GLASS) ISR product using the reconstructed ISR data from surface meteorological measurements. The influences of surface elevation on ISR estimation was also considered in the proposed method. The point-based surface reconstructed ISR was used as the response variable, and the GLASS ISR product and the surface elevation data at the corresponding locations as explanatory variables to train the thin plate spline model. We evaluated the performance of the approach using the cross-validation method at both daily and monthly time scales over China. We also evaluated estimated ISR based on the thin-plate spline method using independent ground measurements at 10 sites from the Coordinated Enhanced Observation Network (CEON). These validation results indicated that the thin plate smoothing spline method can be effectively used for calibrating satellite derived ISR products using ground measurements to achieve better accuracy.

  8. Linear spline multilevel models for summarising childhood growth trajectories: A guide to their application using examples from five birth cohorts.

    Science.gov (United States)

    Howe, Laura D; Tilling, Kate; Matijasevich, Alicia; Petherick, Emily S; Santos, Ana Cristina; Fairley, Lesley; Wright, John; Santos, Iná S; Barros, Aluísio Jd; Martin, Richard M; Kramer, Michael S; Bogdanovich, Natalia; Matush, Lidia; Barros, Henrique; Lawlor, Debbie A

    2016-10-01

    Childhood growth is of interest in medical research concerned with determinants and consequences of variation from healthy growth and development. Linear spline multilevel modelling is a useful approach for deriving individual summary measures of growth, which overcomes several data issues (co-linearity of repeat measures, the requirement for all individuals to be measured at the same ages and bias due to missing data). Here, we outline the application of this methodology to model individual trajectories of length/height and weight, drawing on examples from five cohorts from different generations and different geographical regions with varying levels of economic development. We describe the unique features of the data within each cohort that have implications for the application of linear spline multilevel models, for example, differences in the density and inter-individual variation in measurement occasions, and multiple sources of measurement with varying measurement error. After providing example Stata syntax and a suggested workflow for the implementation of linear spline multilevel models, we conclude with a discussion of the advantages and disadvantages of the linear spline approach compared with other growth modelling methods such as fractional polynomials, more complex spline functions and other non-linear models. © The Author(s) 2013.

  9. V-MitoSNP: visualization of human mitochondrial SNPs

    Directory of Open Access Journals (Sweden)

    Tsui Ke-Hung

    2006-08-01

    Full Text Available Abstract Background Mitochondrial single nucleotide polymorphisms (mtSNPs constitute important data when trying to shed some light on human diseases and cancers. Unfortunately, providing relevant mtSNP genotyping information in mtDNA databases in a neatly organized and transparent visual manner still remains a challenge. Amongst the many methods reported for SNP genotyping, determining the restriction fragment length polymorphisms (RFLPs is still one of the most convenient and cost-saving methods. In this study, we prepared the visualization of the mtDNA genome in a way, which integrates the RFLP genotyping information with mitochondria related cancers and diseases in a user-friendly, intuitive and interactive manner. The inherent problem associated with mtDNA sequences in BLAST of the NCBI database was also solved. Description V-MitoSNP provides complete mtSNP information for four different kinds of inputs: (1 color-coded visual input by selecting genes of interest on the genome graph, (2 keyword search by locus, disease and mtSNP rs# ID, (3 visualized input of nucleotide range by clicking the selected region of the mtDNA sequence, and (4 sequences mtBLAST. The V-MitoSNP output provides 500 bp (base pairs flanking sequences for each SNP coupled with the RFLP enzyme and the corresponding natural or mismatched primer sets. The output format enables users to see the SNP genotype pattern of the RFLP by virtual electrophoresis of each mtSNP. The rate of successful design of enzymes and primers for RFLPs in all mtSNPs was 99.1%. The RFLP information was validated by actual agarose electrophoresis and showed successful results for all mtSNPs tested. The mtBLAST function in V-MitoSNP provides the gene information within the input sequence rather than providing the complete mitochondrial chromosome as in the NCBI BLAST database. All mtSNPs with rs number entries in NCBI are integrated in the corresponding SNP in V-MitoSNP. Conclusion V-MitoSNP is a web

  10. Portability of tag SNPs across isolated population groups: an example from India.

    Science.gov (United States)

    Sarkar Roy, N; Farheen, S; Roy, N; Sengupta, S; Majumder, P P

    2008-01-01

    Isolated population groups are useful in conducting association studies of complex diseases to avoid various pitfalls, including those arising from population stratification. Since DNA resequencing is expensive, it is recommended that genotyping be carried out at tagSNP (tSNP) loci. For this, tSNPs identified in one isolated population need to be used in another. Unless tSNPs are highly portable across populations this strategy may result in loss of information in association studies. We examined the issue of tSNP portability by sampling individuals from 10 isolated ethnic groups from India. We generated DNA resequencing data pertaining to 3 genomic regions and identified tSNPs in each population. We defined an index of tSNP portability and showed that portability is low across isolated Indian ethnic groups. The extent of portability did not significantly correlate with genetic similarity among the populations studied here. We also analyzed our data with sequence data from individuals of African and European descent. Our results indicated that it may be necessary to carry out resequencing in a small number of individuals to discover SNPs and identify tSNPs in the specific isolated population in which a disease association study is to be conducted.

  11. Multilocus Patterns of Nucleotide Diversity, Population Structure and Linkage Disequilibrium in Boechera stricta, a Wild Relative of Arabidopsis

    Science.gov (United States)

    Song, Bao-Hua; Windsor, Aaron J.; Schmid, Karl J.; Ramos-Onsins, Sebastian; Schranz, M. Eric; Heidel, Andrew J.; Mitchell-Olds, Thomas

    2009-01-01

    Information about polymorphism, population structure, and linkage disequilibrium (LD) is crucial for association studies of complex trait variation. However, most genomewide studies have focused on model systems, with very few analyses of undisturbed natural populations. Here, we sequenced 86 mapped nuclear loci for a sample of 46 genotypes of Boechera stricta and two individuals of B. holboellii, both wild relatives of Arabidopsis. Isolation by distance was significant across the species range of B. stricta, and three geographic groups were identified by structure analysis, principal coordinates analysis, and distance-based phylogeny analyses. The allele frequency spectrum indicated a genomewide deviation from an equilibrium neutral model, with silent nucleotide diversity averaging 0.004. LD decayed rapidly, declining to background levels in ∼10 kb or less. For tightly linked SNPs separated by <1 kb, LD was dependent on the reference population. LD was lower in the specieswide sample than within populations, suggesting that low levels of LD found in inbreeding species such as B. stricta, Arabidopsis thaliana, and barley may result from broad geographic sampling that spans heterogeneous genetic groups. Finally, analyses also showed that inbreeding B. stricta and A. thaliana have ∼45% higher recombination per kilobase than outcrossing A. lyrata. PMID:19104077

  12. The Impact Anger Level and Childrearing Styles of Mothers on Self-Concept of Their Children With or Without LD

    Directory of Open Access Journals (Sweden)

    عصمت دانش

    2015-12-01

    Full Text Available The purpose of current research was to examine the impact of anger level of mothers who have children with or without LD on the self-concept of children. The method of the study was comparative and correlational. Statistical population included all mothers of children with LD that were clients of LD centers and the mothers of children without LD recruited from the same location. In total, 82 children were selected in two sample groups ranging 8 -12 years of age with and without LD. Then, questionnaires of The State - Trait Anger Expression Inventory (STAXI-2 and BaumrindChildren’s Self-concept Scale by Ahluwalia (1961 were filled.The data were analyzed by MANOVA and regression method. LD was not found as moderator variable in relation between anger and childrearing. Differences found between mother's children with and without LD in feeling angry, angry reaction, expression-out, anger expression - in, anger control - out, anger control - in, anger impact of behavior self-concept, educational self-concept and happy. There was a difference between children with and without LD in self-concept as well. Family as the most important agency that shapes child' past demand more basic research on childrearing styles of children with LD. It is essential to expand our research based knowledge about them. This study suggests differences between parenting styles of mothers with or without LD children that may have clinical implications for professionals involved in treatment of these children and their mothers.

  13. Targeted Metabolic Engineering Guided by Computational Analysis of Single-Nucleotide Polymorphisms (SNPs)

    DEFF Research Database (Denmark)

    Udatha, D B R K Gupta; Rasmussen, Simon; Sicheritz-Pontén, Thomas

    2013-01-01

    The non-synonymous SNPs, the so-called non-silent SNPs, which are single-nucleotide variations in the coding regions that give "birth" to amino acid mutations, are often involved in the modulation of protein function. Understanding the effect of individual amino acid mutations on a protein...

  14. Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese.

    Directory of Open Access Journals (Sweden)

    Lai Fun Thean

    Full Text Available Genome-wide association studies (GWAS in Caucasians have identified fourteen index single nucleotide polymorphisms (iSNPs that influence colorectal cancer (CRC risk.We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs, in high linkage disequilibrium (LD, r(2≥ 0.8 and within 100 kb vicinity of iSNPs, in 2,000 age- and gender-matched Singapore Chinese (SCH cases and controls.Only iSNP rs6983267 at 8q24.21 and sSNPs rs6695584, rs11986063, rs3087967, rs2059254, and rs7226855 at 1q41, 8q23.3, 11q23.1, 16q22.1 and 18q21.1 respectively showed evidence of association with CRC risk, with odds ratios (OR ranging from 1.13 to 1.40. sSNP rs827401 at 10p14 was associated with rectal cancer risk (OR = 0.74, 95% CI 0.63-0.88 but not disease prognosis (OR = 0.91, 95% CI 0.69-1.20. Interestingly, sSNP rs3087967 at 11q23.1 was associated with CRC risk in men (OR = 1.34, 95% CI 1.14-1.58 but not women (OR = 1.07, 95% CI: 0.88-1.29, suggesting a gender-specific role. Half of the Caucasian-identified variants, including the recently fine-mapped BMP pathway loci, BMP4, GREM1, BMP2 and LAMA 5, did not show any evidence for association with CRC in SCH (OR ~1; p-value >0.1. Comparing the results of this study with that of the Northern and Hong Kong Chinese, only variants at chromosomes 8q24.21, 10p14, 11q23.1 and 18q21.1 were replicated in at least two out of the three Chinese studies.The contrasting results between Caucasians and Chinese could be due to different LD patterns and allelic frequencies or genetic heterogeneity. The results suggest that additional common variants contributing to CRC predisposition remained to be identified.

  15. Discrimination of candidate subgenome-specific loci by linkage map construction with an S1 population of octoploid strawberry (Fragaria × ananassa).

    Science.gov (United States)

    Nagano, Soichiro; Shirasawa, Kenta; Hirakawa, Hideki; Maeda, Fumi; Ishikawa, Masami; Isobe, Sachiko N

    2017-05-12

    The strawberry, Fragaria × ananassa, is an allo-octoploid (2n = 8x = 56) and outcrossing species. Although it is the most widely consumed berry crop in the world, its complex genome structure has hindered its genetic and genomic analysis, and thus discrimination of subgenome-specific loci among the homoeologous chromosomes is needed. In the present study, we identified candidate subgenome-specific single nucleotide polymorphism (SNP) and simple sequence repeat (SSR) loci, and constructed a linkage map using an S 1 mapping population of the cultivar 'Reikou' with an IStraw90 Axiom® SNP array and previously published SSR markers. The 'Reikou' linkage map consisted of 11,574 loci (11,002 SNPs and 572 SSR loci) spanning 2816.5 cM of 31 linkage groups. The 11,574 loci were located on 4738 unique positions (bin) on the linkage map. Of the mapped loci, 8999 (8588 SNPs and 411 SSR loci) showed a 1:2:1 segregation ratio of AA:AB:BB allele, which suggested the possibility of deriving loci from candidate subgenome-specific sequences. In addition, 2575 loci (2414 SNPs and 161 SSR loci) showed a 3:1 segregation of AB:BB allele, indicating they were derived from homoeologous genomic sequences. Comparative analysis of the homoeologous linkage groups revealed differences in genome structure among the subgenomes. Our results suggest that candidate subgenome-specific loci are randomly located across the genomes, and that there are small- to large-scale structural variations among the subgenomes. The mapped SNPs and SSR loci on the linkage map are expected to be seed points for the construction of pseudomolecules in the octoploid strawberry.

  16. SPLINE LINEAR REGRESSION USED FOR EVALUATING FINANCIAL ASSETS 1

    Directory of Open Access Journals (Sweden)

    Liviu GEAMBAŞU

    2010-12-01

    Full Text Available One of the most important preoccupations of financial markets participants was and still is the problem of determining more precise the trend of financial assets prices. For solving this problem there were written many scientific papers and were developed many mathematical and statistical models in order to better determine the financial assets price trend. If until recently the simple linear models were largely used due to their facile utilization, the financial crises that affected the world economy starting with 2008 highlight the necessity of adapting the mathematical models to variation of economy. A simple to use model but adapted to economic life realities is the spline linear regression. This type of regression keeps the continuity of regression function, but split the studied data in intervals with homogenous characteristics. The characteristics of each interval are highlighted and also the evolution of market over all the intervals, resulting reduced standard errors. The first objective of the article is the theoretical presentation of the spline linear regression, also referring to scientific national and international papers related to this subject. The second objective is applying the theoretical model to data from the Bucharest Stock Exchange

  17. Design and implementation of VUV-CD and LD measurements using an ac modulated polarizing undulator

    International Nuclear Information System (INIS)

    Yagi-Watanabe, K.; Yamada, T.; Tanaka, M.; Kaneko, F.; Kitada, T.; Ohta, Y.; Nakagawa, K.

    2005-01-01

    VUV circular dichroism (CD) and linear dichroism (LD) have been successfully measured at wavelengths beyond the conventional limit by using an ac modulated polarizing undulator. We have developed CD and LD measuring technique by polarization modulation at the source, without using transmission type polarizing modulator, to extend to the coverage to wavelengths shorter than 140-bar nm. AIST developed in 1986 ac polarizing undulator by using a electron storage ring 'TERAS' based on an original concept. The undulator which can produce any desired polarization of vertical- and horizontal-linear polarization (VLP and HLP) and right- and left-handed circular polarization (RCP and LCP) is specially well suited to both measurements of CD and LD. With this undulator, the polarization alternate in the order of VLP-RCP-HLP-RCP-VLP-LCP-HLP-LCP-VLP-, i.e. when circular polarization is modulated in f Hz, linear polarization alters in 2f Hz. This allows us simultaneous measurements of CD and LD. Since the TERAS can produce ac-modulated polarized radiation of wavelength as short as 40-bar nm, it is expected to have CD and LD measurement extended to 40-bar nm

  18. The Genetic Diversity and Structure of Linkage Disequilibrium of the MTHFR Gene in Populations of Northern Eurasia.

    Science.gov (United States)

    Trifonova, E A; Eremina, E R; Urnov, F D; Stepanov, V A

    2012-01-01

    The structure of the haplotypes and linkage disequilibrium (LD) of the methylenetetrahydrofolate reductase gene (MTHFR) in 9 population groups from Northern Eurasia and populations of the international HapMap project was investigated in the present study. The data suggest that the architecture of LD in the human genome is largely determined by the evolutionary history of populations; however, the results of phylogenetic and haplotype analyses seems to suggest that in fact there may be a common "old" mechanism for the formation of certain patterns of LD. Variability in the structure of LD and the level of diversity of MTHFRhaplotypes cause a certain set of tagSNPs with an established prognostic significance for each population. In our opinion, the results obtained in the present study are of considerable interest for understanding multiple genetic phenomena: namely, the association of interpopulation differences in the patterns of LD with structures possessing a genetic susceptibility to complex diseases, and the functional significance of the pleiotropicMTHFR gene effect. Summarizing the results of this study, a conclusion can be made that the genetic variability analysis with emphasis on the structure of LD in human populations is a powerful tool that can make a significant contribution to such areas of biomedical science as human evolutionary biology, functional genomics, genetics of complex diseases, and pharmacogenomics.

  19. Topology optimization based on spline-based meshfree method using topological derivatives

    International Nuclear Information System (INIS)

    Hur, Junyoung; Youn, Sung-Kie; Kang, Pilseong

    2017-01-01

    Spline-based meshfree method (SBMFM) is originated from the Isogeometric analysis (IGA) which integrates design and analysis through Non-uniform rational B-spline (NURBS) basis functions. SBMFM utilizes trimming technique of CAD system by representing the domain using NURBS curves. In this work, an explicit boundary topology optimization using SBMFM is presented with an effective boundary update scheme. There have been similar works in this subject. However unlike the previous works where semi-analytic method for calculating design sensitivities is employed, the design update is done by using topological derivatives. In this research, the topological derivative is used to derive the sensitivity of boundary curves and for the creation of new holes. Based on the values of topological derivatives, the shape of boundary curves is updated. Also, the topological change is achieved by insertion and removal of the inner holes. The presented approach is validated through several compliance minimization problems.

  20. Topology optimization based on spline-based meshfree method using topological derivatives

    Energy Technology Data Exchange (ETDEWEB)

    Hur, Junyoung; Youn, Sung-Kie [KAIST, Daejeon (Korea, Republic of); Kang, Pilseong [Korea Research Institute of Standards and Science, Daejeon (Korea, Republic of)

    2017-05-15

    Spline-based meshfree method (SBMFM) is originated from the Isogeometric analysis (IGA) which integrates design and analysis through Non-uniform rational B-spline (NURBS) basis functions. SBMFM utilizes trimming technique of CAD system by representing the domain using NURBS curves. In this work, an explicit boundary topology optimization using SBMFM is presented with an effective boundary update scheme. There have been similar works in this subject. However unlike the previous works where semi-analytic method for calculating design sensitivities is employed, the design update is done by using topological derivatives. In this research, the topological derivative is used to derive the sensitivity of boundary curves and for the creation of new holes. Based on the values of topological derivatives, the shape of boundary curves is updated. Also, the topological change is achieved by insertion and removal of the inner holes. The presented approach is validated through several compliance minimization problems.

  1. Mating Design and Genetic Structure of a Multi-Parent Advanced Generation Intercross (MAGIC Population of Sorghum (Sorghum bicolor (L. Moench

    Directory of Open Access Journals (Sweden)

    Patrick O. Ongom

    2018-01-01

    Full Text Available Multi-parent advanced generation intercross (MAGIC populations are powerful next-generation mapping resources. We describe here the mating design and structure of the first MAGIC population in sorghum, and test its utility for mapping. The population was developed by intercrossing 19 diverse founder lines through a series of paired crosses with a genetic male sterile (MS source, followed by 10 generations of random mating. At the final stage of random mating, 1000 random fertile plants in the population were identified and subjected to six generations of selfing to produce 1000 immortal MAGIC inbred lines. The development of this sorghum MAGIC population took over 15 yr. Genotyping-by-sequencing (GBS of a subset of 200 MAGIC lines identified 79,728 SNPs, spanning high gene-rich regions. Proportion of SNPs per chromosome ranged from 6 to 15%. Structure analyses produced no evidence of population stratification, portraying the desirability of this population for genome-wide association studies (GWAS. The 19 founders formed three clusters, each with considerable genetic diversity. Further analysis showed that 73% of founder alleles segregated in the MAGIC population. Linkage disequilibrium (LD patterns depicted the MAGIC population to be highly recombined, with LD decaying to r2 ≤ 0.2 at 40 kb and down to r2 ≤ 0.1 at 220 kb. GWAS detected two known plant height genes, DWARF1 (chromosome 9 and DWARF3 (chromosome 7, and a potentially new plant height quantitative trait locus (QTL (QTL-6 on chromosome 6. The MAGIC population was found to be rich in allelic content with high fragmentation of its genome, making it fit for both gene mapping and effective marker-assisted breeding.

  2. All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs

    DEFF Research Database (Denmark)

    Schork, Andrew J; Thompson, Wesley K; Pham, Phillip

    2013-01-01

    Recent results indicate that genome-wide association studies (GWAS) have the potential to explain much of the heritability of common complex phenotypes, but methods are lacking to reliably identify the remaining associated single nucleotide polymorphisms (SNPs). We applied stratified False...... Discovery Rate (sFDR) methods to leverage genic enrichment in GWAS summary statistics data to uncover new loci likely to replicate in independent samples. Specifically, we use linkage disequilibrium-weighted annotations for each SNP in combination with nominal p-values to estimate the True Discovery Rate...... in introns, and negative enrichment for intergenic SNPs. Stratified enrichment directly leads to increased TDR for a given p-value, mirrored by increased replication rates in independent samples. We show this in independent Crohn's disease GWAS, where we find a hundredfold variation in replication rate...

  3. Potential relationship between single nucleotide polymorphisms used in forensic genetics and diseases or other traits in European population.

    Science.gov (United States)

    Pombar-Gomez, Maria; Lopez-Lopez, Elixabet; Martin-Guerrero, Idoia; Garcia-Orad Carles, Africa; de Pancorbo, Marian M

    2015-05-01

    Single nucleotide polymorphisms (SNPs) are an interesting option to facilitate the analysis of highly degraded DNA by allowing the reduction of the size of the DNA amplicons. The SNPforID 52-plex panel is a clear example of the use of non-coding SNPs in forensic genetics. However, nonstop advances in studies of genetic polymorphisms are leading to the discovery of new associations between SNPs and diseases. The aim of this study was to perform a comprehensive review of the state of association between the 52 SNPs in the 52-plex panel and diseases or other traits related to their treatment, such as drug response characters. In order to achieve this goal, we have conducted a bioinformatic search for each SNP included in the panel and the SNPs in linkage disequilibrium (LD) with them in the European population (r (2)  > 0.8). A total of 424 SNPs (52 in the panel and 372 in LD) were investigated in PubMed, Scopus, and dbSNP databases. Our results show that three SNPs in the SNPforID 52-plex panel (rs2107612, rs1979255, rs1463729) have been associated with diseases such as hypertension or macular degeneration, as well as drug response. Similarly, three out of the 372 SNPs in LD (rs2107614, r (2)  = 0.859; rs765250, r (2)  = 0.858; rs11064560, r (2)  = 0,887) are also associated with various pathologies. In view of these results, we propose the need for a periodic review of the SNPs used in forensic genetics in order to keep their associations with diseases or related phenotypes updated and to evaluate their continuity in forensic panels for avoiding legal and ethical conflicts.

  4. Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans

    DEFF Research Database (Denmark)

    Amin Al Olama, Ali; Dadaev, Tokhir; Hazelett, Dennis J

    2015-01-01

    associated lead SNP, while the originally reported variant remained as the lead SNP only in 4 regions. We also confirmed two association signals in Europeans that had been previously reported only in East-Asian GWAS. Based on statistical evidence and linkage disequilibrium (LD) structure, we have curated...... identified here alongside the refined data for existing association signals, we estimate that these loci now explain ∼38.9% of the familial relative risk of PrCa, an 8.9% improvement over the previously reported GWAS tag SNPs. This suggests that a significant fraction of the heritability of PrCa may have...

  5. Penentuan Nilai Ld50 Ekstrak Etanol Bawang Bombay (Allium Cepa L.) Pada Mencit Jantan

    OpenAIRE

    Amalia, Nofria Rizki

    2017-01-01

    131501110 LD50 (Lethal Dose50) merupakan salah satu parameter yang dapat menentukan derajat toksisitas suatu bahan. Uji toksisitas ini mengevaluasi besarnya dosis yang dapat menimbulkan efek toksik dan kematian pada hewan uji. Bawang bombay (Allium cepa L.) memiliki khasiat sebagaiantibakteri, antioksidan, antimutagenik, dan antiinflamasi. Tujuandaripenelitianiniadalahuntuk menentukan nilai LD50dariekstraketanolbawang bombaypadamencitjantan. Penelitianinimerupakanpenelitianeksperimental...

  6. A financial impact assessment of LD 1725 : stream crossings.

    Science.gov (United States)

    2011-01-01

    This report looks at the potential financial impact of LD 1725, a Maine Legislative bill that was : considered during the second regular session of the 124th Maine Legislature. The bill would : affect the design & construction of an estimated 30,000 ...

  7. Dag Hammarskjöld and the international community today

    African Journals Online (AJOL)

    advocating a Responsibility to Protect and representing the most advanced ... 1 I already had the privilege to share similar thoughts on Hammarskjöld and the challenges ..... to secure a future for men, women and their children on this earth.

  8. Genome-wide distribution of genetic diversity and linkage disequilibrium in a mass-selected population of maritime pine

    Science.gov (United States)

    2014-01-01

    Background The accessibility of high-throughput genotyping technologies has contributed greatly to the development of genomic resources in non-model organisms. High-density genotyping arrays have only recently been developed for some economically important species such as conifers. The potential for using genomic technologies in association mapping and breeding depends largely on the genome wide patterns of diversity and linkage disequilibrium in current breeding populations. This study aims to deepen our knowledge regarding these issues in maritime pine, the first species used for reforestation in south western Europe. Results Using a new map merging algorithm, we first established a 1,712 cM composite linkage map (comprising 1,838 SNP markers in 12 linkage groups) by bringing together three already available genetic maps. Using rigorous statistical testing based on kernel density estimation and resampling we identified cold and hot spots of recombination. In parallel, 186 unrelated trees of a mass-selected population were genotyped using a 12k-SNP array. A total of 2,600 informative SNPs allowed to describe historical recombination, genetic diversity and genetic structure of this recently domesticated breeding pool that forms the basis of much of the current and future breeding of this species. We observe very low levels of population genetic structure and find no evidence that artificial selection has caused a reduction in genetic diversity. By combining these two pieces of information, we provided the map position of 1,671 SNPs corresponding to 1,192 different loci. This made it possible to analyze the spatial pattern of genetic diversity (H e ) and long distance linkage disequilibrium (LD) along the chromosomes. We found no particular pattern in the empirical variogram of H e across the 12 linkage groups and, as expected for an outcrossing species with large effective population size, we observed an almost complete lack of long distance LD. Conclusions These

  9. Cubic-spline interpolation to estimate effects of inbreeding on milk yield in first lactation Holstein cows

    Directory of Open Access Journals (Sweden)

    Makram J. Geha

    2011-01-01

    Full Text Available Milk yield records (305d, 2X, actual milk yield of 123,639 registered first lactation Holstein cows were used to compare linear regression (y = β0 + β1X + e ,quadratic regression, (y = β0 + β1X + β2X2 + e cubic regression (y = β0 + β1X + β2X2 + β3X3 + e and fixed factor models, with cubic-spline interpolation models, for estimating the effects of inbreeding on milk yield. Ten animal models, all with herd-year-season of calving as fixed effect, were compared using the Akaike corrected-Information Criterion (AICc. The cubic-spline interpolation model with seven knots had the lowest AICc, whereas for all those labeled as "traditional", AICc was higher than the best model. Results from fitting inbreeding using a cubic-spline with seven knots were compared to results from fitting inbreeding as a linear covariate or as a fixed factor with seven levels. Estimates of inbreeding effects were not significantly different between the cubic-spline model and the fixed factor model, but were significantly different from the linear regression model. Milk yield decreased significantly at inbreeding levels greater than 9%. Variance component estimates were similar for the three models. Ranking of the top 100 sires with daughter records remained unaffected by the model used.

  10. Cross-linking BioThings APIs through JSON-LD to facilitate knowledge exploration.

    Science.gov (United States)

    Xin, Jiwen; Afrasiabi, Cyrus; Lelong, Sebastien; Adesara, Julee; Tsueng, Ginger; Su, Andrew I; Wu, Chunlei

    2018-02-01

    Application Programming Interfaces (APIs) are now widely used to distribute biological data. And many popular biological APIs developed by many different research teams have adopted Javascript Object Notation (JSON) as their primary data format. While usage of a common data format offers significant advantages, that alone is not sufficient for rich integrative queries across APIs. Here, we have implemented JSON for Linking Data (JSON-LD) technology on the BioThings APIs that we have developed, MyGene.info , MyVariant.info and MyChem.info . JSON-LD provides a standard way to add semantic context to the existing JSON data structure, for the purpose of enhancing the interoperability between APIs. We demonstrated several use cases that were facilitated by semantic annotations using JSON-LD, including simpler and more precise query capabilities as well as API cross-linking. We believe that this pattern offers a generalizable solution for interoperability of APIs in the life sciences.

  11. Single nucleotide polymorphisms (SNPs in coding regions of canine dopamine- and serotonin-related genes

    Directory of Open Access Journals (Sweden)

    Lingaas Frode

    2008-01-01

    Full Text Available Abstract Background Polymorphism in genes of regulating enzymes, transporters and receptors of the neurotransmitters of the central nervous system have been associated with altered behaviour, and single nucleotide polymorphisms (SNPs represent the most frequent type of genetic variation. The serotonin and dopamine signalling systems have a central influence on different behavioural phenotypes, both of invertebrates and vertebrates, and this study was undertaken in order to explore genetic variation that may be associated with variation in behaviour. Results Single nucleotide polymorphisms in canine genes related to behaviour were identified by individually sequencing eight dogs (Canis familiaris of different breeds. Eighteen genes from the dopamine and the serotonin systems were screened, revealing 34 SNPs distributed in 14 of the 18 selected genes. A total of 24,895 bp coding sequence was sequenced yielding an average frequency of one SNP per 732 bp (1/732. A total of 11 non-synonymous SNPs (nsSNPs, which may be involved in alteration of protein function, were detected. Of these 11 nsSNPs, six resulted in a substitution of amino acid residue with concomitant change in structural parameters. Conclusion We have identified a number of coding SNPs in behaviour-related genes, several of which change the amino acids of the proteins. Some of the canine SNPs exist in codons that are evolutionary conserved between five compared species, and predictions indicate that they may have a functional effect on the protein. The reported coding SNP frequency of the studied genes falls within the range of SNP frequencies reported earlier in the dog and other mammalian species. Novel SNPs are presented and the results show a significant genetic variation in expressed sequences in this group of genes. The results can contribute to an improved understanding of the genetics of behaviour.

  12. Multi-ethnic fine-mapping of 14 central adiposity loci

    DEFF Research Database (Denmark)

    Liu, Ching-Ti; Buchkovich, Martin L; Winkler, Thomas W

    2014-01-01

    precise localizations of potential functional variants and suggest a possible regulatory role. Meta-analysis results for WHR were obtained from 77 167 EA participants from GIANT and 23 564 AA participants from the African Ancestry Anthropometry Genetics Consortium. For fine mapping we interrogated SNPs...

  13. Classroom Behavior Patterns of EMH, LD, and EH Students.

    Science.gov (United States)

    McKinney, James D.; Forman, Susan G.

    1982-01-01

    Investigated whether classroom teachers could differentiate among educable mentally handicapped (EMH), learning disabled (LD), and emotionally handicapped (EH) students based on perceptions of classroom behavior patterns. Ratings from classroom behavior inventory scales revealed that EMH students were distinguished by low intelligence, creativity,…

  14. The core spline method for solution of quantum-mechanical systems of differential equations for bound states

    International Nuclear Information System (INIS)

    Aleksandrov, L.; Drenska, M.; Karadzhov, D.

    1986-01-01

    A generalization of the core spline method is given in the case of solution of the general bound state problem for a system of M linear differential equations with coefficients depending on the spectral parameter. The recursion scheme for construction of basic splines is described. The wave functions are expressed as linear combinations of basic splines, which are approximate partial solutions of the system. The spectral parameter (the eigenvalue) is determined from the condition for existence of a nontrivial solution of a (MxM) linear algebraic system at the last collocation point. The nontrivial solutions of this system determine (M - 1) coefficients of the linear spans, expressing the wave functions. The last unknown coefficient is determined from a boundary (or normalization) condition for the system. The computational aspects of the method are discussed, in particular, its concrete algorithmic realization used in the RODSOL program. The numerical solution of the Dirac system for the bound states of a hydrogen atom is given is an example

  15. Kinetic studies and evaluation of potential compounds for the chemotherapy of Leishmaniasis using LdNH-MBP

    Energy Technology Data Exchange (ETDEWEB)

    Renno, M.N.; Figueroa-Villar, J.D. [Instituto Militar de Engenharia (IME), Rio de Janeiro, RJ (Brazil). Dept. de Quimica; Silva, N.B. da; Tinoco, L.W. [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). Nucleo de Pesquisas de Produtos Naturais; Borja-Cabrera, G.P.; Palatnik-de-Sousa, C.B.P. [Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). Inst. de Microbiologia

    2008-07-01

    Full text: Protozoan parasites rely exclusively on purine salvage from the host for DNA and RNA synthesis and nucleoside hydrolases (N Hs) are the enzymes that catalyze the N-rib osyl hydrolysis of all commonly occurring purine and pi rimidine nucleosides, thus being excellent targets for the design of antiparasitic compounds. The general aim of our work with Leishmania donovani NH (LdNH) is to find new inhibitors for this enzyme as potential agents for the chemotherapy of visceral leishmaniasis. In this part of the work we expressed LdNH bound to maltose-binding protein (MBP) in E. coli using the pMAL-C2x vector. After purification by affinity chromatography the enzyme activity was monitored by UV (280 nm) and {sup 1}H NMR spectroscopy using inosine as substrate. All the assays were carried out at 25 deg C in phosphate buffer (pH 8.0) in water (UV) and D{sub 2}O (NMR). Our results show that LdNH-MBP behaves kinetically in the same way as it have been reported for free LdNH, thus confirming that LdNH-MBP maintains the appropriate folding and activity of the enzyme active site, thus being a good model to develop and evaluate new inhibitors of LdNH. As an example, the kinetics tests with AZT have shown that this compound is not an effective inhibitor of this enzyme.

  16. Kinetic studies and evaluation of potential compounds for the chemotherapy of Leishmaniasis using LdNH-MBP

    International Nuclear Information System (INIS)

    Renno, M.N.; Figueroa-Villar, J.D.; Silva, N.B. da; Tinoco, L.W.; Borja-Cabrera, G.P.; Palatnik-de-Sousa, C.B.P.

    2008-01-01

    Full text: Protozoan parasites rely exclusively on purine salvage from the host for DNA and RNA synthesis and nucleoside hydrolases (N Hs) are the enzymes that catalyze the N-rib osyl hydrolysis of all commonly occurring purine and pi rimidine nucleosides, thus being excellent targets for the design of antiparasitic compounds. The general aim of our work with Leishmania donovani NH (LdNH) is to find new inhibitors for this enzyme as potential agents for the chemotherapy of visceral leishmaniasis. In this part of the work we expressed LdNH bound to maltose-binding protein (MBP) in E. coli using the pMAL-C2x vector. After purification by affinity chromatography the enzyme activity was monitored by UV (280 nm) and 1 H NMR spectroscopy using inosine as substrate. All the assays were carried out at 25 deg C in phosphate buffer (pH 8.0) in water (UV) and D 2 O (NMR). Our results show that LdNH-MBP behaves kinetically in the same way as it have been reported for free LdNH, thus confirming that LdNH-MBP maintains the appropriate folding and activity of the enzyme active site, thus being a good model to develop and evaluate new inhibitors of LdNH. As an example, the kinetics tests with AZT have shown that this compound is not an effective inhibitor of this enzyme

  17. Quantitative trait locus mapping of deep rooting by linkage and association analysis in rice.

    Science.gov (United States)

    Lou, Qiaojun; Chen, Liang; Mei, Hanwei; Wei, Haibin; Feng, Fangjun; Wang, Pei; Xia, Hui; Li, Tiemei; Luo, Lijun

    2015-08-01

    Deep rooting is a very important trait for plants' drought avoidance, and it is usually represented by the ratio of deep rooting (RDR). Three sets of rice populations were used to determine the genetic base for RDR. A linkage mapping population with 180 recombinant inbred lines and an association mapping population containing 237 rice varieties were used to identify genes linked to RDR. Six quantitative trait loci (QTLs) of RDR were identified as being located on chromosomes 1, 2, 4, 7, and 10. Using 1 019 883 single-nucleotide polymorphisms (SNPs), a genome-wide association study of the RDR was performed. Forty-eight significant SNPs of the RDR were identified and formed a clear peak on the short arm of chromosome 1 in a Manhattan plot. Compared with the shallow-rooting group and the whole collection, the deep-rooting group had selective sweep regions on chromosomes 1 and 2, especially in the major QTL region on chromosome 2. Seven of the nine candidate SNPs identified by association mapping were verified in two RDR extreme groups. The findings from this study will be beneficial to rice drought-resistance research and breeding. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  18. Improvement of the Cubic Spline Function Sets for a Synthesis of the Axial Power Distribution of a Core Protection System

    International Nuclear Information System (INIS)

    Koo, Bon-Seung; Lee, Chung-Chan; Zee, Sung-Quun

    2006-01-01

    Online digital core protection system(SCOPS) for a system-integrated modular reactor is being developed as a part of a plant protection system at KAERI. SCOPS calculates the minimum CHFR and maximum LPD based on several online measured system parameters including 3-level ex-core detector signals. In conventional ABB-CE digital power plants, cubic spline synthesis technique has been used in online calculations of the core axial power distributions using ex-core detector signals once every 1 second in CPC. In CPC, pre-determined cubic spline function sets are used depending on the characteristics of the ex-core detector responses. But this method shows an unnegligible power distribution error for the extremely skewed axial shapes by using restrictive function sets. Therefore, this paper describes the cubic spline method for the synthesis of an axial power distribution and it generates several new cubic spline function sets for the application of the core protection system, especially for the severely distorted power shapes needed reactor type

  19. En socialpsykologisk analys av samkönat partnervåld ur ett makt- och normativitetsperspektiv

    OpenAIRE

    von Braun, Thérèse

    2009-01-01

    Uppsatsens syfte var att nå en större teoretisk förståelse av samkönat partnervåld, genom att analysera olika forskningsartiklars narrativa konstruktioner av våldet. De två frågeställningarna var: 1. Hur diskuterar forskningslitteraturen samkönat partnervåld med fokus på temana relationsdynamik, karaktär hos parterna, kön, genus och sexualitet samt betydelsen av social kontext? 2. Hur diskuterar forskningslitteraturen det professionella bemötandet av samkönat partnervåld? De 21 valda primärdo...

  20. How to find a leucine in a haystack? Structure, ligand recognition and regulation of leucine-aspartic acid (LD) motifs

    KAUST Repository

    Alam, Tanvir

    2014-05-29

    LD motifs (leucine-aspartic acidmotifs) are short helical protein-protein interaction motifs that have emerged as key players in connecting cell adhesion with cell motility and survival. LD motifs are required for embryogenesis, wound healing and the evolution of multicellularity. LD motifs also play roles in disease, such as in cancer metastasis or viral infection. First described in the paxillin family of scaffolding proteins, LD motifs and similar acidic LXXLL interaction motifs have been discovered in several other proteins, whereas 16 proteins have been reported to contain LDBDs (LD motif-binding domains). Collectively, structural and functional analyses have revealed a surprising multivalency in LD motif interactions and a wide diversity in LDBD architectures. In the present review, we summarize the molecular basis for function, regulation and selectivity of LD motif interactions that has emerged from more than a decade of research. This overview highlights the intricate multi-level regulation and the inherently noisy and heterogeneous nature of signalling through short protein-protein interaction motifs. © 2014 Biochemical Society.

  1. How to find a leucine in a haystack? Structure, ligand recognition and regulation of leucine-aspartic acid (LD) motifs

    KAUST Repository

    Alam, Tanvir; Alazmi, Meshari; Gao, Xin; Arold, Stefan T.

    2014-01-01

    LD motifs (leucine-aspartic acidmotifs) are short helical protein-protein interaction motifs that have emerged as key players in connecting cell adhesion with cell motility and survival. LD motifs are required for embryogenesis, wound healing and the evolution of multicellularity. LD motifs also play roles in disease, such as in cancer metastasis or viral infection. First described in the paxillin family of scaffolding proteins, LD motifs and similar acidic LXXLL interaction motifs have been discovered in several other proteins, whereas 16 proteins have been reported to contain LDBDs (LD motif-binding domains). Collectively, structural and functional analyses have revealed a surprising multivalency in LD motif interactions and a wide diversity in LDBD architectures. In the present review, we summarize the molecular basis for function, regulation and selectivity of LD motif interactions that has emerged from more than a decade of research. This overview highlights the intricate multi-level regulation and the inherently noisy and heterogeneous nature of signalling through short protein-protein interaction motifs. © 2014 Biochemical Society.

  2. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium.

    Science.gov (United States)

    Milne, Roger L; Burwinkel, Barbara; Michailidou, Kyriaki; Arias-Perez, Jose-Ignacio; Zamora, M Pilar; Menéndez-Rodríguez, Primitiva; Hardisson, David; Mendiola, Marta; González-Neira, Anna; Pita, Guillermo; Alonso, M Rosario; Dennis, Joe; Wang, Qin; Bolla, Manjeet K; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Schoemaker, Minouk; Ko, Yon-Dschun; Brauch, Hiltrud; Hamann, Ute; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Tchatchou, Sandrine; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tajima, Kazuo; Li, Jingmei; Brand, Judith S; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Lambrechts, Diether; Peuteman, Gilian; Christiaens, Marie-Rose; Smeets, Ann; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katazyna; Hartman, Mikael; Hui, Miao; Yen Lim, Wei; Wan Chan, Ching; Marme, Federick; Yang, Rongxi; Bugert, Peter; Lindblom, Annika; Margolin, Sara; García-Closas, Montserrat; Chanock, Stephen J; Lissowska, Jolanta; Figueroa, Jonine D; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Hooning, Maartje J; Kriege, Mieke; van den Ouweland, Ans M W; Koppert, Linetta B; Fletcher, Olivia; Johnson, Nichola; dos-Santos-Silva, Isabel; Peto, Julian; Zheng, Wei; Deming-Halverson, Sandra; Shrubsole, Martha J; Long, Jirong; Chang-Claude, Jenny; Rudolph, Anja; Seibold, Petra; Flesch-Janys, Dieter; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Cox, Angela; Cross, Simon S; Reed, Malcolm W R; Schmidt, Marjanka K; Broeks, Annegien; Cornelissen, Sten; Braaf, Linde; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K; Noh, Dong-Young; Simard, Jacques; Dumont, Martine; Goldberg, Mark S; Labrèche, France; Fasching, Peter A; Hein, Alexander; Ekici, Arif B; Beckmann, Matthias W; Radice, Paolo; Peterlongo, Paolo; Azzollini, Jacopo; Barile, Monica; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Miller, Nicola; Hopper, John L; Schmidt, Daniel F; Makalic, Enes; Southey, Melissa C; Hwang Teo, Soo; Har Yip, Cheng; Sivanandan, Kavitta; Tay, Wan-Ting; Shen, Chen-Yang; Hsiung, Chia-Ni; Yu, Jyh-Cherng; Hou, Ming-Feng; Guénel, Pascal; Truong, Therese; Sanchez, Marie; Mulot, Claire; Blot, William; Cai, Qiuyin; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Wu, Anna H; Tseng, Chiu-Chen; Van Den Berg, David; Stram, Daniel O; Bogdanova, Natalia; Dörk, Thilo; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Zhang, Ben; Couch, Fergus J; Toland, Amanda E; Yannoukakos, Drakoulis; Sangrajrang, Suleeporn; McKay, James; Wang, Xianshu; Olson, Janet E; Vachon, Celine; Purrington, Kristen; Severi, Gianluca; Baglietto, Laura; Haiman, Christopher A; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Devilee, Peter; Tollenaar, Robert A E M; Seynaeve, Caroline; Czene, Kamila; Eriksson, Mikael; Humphreys, Keith; Darabi, Hatef; Ahmed, Shahana; Shah, Mitul; Pharoah, Paul D P; Hall, Per; Giles, Graham G; Benítez, Javier; Dunning, Alison M; Chenevix-Trench, Georgia; Easton, Douglas F

    2014-11-15

    Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: ATXN7-K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04-1.10, P = 2.9 × 10(-6)], AKAP9-M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03-1.07, P = 1.7 × 10(-6)) and NEK10-L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07-1.12, P = 5.1 × 10(-17)). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine genome-wide association studies (GWASs): for ATXN7-K264R, OR = 1.07 (95% CI = 1.05-1.10, P = 1.0 × 10(-8)); for AKAP9-M463I, OR = 1.05 (95% CI = 1.04-1.07, P = 2.0 × 10(-10)). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act. © The

  3. B-Spline Active Contour with Handling of Topology Changes for Fast Video Segmentation

    Directory of Open Access Journals (Sweden)

    Frederic Precioso

    2002-06-01

    Full Text Available This paper deals with video segmentation for MPEG-4 and MPEG-7 applications. Region-based active contour is a powerful technique for segmentation. However most of these methods are implemented using level sets. Although level-set methods provide accurate segmentation, they suffer from large computational cost. We propose to use a regular B-spline parametric method to provide a fast and accurate segmentation. Our B-spline interpolation is based on a fixed number of points 2j depending on the level of the desired details. Through this spatial multiresolution approach, the computational cost of the segmentation is reduced. We introduce a length penalty. This results in improving both smoothness and accuracy. Then we show some experiments on real-video sequences.

  4. Genomic Selection for Drought Tolerance Using Genome-Wide SNPs in Maize

    Directory of Open Access Journals (Sweden)

    Thirunavukkarasu Nepolean

    2017-04-01

    Full Text Available Traditional breeding strategies for selecting superior genotypes depending on phenotypic traits have proven to be of limited success, as this direct selection is hindered by low heritability, genetic interactions such as epistasis, environmental-genotype interactions, and polygenic effects. With the advent of new genomic tools, breeders have paved a way for selecting superior breeds. Genomic selection (GS has emerged as one of the most important approaches for predicting genotype performance. Here, we tested the breeding values of 240 maize subtropical lines phenotyped for drought at different environments using 29,619 cured SNPs. Prediction accuracies of seven genomic selection models (ridge regression, LASSO, elastic net, random forest, reproducing kernel Hilbert space, Bayes A and Bayes B were tested for their agronomic traits. Though prediction accuracies of Bayes B, Bayes A and RKHS were comparable, Bayes B outperformed the other models by predicting highest Pearson correlation coefficient in all three environments. From Bayes B, a set of the top 1053 significant SNPs with higher marker effects was selected across all datasets to validate the genes and QTLs. Out of these 1053 SNPs, 77 SNPs associated with 10 drought-responsive transcription factors. These transcription factors were associated with different physiological and molecular functions (stomatal closure, root development, hormonal signaling and photosynthesis. Of several models, Bayes B has been shown to have the highest level of prediction accuracy for our data sets. Our experiments also highlighted several SNPs based on their performance and relative importance to drought tolerance. The result of our experiments is important for the selection of superior genotypes and candidate genes for breeding drought-tolerant maize hybrids.

  5. Predicting deleterious nsSNPs: an analysis of sequence and structural attributes

    Directory of Open Access Journals (Sweden)

    Saqi Mansoor AS

    2006-04-01

    Full Text Available Abstract Background There has been an explosion in the number of single nucleotide polymorphisms (SNPs within public databases. In this study we focused on non-synonymous protein coding single nucleotide polymorphisms (nsSNPs, some associated with disease and others which are thought to be neutral. We describe the distribution of both types of nsSNPs using structural and sequence based features and assess the relative value of these attributes as predictors of function using machine learning methods. We also address the common problem of balance within machine learning methods and show the effect of imbalance on nsSNP function prediction. We show that nsSNP function prediction can be significantly improved by 100% undersampling of the majority class. The learnt rules were then applied to make predictions of function on all nsSNPs within Ensembl. Results The measure of prediction success is greatly affected by the level of imbalance in the training dataset. We found the balanced dataset that included all attributes produced the best prediction. The performance as measured by the Matthews correlation coefficient (MCC varied between 0.49 and 0.25 depending on the imbalance. As previously observed, the degree of sequence conservation at the nsSNP position is the single most useful attribute. In addition to conservation, structural predictions made using a balanced dataset can be of value. Conclusion The predictions for all nsSNPs within Ensembl, based on a balanced dataset using all attributes, are available as a DAS annotation. Instructions for adding the track to Ensembl are at http://www.brightstudy.ac.uk/das_help.html

  6. Application of SNPs for population genetics of nonmodel organisms: new opportunities and challenges

    DEFF Research Database (Denmark)

    Helyar, S.J.; Hansen, Jakob Hemmer; Bekkevold, Dorte

    2011-01-01

    Recent improvements in the speed, cost and accuracy of next generation sequencing are revolutionizing the discovery of single nucleotide polymorphisms (SNPs). SNPs are increasingly being used as an addition to the molecular ecology toolkit in nonmodel organisms, but their efficient use remains...

  7. Biomarker Detection in Association Studies: Modeling SNPs Simultaneously via Logistic ANOVA

    KAUST Repository

    Jung, Yoonsuh

    2014-10-02

    In genome-wide association studies, the primary task is to detect biomarkers in the form of Single Nucleotide Polymorphisms (SNPs) that have nontrivial associations with a disease phenotype and some other important clinical/environmental factors. However, the extremely large number of SNPs comparing to the sample size inhibits application of classical methods such as the multiple logistic regression. Currently the most commonly used approach is still to analyze one SNP at a time. In this paper, we propose to consider the genotypes of the SNPs simultaneously via a logistic analysis of variance (ANOVA) model, which expresses the logit transformed mean of SNP genotypes as the summation of the SNP effects, effects of the disease phenotype and/or other clinical variables, and the interaction effects. We use a reduced-rank representation of the interaction-effect matrix for dimensionality reduction, and employ the L 1-penalty in a penalized likelihood framework to filter out the SNPs that have no associations. We develop a Majorization-Minimization algorithm for computational implementation. In addition, we propose a modified BIC criterion to select the penalty parameters and determine the rank number. The proposed method is applied to a Multiple Sclerosis data set and simulated data sets and shows promise in biomarker detection.

  8. Biomarker Detection in Association Studies: Modeling SNPs Simultaneously via Logistic ANOVA

    KAUST Repository

    Jung, Yoonsuh; Huang, Jianhua Z.; Hu, Jianhua

    2014-01-01

    In genome-wide association studies, the primary task is to detect biomarkers in the form of Single Nucleotide Polymorphisms (SNPs) that have nontrivial associations with a disease phenotype and some other important clinical/environmental factors. However, the extremely large number of SNPs comparing to the sample size inhibits application of classical methods such as the multiple logistic regression. Currently the most commonly used approach is still to analyze one SNP at a time. In this paper, we propose to consider the genotypes of the SNPs simultaneously via a logistic analysis of variance (ANOVA) model, which expresses the logit transformed mean of SNP genotypes as the summation of the SNP effects, effects of the disease phenotype and/or other clinical variables, and the interaction effects. We use a reduced-rank representation of the interaction-effect matrix for dimensionality reduction, and employ the L 1-penalty in a penalized likelihood framework to filter out the SNPs that have no associations. We develop a Majorization-Minimization algorithm for computational implementation. In addition, we propose a modified BIC criterion to select the penalty parameters and determine the rank number. The proposed method is applied to a Multiple Sclerosis data set and simulated data sets and shows promise in biomarker detection.

  9. GLOBAL INTEGRATED ISR: A BETTER ORGANIZATIONAL CONSTRUCT FOR AIR FORCE LD/HD ISR

    Science.gov (United States)

    2017-04-06

    E-8 intelligence, surveillance, and reconnaissance (ISR) aircraft it refers to as Low Density/High Demand (LD/HD). Current worldwide demand for LD...would allow for the easy flow of missions across CCMD boundaries within, or even inside, the normal book process timeline without having to approach...Quarter 2007). Harvard , James W. "Airmen and Mission Command." Air and Space Power Journal, March - April 2013: 131-146. Headquarters Air Force, Air

  10. All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs

    NARCIS (Netherlands)

    Schork, Andrew J.; Thompson, Wesley K.; Pham, Phillip; Torkamani, Ali; Roddey, J. Cooper; Sullivan, Patrick F.; Kelsoe, John R.; O'Donovan, Michael C.; Furberg, Helena; Schork, Nicholas J.; Andreassen, Ole A.; Dale, Anders M.; Absher, Devin; Agudo, Antonio; Almgren, Peter; Ardissino, Diego; Assimes, Themistocles L.; Bandinelli, Stephania; Barzan, Luigi; Bencko, Vladimir; Benhamou, Simone; Benjamin, Emelia J.; Bernardinelli, Luisa; Bis, Joshua; Boehnke, Michael; Boerwinkle, Eric; Boomsma, Dorret I.; Brennan, Paul; Canova, Cristina; Castellsagué, Xavier; Chanock, Stephen; Chasman, Daniel; Conway, David I.; Dackor, Jennifer; de Geus, Eco J. C.; Duan, Jubao; Elosua, Roberto; Everett, Brendan; Fabianova, Eleonora; Ferrucci, Luigi; Foretova, Lenka; Fortmann, Stephen P.; Franceschini, Nora; Frayling, Timothy; Furberg, Curt; Gejman, Pablo V.; Groop, Leif; Gu, Fangyi; de Haan, Lieuwe; Linszen, Don H.

    2013-01-01

    Recent results indicate that genome-wide association studies (GWAS) have the potential to explain much of the heritability of common complex phenotypes, but methods are lacking to reliably identify the remaining associated single nucleotide polymorphisms (SNPs). We applied stratified False Discovery

  11. All SNPs are not created equal: Genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs

    NARCIS (Netherlands)

    Schork, A.J.; Thompson, W.K.; Pham, P.; Torkamani, A.; Roddey, J.C.; Sullivan, P.F.; Kelsoe, J.; O'Donovan, M.C.; Furberg, H.; Absher, D.; Agudo, A.; Almgren, P.; Ardissino, D.; Assimes, T.L.; Bandinelli, S.; Barzan, L.; Bencko, V.; Benhamou, S.; Benjamin, E.J.; Bernardinelli, L.; Bis, J.; Boehnke, M.; Boerwinkle, E.; Boomsma, D.I.; Brennan, P.; Canova, C.; Castellsagué, X.; Chanock, S.; Chasman, D.I.; Conway, D.I.; Dackor, J.; de Geus, E.J.C.; Duan, J.; Elosua, R.; Everett, B.; Fabianova, E.; Ferrucci, L.; Foretova, L.; Fortmann, S.P.; Franceschini, N.; Frayling, T.M.; Furberg, C.; Gejman, P.V.; Groop, L.; Gu, F.; Guralnik, J.; Hankinson, S.E.; Haritunians, T.; Healy, C.; Hofman, A.; Holcátová, I.; Hunter, D.J.; Hwang, S.J.; Ioannidis, J.P.A.; Iribarren, C.; Jackson, A.U.; Janout, V.; Kaprio, J.; Kim, Y.; Kjaerheim, K.; Knowles, J.W.; Kraft, P.; Ladenvall, C.; Lagiou, P.; Lanthrop, M.; Lerman, C.; Levinson, D.F.; Levy, D.; Li, M.D.; Lin, D.Y.; Lips, E.H.; Lissowska, J.; Lowry, R.B.; Lucas, G.; Macfarlane, T.V.; Maes, H.H.M.; Mannucci, P.M.; Mates, D.; Mauri, F.; McGovern, J.A.; McKay, J.D.; McKnight, B.; Melander, O.; Merlini, P.A.; Milaneschi, Y.; Mohlke, K.L.; O'Donnell, C.J.; Pare, G.; Penninx, B.W.J.H.; Perry, J.R.B.; Posthuma, D.; Preis, S.R.; Psaty, B.; Quertermous, T.; Ramachandran, V.S.; Richiardi, L.; Ridker, P.M.; Rose, J.; Rudnai, P.; Salomaa, V.; Sanders, A.R.; Schwartz, S.M.; Shi, J.; Smit, J.H.; Stringham, H.M.; Szeszenia-Dabrowska, N.; Tanaka, T.; Taylor, K.; Thacker, E.E.; Thornton, L.; Tiemeier, H.; Tuomilehto, J.; Uitterlinden, A.G.; van Duijn, C.M.; Vink, J.M.; Vogelzangs, N.; Voight, B.F.; Walter, S.; Willemsen, G.; Zaridze, D.; Znaor, A.; Akil, H.; Anjorin, A.; Backlund, L.; Badner, J.A.; Barchas, J.D.; Barrett, T.; Bass, N.; Bauer, M.; Bellivier, F.; Bergen, S.E.; Berrettini, W.; Blackwood, D.; Bloss, C.S.; Breen, G.; Breuer, R.; Bunner, W.E.; Burmeister, M.; Byerley, W. F.; Caesar, S.; Chambert, K.; Cichon, S.; St Clair, D.; Collier, D.A.; Corvin, A.; Coryell, W.H.; Craddock, N.; Craig, D.W.; Daly, M.; Day, R.; Degenhardt, F.; Djurovic, S.; Dudbridge, F.; Edenberg, H.J.; Elkin, A.; Etain, B.; Farmer, A.E.; Ferreira, M.A.; Ferrier, I.; Flickinger, M.; Foroud, T.; Frank, J.; Fraser, C.; Frisén, L.; Gershon, E.S.; Gill, M.; Gordon-Smith, K.; Green, E.K.; Greenwood, T.A.; Grozeva, D.; Guan, W.; Gurling, H.; Gustafsson, O.; Hamshere, M.L.; Hautzinger, M.; Herms, S.; Hipolito, M.; Holmans, P.A.; Hultman, C. M.; Jamain, S.; Jones, E.G.; Jones, I.; Jones, L.; Kandaswamy, R.; Kennedy, J.L.; Kirov, G. K.; Koller, D.L.; Kwan, P.; Landén, M.; Langstrom, N.; Lathrop, M.; Lawrence, J.; Lawson, W.B.; Leboyer, M.; Lee, P.H.; Li, J.; Lichtenstein, P.; Lin, D.; Liu, C.; Lohoff, F.W.; Lucae, S.; Mahon, P.B.; Maier, W.; Martin, N.G.; Mattheisen, M.; Matthews, K.; Mattingsdal, M.; McGhee, K.A.; McGuffin, P.; McInnis, M.G.; McIntosh, A.; McKinney, R.; McLean, A.W.; McMahon, F.J.; McQuillin, A.; Meier, S.; Melle, I.; Meng, F.; Mitchell, P.B.; Montgomery, G.W.; Moran, J.; Morken, G.; Morris, D.W.; Moskvina, V.; Muglia, P.; Mühleisen, T.W.; Muir, W.J.; Müller-Myhsok, B.; Myers, R.M.; Nievergelt, C.M.; Nikolov, I.; Nimgaonkar, V.L.; Nöthen, M.M.; Nurnberger, J.I.; Nwulia, E.A.; O'Dushlaine, C.; Osby, U.; Óskarsson, H.; Owen, M.J.; Petursson, H.; Pickard, B.S.; Porgeirsson, P.; Potash, J.B.; Propping, P.; Purcell, S.M.; Quinn, E.; Raychaudhuri, S.; Rice, J.; Rietschel, M.; Ruderfer, D.; Schalling, M.; Schatzberg, A.F.; Scheftner, W.A.; Schofield, P.R.; Schulze, T.G.; Schumacher, J.; Schwarz, M.M.; Scolnick, E.; Scott, L.J.; Shilling, P.D.; Sigurdsson, E.; Sklar, P.; Smith, E.N.; Stefansson, H.; Stefansson, K.; Steffens, M; Steinberg, S.; Strauss, J.; Strohmaier, J.; Szelinger, S.; Thompson, R.C.; Tozzi, F.; Treutlein, J.; Vincent, J.B.; Watson, S.J.; Wienker, T.F.; Williamson, R.; Witt, S.H.; Wright, A.; Xu, W.; Young, A.H.; Zandi, P.P.; Zhang, P.; Zöllner, S.; Agartz, I.; Albus, M.; Alexander, M.; Amdur, R. L.; Amin, F.; Bitter, I.; Black, D.W.; Børglum, A.D.; Brown, M.A.; Bruggeman, R.; Buccola, N.G.; Cahn, W.; Cantor, R.M.; Carr, V.J.; Catts, S. V.; Choudhury, K.; Cloninger, C. R.; Cormican, P.; Danoy, P. A.; Datta, S.; DeHert, M.; Demontis, D.; Dikeos, D.; Donnelly, P.; Donohoe, G.; Duong, L.; Dwyer, S.; Fanous, A.; Fink-Jensen, A.; Freedman, R.; Freimer, N.B.; Friedl, M.; Georgieva, L.; Giegling, I.; Glenthoj, B.; Godard, S.; Golimbet, V.; de Haan, L.; Hansen, M.; Hansen, T.; Hartmann, A.M.; Henskens, F. A.; Hougaard, D. M.; Ingason, A.; Jablensky, A. V.; Jakobsen, K.D.; Jay, M.; Jönsson, E.G.; Jürgens, G.; Kahn, R.S.; Keller, M.C.; Kendler, K.S.; Kenis, G.; Kenny, E.; Konnerth, H.; Konte, B.; Krabbendam, L.; Krasucki, R.; Lasseter, V. K.; Laurent, C.; Lencz, T.; Lerer, F. B.; Liang, K. Y.; Lieberman, J. A.; Linszen, D.H.; Lönnqvist, J.; Loughland, C. M.; Maclean, A. W.; Maher, B.S.; Malhotra, A.K.; Mallet, J.; Malloy, P.; McGrath, J. J.; McLean, D. E.; Michie, P. T.; Milanova, V.; Mors, O.; Mortensen, P.B.; Mowry, B. J.; Myin-Germeys, I.; Neale, B.; Nertney, D. A.; Nestadt, G.; Nielsen, J.; Nordentoft, M.; Norton, N.; O'Neill, F.; Olincy, A.; Olsen, L.; Ophoff, R.A.; Orntoft, T. F.; van Os, J.; Pantelis, C.; Papadimitriou, G.; Pato, C.N.; Peltonen, L.; Pickard, B.; Pietilainen, O.P.; Pimm, J.; Pulver, A. E.; Puri, V.; Quested, D.; Rasmussen, H.B.; Rethelyi, J.M.; Ribble, R.; Riley, B.P.; Rossin, L.; Ruggeri, M.; Rujescu, D.; Schall, U.; Schwab, S. G.; Scott, R.J.; Silverman, J.M.; Spencer, C. C.; Strange, A.; Strengman, E.; Stroup, T.S.; Suvisaari, J.; Terenius, L.; Thirumalai, S.; Timm, S.; Toncheva, D.; Tosato, S.; van den Oord, E.J.; Veldink, J.; Visscher, P.M.; Walsh, D.; Wang, A. G.; Werge, T.; Wiersma, D.; Wildenauer, D. B.; Williams, H.J.; Williams, N.M.; van Winkel, R.; Wormley, B.; Zammit, S.; Schork, N.J.; Andreassen, O.A.; Dale, A.M.

    2013-01-01

    Recent results indicate that genome-wide association studies (GWAS) have the potential to explain much of the heritability of common complex phenotypes, but methods are lacking to reliably identify the remaining associated single nucleotide polymorphisms (SNPs). We applied stratified False Discovery

  12. Novel SNPs polymorphism of bovine CACNA2D1 gene and their ...

    African Journals Online (AJOL)

    In this study, the bovine CACNA2D1 gene was taken as a candidate gene for mastitis resistance. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the bovine CACNA2D1 gene and evaluate the association of these SNPs with mastitis in cattle. Through DNA sequencing and PCR-RFLP ...

  13. Forensic genetic informativeness of an SNP panel consisting of 19 multi-allelic SNPs.

    Science.gov (United States)

    Gao, Zehua; Chen, Xiaogang; Zhao, Yuancun; Zhao, Xiaohong; Zhang, Shu; Yang, Yiwen; Wang, Yufang; Zhang, Ji

    2018-05-01

    Current research focusing on forensic personal identification, phenotype inference and ancestry information on single-nucleotide polymorphisms (SNPs) has been widely reported. In the present study, we focused on tetra-allelic SNPs in the Chinese Han population. A total of 48 tetra-allelic SNPs were screened out from the Chinese Han population of the 1000 Genomes Database, including Chinese Han in Beijing (CHB) and Chinese Han South (CHS). Considering the forensic genetic requirement for the polymorphisms, only 11 tetra-allelic SNPs with a heterozygosity >0.06 were selected for further multiplex panel construction. In order to meet the demands of personal identification and parentage identification, an additional 8 tri-allelic SNPs were combined into the final multiplex panel. To ensure application in the degraded DNA analysis, all the PCR products were designed to be 87-188 bp. Employing multiple PCR reactions and SNaPshot minisequencing, 511 unrelated Chinese Han individuals from Sichuan were genotyped. The combined match probability (CMP), combined discrimination power (CDP), and cumulative probability of exclusion (CPE) of the panel were 6.07 × 10 -11 , 0.9999999999393 and 0.996764, respectively. Based on the population data retrieved from the 1000 Genomes Project, Fst values between Chinese Han in Sichuan (SCH) and all the populations included in the 1000 Genomes Project were calculated. The results indicated that two SNPs in this panel may contain ancestry information and may be used as markers of forensic biogeographical ancestry inference. Copyright © 2018 Elsevier B.V. All rights reserved.

  14. Comparison between splines and fractional polynomials for multivariable model building with continuous covariates: a simulation study with continuous response.

    Science.gov (United States)

    Binder, Harald; Sauerbrei, Willi; Royston, Patrick

    2013-06-15

    In observational studies, many continuous or categorical covariates may be related to an outcome. Various spline-based procedures or the multivariable fractional polynomial (MFP) procedure can be used to identify important variables and functional forms for continuous covariates. This is the main aim of an explanatory model, as opposed to a model only for prediction. The type of analysis often guides the complexity of the final model. Spline-based procedures and MFP have tuning parameters for choosing the required complexity. To compare model selection approaches, we perform a simulation study in the linear regression context based on a data structure intended to reflect realistic biomedical data. We vary the sample size, variance explained and complexity parameters for model selection. We consider 15 variables. A sample size of 200 (1000) and R(2)  = 0.2 (0.8) is the scenario with the smallest (largest) amount of information. For assessing performance, we consider prediction error, correct and incorrect inclusion of covariates, qualitative measures for judging selected functional forms and further novel criteria. From limited information, a suitable explanatory model cannot be obtained. Prediction performance from all types of models is similar. With a medium amount of information, MFP performs better than splines on several criteria. MFP better recovers simpler functions, whereas splines better recover more complex functions. For a large amount of information and no local structure, MFP and the spline procedures often select similar explanatory models. Copyright © 2012 John Wiley & Sons, Ltd.

  15. Interpolating Spline Curve-Based Perceptual Encryption for 3D Printing Models

    Directory of Open Access Journals (Sweden)

    Giao N. Pham

    2018-02-01

    Full Text Available With the development of 3D printing technology, 3D printing has recently been applied to many areas of life including healthcare and the automotive industry. Due to the benefit of 3D printing, 3D printing models are often attacked by hackers and distributed without agreement from the original providers. Furthermore, certain special models and anti-weapon models in 3D printing must be protected against unauthorized users. Therefore, in order to prevent attacks and illegal copying and to ensure that all access is authorized, 3D printing models should be encrypted before being transmitted and stored. A novel perceptual encryption algorithm for 3D printing models for secure storage and transmission is presented in this paper. A facet of 3D printing model is extracted to interpolate a spline curve of degree 2 in three-dimensional space that is determined by three control points, the curvature coefficients of degree 2, and an interpolating vector. Three control points, the curvature coefficients, and interpolating vector of the spline curve of degree 2 are encrypted by a secret key. The encrypted features of the spline curve are then used to obtain the encrypted 3D printing model by inverse interpolation and geometric distortion. The results of experiments and evaluations prove that the entire 3D triangle model is altered and deformed after the perceptual encryption process. The proposed algorithm is responsive to the various formats of 3D printing models. The results of the perceptual encryption process is superior to those of previous methods. The proposed algorithm also provides a better method and more security than previous methods.

  16. A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groups.

    Science.gov (United States)

    Salas, Antonio; Amigo, Jorge

    2010-05-03

    The high levels of variation characterising the mitochondrial DNA (mtDNA) molecule are due ultimately to its high average mutation rate; moreover, mtDNA variation is deeply structured in different populations and ethnic groups. There is growing interest in selecting a reduced number of mtDNA single nucleotide polymorphisms (mtSNPs) that account for the maximum level of discrimination power in a given population. Applications of the selected mtSNP panel range from anthropologic and medical studies to forensic genetic casework. This study proposes a new simulation-based method that explores the ability of different mtSNP panels to yield the maximum levels of discrimination power. The method explores subsets of mtSNPs of different sizes randomly chosen from a preselected panel of mtSNPs based on frequency. More than 2,000 complete genomes representing three main continental human population groups (Africa, Europe, and Asia) and two admixed populations ("African-Americans" and "Hispanics") were collected from GenBank and the literature, and were used as training sets. Haplotype diversity was measured for each combination of mtSNP and compared with existing mtSNP panels available in the literature. The data indicates that only a reduced number of mtSNPs ranging from six to 22 are needed to account for 95% of the maximum haplotype diversity of a given population sample. However, only a small proportion of the best mtSNPs are shared between populations, indicating that there is not a perfect set of "universal" mtSNPs suitable for all population contexts. The discrimination power provided by these mtSNPs is much higher than the power of the mtSNP panels proposed in the literature to date. Some mtSNP combinations also yield high diversity values in admixed populations. The proposed computational approach for exploring combinations of mtSNPs that optimise the discrimination power of a given set of mtSNPs is more efficient than previous empirical approaches. In contrast to

  17. Studies on interaction of colloidal silver nanoparticles (SNPs) with five different bacterial species.

    Science.gov (United States)

    Khan, S Sudheer; Mukherjee, Amitava; Chandrasekaran, N

    2011-10-01

    Silver nanoparticles (SNPs) are being increasingly used in many consumer products like textile fabrics, cosmetics, washing machines, food and drug products owing to its excellent antimicrobial properties. Here we have studied the adsorption and toxicity of SNPs on bacterial species such as Pseudomonas aeruginosa, Micrococcus luteus, Bacillus subtilis, Bacillus barbaricus and Klebsiella pneumoniae. The influence of zeta potential on the adsorption of SNPs on bacterial cell surface was investigated at acidic, neutral and alkaline pH and with varying salt (NaCl) concentrations (0.05, 0.1, 0.5, 1 and 1.5 M). The survival rate of bacterial species decreased with increase in adsorption of SNPs. Maximum adsorption and toxicity was observed at pH 5, and NaCl concentration of 0.5 M, there by resulting in less toxicity. The zeta potential study suggests that, the adsorption of SNPs on the cell surface was related to electrostatic force of attraction. The equilibrium and kinetics of the adsorption process were also studied. The adsorption equilibrium isotherms fitted well to the Langmuir model. The kinetics of adsorption fitted best to pseudo-first-order. These findings form a basis for interpreting the interaction of nanoparticles with environmental bacterial species. Copyright © 2011 Elsevier B.V. All rights reserved.

  18. First High-Density Linkage Map and Single Nucleotide Polymorphisms Significantly Associated With Traits of Economic Importance in Yellowtail Kingfish Seriola lalandi

    Directory of Open Access Journals (Sweden)

    Nguyen H. Nguyen

    2018-04-01

    Full Text Available The genetic resources available for the commercially important fish species Yellowtail kingfish (YTK (Seriola lalandi are relative sparse. To overcome this, we aimed (1 to develop a linkage map for this species, and (2 to identify markers/variants associated with economically important traits in kingfish (with an emphasis on body weight. Genetic and genomic analyses were conducted using 13,898 single nucleotide polymorphisms (SNPs generated from a new high-throughput genotyping by sequencing platform, Diversity Arrays Technology (DArTseqTM in a pedigreed population comprising 752 animals. The linkage analysis enabled to map about 4,000 markers to 24 linkage groups (LGs, with an average density of 3.4 SNPs per cM. The linkage map was integrated into a genome-wide association study (GWAS and identified six variants/SNPs associated with body weight (P < 5e-8 when a multi-locus mixed model was used. Two out of the six significant markers were mapped to LGs 17 and 23, and collectively they explained 5.8% of the total genetic variance. It is concluded that the newly developed linkage map and the significantly associated markers with body weight provide fundamental information to characterize genetic architecture of growth-related traits in this population of YTK S. lalandi.

  19. First High-Density Linkage Map and Single Nucleotide Polymorphisms Significantly Associated With Traits of Economic Importance in Yellowtail Kingfish Seriola lalandi.

    Science.gov (United States)

    Nguyen, Nguyen H; Rastas, Pasi M A; Premachandra, H K A; Knibb, Wayne

    2018-01-01

    The genetic resources available for the commercially important fish species Yellowtail kingfish (YTK) ( Seriola lalandi) are relative sparse. To overcome this, we aimed (1) to develop a linkage map for this species, and (2) to identify markers/variants associated with economically important traits in kingfish (with an emphasis on body weight). Genetic and genomic analyses were conducted using 13,898 single nucleotide polymorphisms (SNPs) generated from a new high-throughput genotyping by sequencing platform, Diversity Arrays Technology (DArTseq TM ) in a pedigreed population comprising 752 animals. The linkage analysis enabled to map about 4,000 markers to 24 linkage groups (LGs), with an average density of 3.4 SNPs per cM. The linkage map was integrated into a genome-wide association study (GWAS) and identified six variants/SNPs associated with body weight ( P 5e -8 ) when a multi-locus mixed model was used. Two out of the six significant markers were mapped to LGs 17 and 23, and collectively they explained 5.8% of the total genetic variance. It is concluded that the newly developed linkage map and the significantly associated markers with body weight provide fundamental information to characterize genetic architecture of growth-related traits in this population of YTK S. lalandi .

  20. A novel knot selection method for the error-bounded B-spline curve fitting of sampling points in the measuring process

    International Nuclear Information System (INIS)

    Liang, Fusheng; Zhao, Ji; Ji, Shijun; Zhang, Bing; Fan, Cheng

    2017-01-01

    The B-spline curve has been widely used in the reconstruction of measurement data. The error-bounded sampling points reconstruction can be achieved by the knot addition method (KAM) based B-spline curve fitting. In KAM, the selection pattern of initial knot vector has been associated with the ultimate necessary number of knots. This paper provides a novel initial knots selection method to condense the knot vector required for the error-bounded B-spline curve fitting. The initial knots are determined by the distribution of features which include the chord length (arc length) and bending degree (curvature) contained in the discrete sampling points. Firstly, the sampling points are fitted into an approximate B-spline curve Gs with intensively uniform knot vector to substitute the description of the feature of the sampling points. The feature integral of Gs is built as a monotone increasing function in an analytic form. Then, the initial knots are selected according to the constant increment of the feature integral. After that, an iterative knot insertion (IKI) process starting from the initial knots is introduced to improve the fitting precision, and the ultimate knot vector for the error-bounded B-spline curve fitting is achieved. Lastly, two simulations and the measurement experiment are provided, and the results indicate that the proposed knot selection method can reduce the number of ultimate knots available. (paper)

  1. Genetic polymorphisms in AS3MT and arsenic metabolism in residents of the Red River Delta, Vietnam

    International Nuclear Information System (INIS)

    Agusa, Tetsuro; Iwata, Hisato; Fujihara, Junko; Kunito, Takashi; Takeshita, Haruo; Minh, Tu Binh; Trang, Pham Thi Kim; Viet, Pham Hung; Tanabe, Shinsuke

    2009-01-01

    To elucidate the role of genetic factors in arsenic (As) metabolism, we studied associations of single nucleotide polymorphisms (SNPs) in As (+ 3 oxidation state) methyltransferase (AS3MT) with the As concentrations in hair and urine, and urinary As profile in residents in the Red River Delta, Vietnam. Concentrations of total As in groundwater were 0.7-502 μg/l. Total As levels in groundwater drastically decreased by using sand filter, indicating that the filter could be effective to remove As from raw groundwater. Concentrations of inorganic As (IAs) in urine and total As in hair of males were higher than those of females. A significant positive correlation between monomethylarsonic acid (MMA)/IAs and age in females indicates that older females have higher methylation capacity from IAs to MMA. Body mass index negatively correlated with urinary As concentrations in males. Homozygote for SNPs 4602AA, 35991GG, and 37853GG, which showed strong linkage disequilibrium (LD), had higher percentage (%) of dimethylarsinic acid (DMA) in urine. SNPs 4740 and 12590 had strong LD and associated with urinary %DMA. Although SNPs 6144, 12390, 14215, and 35587 comprised LD cluster, homozygotes in SNPs 12390GG and 35587CC had lower DMA/MMA in urine, suggesting low methylation capacity from MMA to DMA in homo types for these SNPs. SNPs 5913 and 8973 correlated with %MMA and %DMA, respectively. Heterozygote for SNP 14458TC had higher MMA/IAs in urine than TT homozygote, indicating that the heterozygote may have stronger methylation ability of IAs. To our knowledge, this is the first study on the association of genetic factors with As metabolism in Vietnamese.

  2. Selected Aspects of Wear Affecting Keyed Joints and Spline Connections During Operation of Aircrafts

    Directory of Open Access Journals (Sweden)

    Gębura Andrzej

    2014-12-01

    Full Text Available The paper deals with selected deficiencies of spline connections, such as angular or parallel misalignment (eccentricity and excessive play. It is emphasized how important these deficiencies are for smooth operation of the entire driving units. The aim of the study is to provide a kind of a reference list with such deficiencies with visual symptoms of wear, specification of mechanical measurements for mating surfaces, mathematical description of waveforms for dynamic variability of motion in such connections and visualizations of the connection behaviour acquired with the use of the FAM-C and FDM-A. Attention is paid to hazards to flight safety when excessively worn spline connections are operated for long periods of time

  3. Correction of Sample-Time Error for Time-Interleaved Sampling System Using Cubic Spline Interpolation

    Directory of Open Access Journals (Sweden)

    Qin Guo-jie

    2014-08-01

    Full Text Available Sample-time errors can greatly degrade the dynamic range of a time-interleaved sampling system. In this paper, a novel correction technique employing a cubic spline interpolation is proposed for inter-channel sample-time error compensation. The cubic spline interpolation compensation filter is developed in the form of a finite-impulse response (FIR filter structure. The correction method of the interpolation compensation filter coefficients is deduced. A 4GS/s two-channel, time-interleaved ADC prototype system has been implemented to evaluate the performance of the technique. The experimental results showed that the correction technique is effective to attenuate the spurious spurs and improve the dynamic performance of the system.

  4. EvoSNP-DB: A database of genetic diversity in East Asian populations.

    Science.gov (United States)

    Kim, Young Uk; Kim, Young Jin; Lee, Jong-Young; Park, Kiejung

    2013-08-01

    Genome-wide association studies (GWAS) have become popular as an approach for the identification of large numbers of phenotype-associated variants. However, differences in genetic architecture and environmental factors mean that the effect of variants can vary across populations. Understanding population genetic diversity is valuable for the investigation of possible population specific and independent effects of variants. EvoSNP-DB aims to provide information regarding genetic diversity among East Asian populations, including Chinese, Japanese, and Korean. Non-redundant SNPs (1.6 million) were genotyped in 54 Korean trios (162 samples) and were compared with 4 million SNPs from HapMap phase II populations. EvoSNP-DB provides two user interfaces for data query and visualization, and integrates scores of genetic diversity (Fst and VarLD) at the level of SNPs, genes, and chromosome regions. EvoSNP-DB is a web-based application that allows users to navigate and visualize measurements of population genetic differences in an interactive manner, and is available online at [http://biomi.cdc.go.kr/EvoSNP/].

  5. Trajectory control of an articulated robot with a parallel drive arm based on splines under tension

    Science.gov (United States)

    Yi, Seung-Jong

    Today's industrial robots controlled by mini/micro computers are basically simple positioning devices. The positioning accuracy depends on the mathematical description of the robot configuration to place the end-effector at the desired position and orientation within the workspace and on following the specified path which requires the trajectory planner. In addition, the consideration of joint velocity, acceleration, and jerk trajectories are essential for trajectory planning of industrial robots to obtain smooth operation. The newly designed 6 DOF articulated robot with a parallel drive arm mechanism which permits the joint actuators to be placed in the same horizontal line to reduce the arm inertia and to increase load capacity and stiffness is selected. First, the forward kinematic and inverse kinematic problems are examined. The forward kinematic equations are successfully derived based on Denavit-Hartenberg notation with independent joint angle constraints. The inverse kinematic problems are solved using the arm-wrist partitioned approach with independent joint angle constraints. Three types of curve fitting methods used in trajectory planning, i.e., certain degree polynomial functions, cubic spline functions, and cubic spline functions under tension, are compared to select the best possible method to satisfy both smooth joint trajectories and positioning accuracy for a robot trajectory planner. Cubic spline functions under tension is the method selected for the new trajectory planner. This method is implemented for a 6 DOF articulated robot with a parallel drive arm mechanism to improve the smoothness of the joint trajectories and the positioning accuracy of the manipulator. Also, this approach is compared with existing trajectory planners, 4-3-4 polynomials and cubic spline functions, via circular arc motion simulations. The new trajectory planner using cubic spline functions under tension is implemented into the microprocessor based robot controller and

  6. Investigation of confined hydrogen atom in spherical cavity, using B-splines basis set

    Directory of Open Access Journals (Sweden)

    M Barezi

    2011-03-01

    Full Text Available Studying confined quantum systems (CQS is very important in nano technology. One of the basic CQS is a hydrogen atom confined in spherical cavity. In this article, eigenenergies and eigenfunctions of hydrogen atom in spherical cavity are calculated, using linear variational method. B-splines are used as basis functions, which can easily construct the trial wave functions with appropriate boundary conditions. The main characteristics of B-spline are its high localization and its flexibility. Besides, these functions have numerical stability and are able to spend high volume of calculation with good accuracy. The energy levels as function of cavity radius are analyzed. To check the validity and efficiency of the proposed method, extensive convergence test of eigenenergies in different cavity sizes has been carried out.

  7. Genotypic and allelic variability in CYP19A1 among populations of African and European ancestry.

    Directory of Open Access Journals (Sweden)

    Athena Starlard-Davenport

    Full Text Available CYP19A1 facilitates the bioconversion of estrogens from androgens. CYP19A1 intron single nucleotide polymorphisms (SNPs may alter mRNA splicing, resulting in altered CYP19A1 activity, and potentially influencing disease susceptibility. Genetic studies of CYP19A1 SNPs have been well documented in populations of European ancestry; however, studies in populations of African ancestry are limited. In the present study, ten 'candidate' intronic SNPs in CYP19A1 from 125 African Americans (AA and 277 European Americans (EA were genotyped and their frequencies compared. Allele frequencies were also compared with HapMap and ASW 1000 Genomes populations. We observed significant differences in the minor allele frequencies between AA and EA in six of the ten SNPs including rs10459592 (p<0.0001, rs12908960 (p<0.0001, rs1902584 (p = 0.016, rs2470144 (p<0.0001, rs1961177 (p<0.0001, and rs6493497 (p = 0.003. While there were no significant differences in allele frequencies between EA and CEU in the HapMap population, a 1.2- to 19-fold difference in allele frequency for rs10459592 (p = 0.004, rs12908960 (p = 0.0006, rs1902584 (p<0.0001, rs2470144 (p = 0.0006, rs1961177 (p<0.0001, and rs6493497 (p = 0.0092 was observed between AA and the Yoruba (YRI population. Linkage disequilibrium (LD blocks and haplotype clusters that is unique to the EA population but not AA was also observed. In summary, we demonstrate that differences in the allele frequencies of CYP19A1 intron SNPs are not consistent between populations of African and European ancestry. Thus, investigations into whether CYP19A1 intron SNPs contribute to variations in cancer incidence, outcomes and pharmacological response seen in populations of different ancestry may prove beneficial.

  8. The Middle School Experience: Effects on the Math and Science Achievement of Adolescents with LD.

    Science.gov (United States)

    Anderman, Eric M.

    1998-01-01

    Using data from the National Education Longitudinal Study and applying hierarchical linear modeling, this study found a strong gap in achievement in math and science between adolescents with and without learning disabilities (LD). The gap was reduced for LD adolescents who did not make a school transition until at least ninth grade. (DB)

  9. Construction of an almond linkage map in an Australian population Nonpareil × Lauranne

    Science.gov (United States)

    2010-01-01

    Background Despite a high genetic similarity to peach, almonds (Prunus dulcis) have a fleshless fruit and edible kernel, produced as a crop for human consumption. While the release of peach genome v1.0 provides an excellent opportunity for almond genetic and genomic studies, well-assessed segregating populations and the respective saturated genetic linkage maps lay the foundation for such studies to be completed in almond. Results Using an almond intraspecific cross between 'Nonpareil' and 'Lauranne' (N × L), we constructed a moderately saturated map with SSRs, SNPs, ISSRs and RAPDs. The N × L map covered 591.4 cM of the genome with 157 loci. The average marker distance of the map was 4.0 cM. The map displayed high synteny and colinearity with the Prunus T × E reference map in all eight linkage groups (G1-G8). The positions of 14 mapped gene-anchored SNPs corresponded approximately with the positions of homologous sequences in the peach genome v1.0. Analysis of Mendelian segregation ratios showed that 17.9% of markers had significantly skewed genotype ratios at the level of P almond map, which is highly syntenic and collinear with the Prunus reference map and peach genome V1.0. Therefore, the well-assessed almond population reported here can be used to investigate the traits of interest under Australian growing conditions, and provides more information on the almond genome for the international community. PMID:20932335

  10. La obtención y proyección de tablas de mortalidad empleando curvas. Spline

    Directory of Open Access Journals (Sweden)

    Alejandro MINA-VALDÉS

    2011-01-01

    Full Text Available Una de las herramientas del análisis numérico es el uso de polinomios de n-ésimo orden para interpolar entre n + 1 puntos, teniéndose casos en donde estas funciones polinómicas pueden llevar a resultados erróneos. Una alternativa es la de aplicar polinomios de orden inferior a subconjuntos de datos. Estos polinomios conectados se llaman funciones de interpolación segmentaria (spline functions. En este artículo se presenta la herramienta que el análisis numérico proporciona como instrumento técnico necesario para llevar a cabo todos los procedimientos matemáticos existentes con base a algoritmos que permitan su simulación o cálculo, en especial, las funciones splines definidas a trozos (por tramos, con interpolación mediante ellas, dando lugar a el ajuste de curvas spline con base en la serie de sobrevivientes lx de una tabla abreviada de mortalidad mexicana, con el fin de desagregarla por edad desplegada, respetando las concavidades que por el efecto de la mortalidad en las primeras edades y en las siguientes se tienen en la experiencia mexicana. También empleando las curvas splines se presentan las simulaciones que permiten obtener escenarios futuros de las series de sobrevivientes lx, que dan lugar a las proyecciones de la mortalidad mexicana para los años 2010-2050, las que generan las tablas completas de mortalidad para hombres y mujeres de dicho periodo, resaltando las diferencias entre sexos y edades de sus probabilidades de supervivencia y las ganancias en las esperanzas de vida.

  11. Development of LD pumped 10 J x 10 Hz Nd: Glass slab laser system

    International Nuclear Information System (INIS)

    Yamanaka, Masanobu; Kanabe, Tadashi; Matsui, Hideki

    2000-01-01

    As a first step of a driver development for the inertial fusion energy, we are developing a diode-pumped zig-zag Nd: glass slab laser amplifier system which can generate an output of 10 J per pulse at 1053 nm in 10 Hz operation. The water-cooled zig-zag Nd: glass slab is pumped from both sides by 803-nm AlGaAs laser-diode (LD) module; each LD module has an emitting area of 420 mm x 10 mm and two LD modules generated in total 200 kW peak power with 2.5 kW/cm 2 peak intensity at 10 Hz repetition rate. We have obtained in a preliminary experiment a 8.5 J output energy at 0.5 Hz with beam quality of 2 times diffraction limited far-field pattern. (author)

  12. Joint surface modeling with thin-plate splines.

    Science.gov (United States)

    Boyd, S K; Ronsky, J L; Lichti, D D; Salkauskas, K; Chapman, M A; Salkauskas, D

    1999-10-01

    Mathematical joint surface models based on experimentally determined data points can be used to investigate joint characteristics such as curvature, congruency, cartilage thickness, joint contact areas, as well as to provide geometric information well suited for finite element analysis. Commonly, surface modeling methods are based on B-splines, which involve tensor products. These methods have had success; however, they are limited due to the complex organizational aspect of working with surface patches, and modeling unordered, scattered experimental data points. An alternative method for mathematical joint surface modeling is presented based on the thin-plate spline (TPS). It has the advantage that it does not involve surface patches, and can model scattered data points without experimental data preparation. An analytical surface was developed and modeled with the TPS to quantify its interpolating and smoothing characteristics. Some limitations of the TPS include discontinuity of curvature at exactly the experimental surface data points, and numerical problems dealing with data sets in excess of 2000 points. However, suggestions for overcoming these limitations are presented. Testing the TPS with real experimental data, the patellofemoral joint of a cat was measured with multistation digital photogrammetry and modeled using the TPS to determine cartilage thicknesses and surface curvature. The cartilage thickness distribution ranged between 100 to 550 microns on the patella, and 100 to 300 microns on the femur. It was found that the TPS was an effective tool for modeling joint surfaces because no preparation of the experimental data points was necessary, and the resulting unique function representing the entire surface does not involve surface patches. A detailed algorithm is presented for implementation of the TPS.

  13. Ethnicity and skeletal Class III morphology: a pubertal growth analysis using thin-plate spline analysis.

    Science.gov (United States)

    Alkhamrah, B; Terada, K; Yamaki, M; Ali, I M; Hanada, K

    2001-01-01

    A longitudinal retrospective study using thin-plate spline analysis was used to investigate skeletal Class III etiology in Japanese female adolescents. Headfilms of 40 subjects were chosen from the archives of the Orthodontic department at Niigata University Dental Hospital, and were traced at IIIB and IVA Hellman dental ages. Twenty-eight homologous landmarks, representing hard and soft tissue, were digitized. These were used to reproduce a consensus for the profilogram, craniomaxillary complex, mandible, and soft tissue for each age and skeletal group. Generalized least-square analysis revealed a significant shape difference between age-matched groups (P spline and partial warps (PW)3 and 2 showed a maxillary retrusion at stage IIIB opposite an acute cranial base at stage IVA. Mandibular total spline and PW4, 5 showed changes affecting most landmarks and their spatial interrelationship, especially a stretch along the articulare-pogonion axis. In soft tissue analysis, PW8 showed large and local changes which paralleled the underlying hard tissue components. Allometry of the mandible and anisotropy of the cranial base, the maxilla, and the mandible asserted the complexity of craniofacial growth and the difficulty of predicting its outcome.

  14. RANCANG BANGUN PROGRAM PENGEDITAN KURVA B-SPLINE MULTIRESOLUSI BERBASIS WAVELETS

    Directory of Open Access Journals (Sweden)

    Nanik Suciati

    2002-07-01

    Full Text Available Penelitian ini menyusun representasi multiresolusi untuk kurva B-spline kubik yang menginterpolasi titik-titik ujung dengan basis wavelets. Representasi multiresolusi ini digunakan untuk mendukung beberapa tipe pengeditan kurva, yaitu penghalusan kurva dengan tingkat resolusi kontinyu untuk menghilangkan detail-detail kurva yang tidak diinginkan, pengeditan bentuk keseluruhan kurva dengan tetap mempertahankan detaildetailnya, perubahan detail-detail kurva tanpa mempengaruhi bentuk keseluruhannya, dan pengeditan satubagian tertentu dari kurva melalui manipulasi secara langsung terhadap titik-titik kontrolnya. Untuk menguji kemampuan representasi multiresolusi dalam mendukung empat tipe manipulasi kurva tersebut, disusun program pengeditan kurva dengan menggunakan bahasa pemrograman Visual C++ pada komputer Pentium 133 MHz, memori 16 Mbyte, sistem operasi Windows 95, lingkungan pengembangan Microsoft DevelopmentStudio 97 dan pustaka Microsoft Foundation Class. Dari hasil uji coba program diketahui bahwa representasi multiresolusi memberikan dukungan yang sangat baik terhadap tipe-tipe pengeditan seperti yang disebutkan di atas. Representasi multiresolusi tidak membutuhkan memori penyimpan ekstra selain dari yang digunakan untuk menyimpan titik kontrol. Dari hasil uji coba program menggunakan ratusan titik kontrol, algoritma berjalan cukup cepat dan memadai berkaitan dengan tuntutan komunikasi interaktif antara user dan program.Kata kunci: B-Spline, Wavelet, Multiresolusi

  15. Hybrid B-Spline Collocation Method for Solving the Generalized Burgers-Fisher and Burgers-Huxley Equations

    Directory of Open Access Journals (Sweden)

    Imtiaz Wasim

    2018-01-01

    Full Text Available In this study, we introduce a new numerical technique for solving nonlinear generalized Burgers-Fisher and Burgers-Huxley equations using hybrid B-spline collocation method. This technique is based on usual finite difference scheme and Crank-Nicolson method which are used to discretize the time derivative and spatial derivatives, respectively. Furthermore, hybrid B-spline function is utilized as interpolating functions in spatial dimension. The scheme is verified unconditionally stable using the Von Neumann (Fourier method. Several test problems are considered to check the accuracy of the proposed scheme. The numerical results are in good agreement with known exact solutions and the existing schemes in literature.

  16. A chord error conforming tool path B-spline fitting method for NC machining based on energy minimization and LSPIA

    Directory of Open Access Journals (Sweden)

    Shanshan He

    2015-10-01

    Full Text Available Piecewise linear (G01-based tool paths generated by CAM systems lack G1 and G2 continuity. The discontinuity causes vibration and unnecessary hesitation during machining. To ensure efficient high-speed machining, a method to improve the continuity of the tool paths is required, such as B-spline fitting that approximates G01 paths with B-spline curves. Conventional B-spline fitting approaches cannot be directly used for tool path B-spline fitting, because they have shortages such as numerical instability, lack of chord error constraint, and lack of assurance of a usable result. Progressive and Iterative Approximation for Least Squares (LSPIA is an efficient method for data fitting that solves the numerical instability problem. However, it does not consider chord errors and needs more work to ensure ironclad results for commercial applications. In this paper, we use LSPIA method incorporating Energy term (ELSPIA to avoid the numerical instability, and lower chord errors by using stretching energy term. We implement several algorithm improvements, including (1 an improved technique for initial control point determination over Dominant Point Method, (2 an algorithm that updates foot point parameters as needed, (3 analysis of the degrees of freedom of control points to insert new control points only when needed, (4 chord error refinement using a similar ELSPIA method with the above enhancements. The proposed approach can generate a shape-preserving B-spline curve. Experiments with data analysis and machining tests are presented for verification of quality and efficiency. Comparisons with other known solutions are included to evaluate the worthiness of the proposed solution.

  17. Association between SNPs within candidate genes and compounds related to boar taint and reproduction

    DEFF Research Database (Denmark)

    Moe, Maren; Lien, Sigbjørn; Aasmundstad, Torunn

    2009-01-01

    BACKGROUND: Boar taint is an unpleasant odour and flavour of the meat from some uncastrated male pigs primarily caused by elevated levels of androstenone and skatole in adipose tissue. Androstenone is produced in the same biochemical pathway as testosterone and estrogens, which represents...... of this study was to detect SNPs in boar taint candidate genes and to perform association studies for both single SNPs and haplotypes with levels of boar taint compounds and phenotypes related to reproduction. RESULTS: An association study involving 275 SNPs in 121 genes and compounds related to boar taint...... and reproduction were carried out in Duroc and Norwegian Landrace boars. Phenotypes investigated were levels of androstenone, skatole and indole in adipose tissue, levels of androstenone, testosterone, estrone sulphate and 17beta-estradiol in plasma, and length of bulbo urethralis gland. The SNPs were genotyped...

  18. Cowpea–Soybean Synteny Clarified through an Improved Genetic Map

    Directory of Open Access Journals (Sweden)

    Mitchell R. Lucas

    2011-11-01

    Full Text Available Linkage mapping is relevant to modern plant biology and provides a framework for downstream analyses including quantitative trait loci identification, map-based cloning, assessment of diversity, association mapping, and molecular breeding. Here, we report a consensus genetic map of cowpea [ (L. Walp.] and synteny to other legumes based on expressed sequence tag (EST-derived single nucleotide polymorphisms (SNPs. In total, 1293 individuals representing 13 mapping populations were genotyped using an Illumina 1536 GoldenGate Assay. A consensus map containing 1107 EST-derived SNP markers (856 bins on 11 linkage groups (680 cM was constructed from 13 population-specific maps. This effort combined six new population-specific maps and seven revised population-specific maps to construct an improved consensus map with 33% more bins, 19% more markers, and improved marker order when compared to the previous cowpea SNP consensus map. Comparative and whole genome visualizations are presented as a framework for discussing map quality and synteny with soybean [ (L. Merr.].

  19. Sequential bayes estimation algorithm with cubic splines on uniform meshes

    International Nuclear Information System (INIS)

    Hossfeld, F.; Mika, K.; Plesser-Walk, E.

    1975-11-01

    After outlining the principles of some recent developments in parameter estimation, a sequential numerical algorithm for generalized curve-fitting applications is presented combining results from statistical estimation concepts and spline analysis. Due to its recursive nature, the algorithm can be used most efficiently in online experimentation. Using computer-sumulated and experimental data, the efficiency and the flexibility of this sequential estimation procedure is extensively demonstrated. (orig.) [de

  20. Spline Collocation Method for Nonlinear Multi-Term Fractional Differential Equation

    OpenAIRE

    Choe, Hui-Chol; Kang, Yong-Suk

    2013-01-01

    We study an approximation method to solve nonlinear multi-term fractional differential equations with initial conditions or boundary conditions. First, we transform the nonlinear multi-term fractional differential equations with initial conditions and boundary conditions to nonlinear fractional integral equations and consider the relations between them. We present a Spline Collocation Method and prove the existence, uniqueness and convergence of approximate solution as well as error estimatio...

  1. TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients

    International Nuclear Information System (INIS)

    Fachal, Laura; Gómez-Caamaño, Antonio; Sánchez-García, Manuel; Carballo, Ana; Peleteiro, Paula; Lobato-Busto, Ramón; Carracedo, Ángel; Vega, Ana

    2012-01-01

    Background and purpose: We have performed a case-control study in 413 prostate cancer patients to test for association between TGFβ1 and the development of late normal-tissue toxicity among prostate cancer patients treated with three-dimensional conformational radiotherapy (3D-CRT) Materials and methods: Late gastrointestinal and genitourinary toxicities were assessed for at least two years after radiotherapy in 413 patients according to CTCAEvs3 scores. Codominant genotypic tests and haplotypic analyses were undertaken to evaluate the correlation between TGFβ1 SNPs rs1800469, rs1800470 and rs1800472 and radio-induced toxicity. Results: Neither the SNPs nor the haplotypes were found to be associated with the risk of late toxicity. Conclusions: We were able to exclude up to a 2-fold increase in the risk of developing late gastrointestinal and genitourinary radio-induced toxicity due to the TGFβ1 SNPs rs1800469 and rs1800470, as well as the two most frequent TGFβ1 haplotypes.

  2. Biological effects of nuclear war: Acute effects of radiation; the LD-50 value

    International Nuclear Information System (INIS)

    Ohkita, T.; Rotblat, J.

    1987-01-01

    Recent surveys carried out in Japan in connection with the reassessment of the dosimetry for long-term effects provided an opportunity for another look at the acute effects of radiation and a recalculation of the LD-50 value. The recalculation gave an LD-50 value which is two to three times lower than had been assumed before. It means that in a nuclear war the number of fatalities due to exposure to radiation would be considerably higher than thought hitherto. 11 refs, 5 figs, 2 tabs

  3. Design of a Multi-layer Lane-Level Map for Vehicle Route Planning

    Directory of Open Access Journals (Sweden)

    Liu Chaoran

    2017-01-01

    Full Text Available With the development of intelligent transportation system, there occurs further demand for high precision localization and route planning, and simultaneously the traditional road-level map fails to meet with this requirement, by which this paper is motivated. In this paper, t he three-layer lane-level map architecture for vehicle path guidance is established, and the mathematical models of road-level layer, intermediate layer and lane-level layer are designed considering efficiency and precision. The geometric model of the lane-level layer of the map is characterized by Cubic Hermite Spline for continuity. A method of generating the lane geometry with fixed and variable control points is proposed, which can effectively ensure the accuracy with limited num ber of control points. In experimental part, a multi-layer map of an intersection is built to validate the map model, and an example of a local map was generated with the lane-level geometry.

  4. The more from East-Asian, the better: risk prediction of colorectal cancer risk by GWAS-identified SNPs among Japanese.

    Science.gov (United States)

    Abe, Makiko; Ito, Hidemi; Oze, Isao; Nomura, Masatoshi; Ogawa, Yoshihiro; Matsuo, Keitaro

    2017-12-01

    Little is known about the difference of genetic predisposition for CRC between ethnicities; however, many genetic traits common to colorectal cancer have been identified. This study investigated whether more SNPs identified in GWAS in East Asian population could improve the risk prediction of Japanese and explored possible application of genetic risk groups as an instrument of the risk communication. 558 Patients histologically verified colorectal cancer and 1116 first-visit outpatients were included for derivation study, and 547 cases and 547 controls were for replication study. Among each population, we evaluated prediction models for the risk of CRC that combined the genetic risk group based on SNPs from GWASs in European-population and a similarly developed model adding SNPs from GWASs in East Asian-population. We examined whether adding East Asian-specific SNPs would improve the discrimination. Six SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) from 23 SNPs by European-based GWAS and five SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) among ten SNPs by Asian-based GWAS were selected in CRC risk prediction model. Compared with a 6-SNP-based model, an 11-SNP model including Asian GWAS-SNPs showed improved discrimination capacity in Receiver operator characteristic analysis. A model with 11 SNPs resulted in statistically significant improvement in both derivation (P = 0.0039) and replication studies (P = 0.0018) compared with six SNP model. We estimated cumulative risk of CRC by using genetic risk group based on 11 SNPs and found that the cumulative risk at age 80 is approximately 13% in the high-risk group while 6% in the low-risk group. We constructed a more efficient CRC risk prediction model with 11 SNPs including newly identified East Asian-based GWAS SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279). Risk grouping based on 11 SNPs depicted lifetime difference of CRC risk. This might be useful for

  5. A High-Density Genetic Linkage Map and QTL Fine Mapping for Body Weight in Crucian Carp (Carassius auratus Using 2b-RAD Sequencing

    Directory of Open Access Journals (Sweden)

    Haiyang Liu

    2017-08-01

    Full Text Available A high-resolution genetic linkage map is essential for a wide range of genetics and genomics studies such as comparative genomics analysis and QTL fine mapping. Crucian carp (Carassius auratus is widely distributed in Eurasia, and is an important aquaculture fish worldwide. In this study, a high-density genetic linkage map was constructed for crucian carp using 2b-RAD technology. The consensus map contains 8487 SNP markers, assigning to 50 linkage groups (LGs and spanning 3762.88 cM, with an average marker interval of 0.44 cM and genome coverage of 98.8%. The female map had 4410 SNPs, and spanned 3500.42 cM (0.79 cM/marker, while the male map had 4625 SNPs and spanned 3346.33 cM (0.72 cM/marker. The average recombination ratio of female to male was 2.13:1, and significant male-biased recombination suppressions were observed in LG47 and LG49. Comparative genomics analysis revealed a clear 2:1 syntenic relationship between crucian carp LGs and chromosomes of zebrafish and grass carp, and a 1:1 correspondence, but extensive chromosomal rearrangement, between crucian carp and common carp, providing evidence that crucian carp has experienced a fourth round of whole genome duplication (4R-WGD. Eight chromosome-wide QTL for body weight at 2 months after hatch were detected on five LGs, explaining 10.1–13.2% of the phenotypic variations. Potential candidate growth-related genes, such as an EGF-like domain and TGF-β, were identified within the QTL intervals. This high-density genetic map and QTL analysis supplies a basis for genome evolutionary studies in cyprinid fishes, genome assembly, and QTL fine mapping for complex traits in crucian carp.

  6. Approximation and geomatric modeling with simplex B-splines associates with irregular triangular

    NARCIS (Netherlands)

    Auerbach, S.; Gmelig Meyling, R.H.J.; Neamtu, M.; Neamtu, M.; Schaeben, H.

    1991-01-01

    Bivariate quadratic simplical B-splines defined by their corresponding set of knots derived from a (suboptimal) constrained Delaunay triangulation of the domain are employed to obtain a C1-smooth surface. The generation of triangle vertices is adjusted to the areal distribution of the data in the

  7. Optimization and parallelization of B-spline based orbital evaluations in QMC on multi/many-core shared memory processors

    OpenAIRE

    Mathuriya, Amrita; Luo, Ye; Benali, Anouar; Shulenburger, Luke; Kim, Jeongnim

    2016-01-01

    B-spline based orbital representations are widely used in Quantum Monte Carlo (QMC) simulations of solids, historically taking as much as 50% of the total run time. Random accesses to a large four-dimensional array make it challenging to efficiently utilize caches and wide vector units of modern CPUs. We present node-level optimizations of B-spline evaluations on multi/many-core shared memory processors. To increase SIMD efficiency and bandwidth utilization, we first apply data layout transfo...

  8. A graph-based method for fitting planar B-spline curves with intersections

    Directory of Open Access Journals (Sweden)

    Pengbo Bo

    2016-01-01

    Full Text Available The problem of fitting B-spline curves to planar point clouds is studied in this paper. A novel method is proposed to deal with the most challenging case where multiple intersecting curves or curves with self-intersection are necessary for shape representation. A method based on Delauney Triangulation of data points is developed to identify connected components which is also capable of removing outliers. A skeleton representation is utilized to represent the topological structure which is further used to create a weighted graph for deciding the merging of curve segments. Different to existing approaches which utilize local shape information near intersections, our method considers shape characteristics of curve segments in a larger scope and is thus capable of giving more satisfactory results. By fitting each group of data points with a B-spline curve, we solve the problems of curve structure reconstruction from point clouds, as well as the vectorization of simple line drawing images by drawing lines reconstruction.

  9. Chromosome 17: association of a large inversion polymorphism with corticosteroid response in asthma.

    Science.gov (United States)

    Tantisira, Kelan G; Lazarus, Ross; Litonjua, Augusto A; Klanderman, Barbara; Weiss, Scott T

    2008-08-01

    A 900-kb inversion exists within a large region of conserved linkage disequilibrium (LD) on chromosome 17. CRHR1 is located within the inversion region and associated with inhaled corticosteroid response in asthma. We hypothesized that CRHR1 variants are in LD with the inversion, supporting a potential role for natural selection in the genetic response to corticosteroids. We genotyped six single nucleotide polymorphisms (SNPs) spanning chromosome 17: 40,410,565-42,372,240, including four SNPs defining inversion status. Similar allele frequencies and strong LD were noted between the inversion and a CRHR1 SNP previously associated with lung function response to inhaled corticosteroids. Each inversion-defining SNP was strongly associated with inhaled corticosteroid response in adult asthma (P values 0.002-0.005). The CRHR1 response to inhaled corticosteroids may thus be explained by natural selection resulting from inversion status or by long-range LD with another gene. Additional pharmacogenetic investigations into regions of chromosomal diversity, including copy number variation and inversions, are warranted.

  10. An in vitro based investigation of the cytotoxic effect of water extracts of the Chinese herbal remedy LD on cancer cells

    Directory of Open Access Journals (Sweden)

    Jones Lucy A

    2009-09-01

    Full Text Available Abstract Background Long Dan Xie Gan Wan (LD, a Chinese herbal remedy formulation, is traditionally used to treat a range of conditions, including gall bladder diseases, hepatitis, hyperthyroidism, migraines but it is not used for the management or treatment of cancer. However some of its herbal constituents, specifically Radix bupleuri, Radix scutellariae and Rhizoma alismatis have been shown to inhibit the growth of cancer cells. Thus, the aim of the study was to investigate the impact of LD on cancer cells in vitro. Methods HL60 and HT29 cancer cell lines were exposed to water extracts of LD (1:10, 1:50, 1:100 and/or 1:1000 prepared from a 3 mg/30 ml stock and for both cell lines growth, apoptotic induction, alterations in cell cycle characteristics and genotoxicity were investigated. The specificity of the action of LD on these cancer cell lines was also investigated by determining its effect on human peripheral blood lymphocytes. Preliminary chemical analysis was carried out to identify cytotoxic constituents of LD using HPLC and LCMS. Results LD was significantly cytotoxic to, and induced apoptosis in, both cell lines. Apoptotic induction appeared to be cell cycle independent at all concentrations of LD used (1:10, 1:50 and 1:100 for the HL60 cell lines and at 1:10 for the HT29 cell line. At 1:50 and 1:100 apoptotic induction by LD appeared to be cell cycle dependent. LD caused significant genotoxic damage to both cell lines compared to their respective controls. The specificity study showed that LD exerted a moderate cytotoxic action against non-proliferating and proliferating blood lymphocytes but not apoptosis. Chemical analysis showed that a number of fractions were found to exert a significant growth inhibitory effect. However, the molecular weights of compounds within these fractions did not correspond to those from the herbal constituents of LD. Conclusion It is possible that LD may have some chemotherapeutic potential. However

  11. A modified linear algebraic approach to electron scattering using cubic splines

    International Nuclear Information System (INIS)

    Kinney, R.A.

    1986-01-01

    A modified linear algebraic approach to the solution of the Schrodiner equation for low-energy electron scattering is presented. The method uses a piecewise cubic-spline approximation of the wavefunction. Results in the static-potential and the static-exchange approximations for e - +H s-wave scattering are compared with unmodified linear algebraic and variational linear algebraic methods. (author)

  12. Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs

    International Nuclear Information System (INIS)

    Savas, Sevtap; Ozcelik, Hilmi

    2005-01-01

    Phosphorylation is a reversible post-translational modification that affects the intrinsic properties of proteins, such as structure and function. Non-synonymous single nucleotide polymorphisms (nsSNPs) result in the substitution of the encoded amino acids and thus are likely to alter the phosphorylation motifs in the proteins. In this study, we used the web-based NetPhos tool to predict candidate nsSNPs that either introduce or remove putative phosphorylation sites in proteins that act in DNA repair and cell cycle pathways. Our results demonstrated that a total of 15 nsSNPs (16.9%) were likely to alter the putative phosphorylation patterns of 14 proteins. Three of these SNPs (CDKN1A-S31R, OGG1-S326C, and XRCC3-T241M) have already found to be associated with altered cancer risk. We believe that this set of nsSNPs constitutes an excellent resource for further molecular and genetic analyses. The novel systematic approach used in this study will accelerate the understanding of how naturally occurring human SNPs may alter protein function through the modification of phosphorylation mechanisms and contribute to disease susceptibility

  13. Mapping and validation of the major sex-determining region in Nile tilapia (Oreochromis niloticus L. Using RAD sequencing.

    Directory of Open Access Journals (Sweden)

    Christos Palaiokostas

    Full Text Available Sex in Oreochromis niloticus (Nile tilapia is principally determined by an XX/XY locus but other genetic and environmental factors also influence sex ratio. Restriction Associated DNA (RAD sequencing was used in two families derived from crossing XY males with females from an isogenic clonal line, in order to identify Single Nucleotide Polymorphisms (SNPs and map the sex-determining region(s. We constructed a linkage map with 3,802 SNPs, which corresponded to 3,280 informative markers, and identified a major sex-determining region on linkage group 1, explaining nearly 96% of the phenotypic variance. This sex-determining region was mapped in a 2 cM interval, corresponding to approximately 1.2 Mb in the O. niloticus draft genome. In order to validate this, a diverse family (4 families; 96 individuals in total and population (40 broodstock individuals test panel were genotyped for five of the SNPs showing the highest association with phenotypic sex. From the expanded data set, SNPs Oni23063 and Oni28137 showed the highest association, which persisted both in the case of family and population data. Across the entire dataset all females were found to be homozygous for these two SNPs. Males were heterozygous, with the exception of five individuals in the population and two in the family dataset. These fish possessed the homozygous genotype expected of females. Progeny sex ratios (over 95% females from two of the males with the "female" genotype indicated that they were neomales (XX males. Sex reversal induced by elevated temperature during sexual differentiation also resulted in phenotypic males with the "female" genotype. This study narrows down the region containing the main sex-determining locus, and provides genetic markers tightly linked to this locus, with an association that persisted across the population. These markers will be of use in refining the production of genetically male O. niloticus for aquaculture.

  14. The Type 1 Diabetes - HLA Susceptibility Interactome - Identification of HLA Genotype-Specific Disease Genes for Type 1 Diabetes

    DEFF Research Database (Denmark)

    Brorsson, C.; Hansen, Niclas Tue; Bergholdt, R.

    2010-01-01

    Background: The individual contribution of genes in the HLA region to the risk of developing type 1 diabetes (T1D) is confounded by the high linkage disequilibrium (LD) in this region. Using a novel approach we have combined genetic association data with information on functional protein......-protein interactions to elucidate risk independent of LD and to place the genetic association into a functional context. Methodology/Principal Findings: Genetic association data from 2300 single nucleotide polymorphisms (SNPs) in the HLA region was analysed in 2200 T1D family trios divided into six risk groups based...... on HLA-DRB1 genotypes. The best SNP signal in each gene was mapped to proteins in a human protein interaction network and their significance of clustering in functional network modules was evaluated. The significant network modules identified through this approach differed between the six HLA risk groups...

  15. Reliable allele detection using SNP-based PCR primers containing Locked Nucleic Acid: application in genetic mapping

    Directory of Open Access Journals (Sweden)

    Trognitz Friederike

    2007-02-01

    Full Text Available Abstract Background The diploid, Solanum caripense, a wild relative of potato and tomato, possesses valuable resistance to potato late blight and we are interested in the genetic base of this resistance. Due to extremely low levels of genetic variation within the S. caripense genome it proved impossible to generate a dense genetic map and to assign individual Solanum chromosomes through the use of conventional chromosome-specific SSR, RFLP, AFLP, as well as gene- or locus-specific markers. The ease of detection of DNA polymorphisms depends on both frequency and form of sequence variation. The narrow genetic background of close relatives and inbreds complicates the detection of persisting, reduced polymorphism and is a challenge to the development of reliable molecular markers. Nonetheless, monomorphic DNA fragments representing not directly usable conventional markers can contain considerable variation at the level of single nucleotide polymorphisms (SNPs. This can be used for the design of allele-specific molecular markers. The reproducible detection of allele-specific markers based on SNPs has been a technical challenge. Results We present a fast and cost-effective protocol for the detection of allele-specific SNPs by applying Sequence Polymorphism-Derived (SPD markers. These markers proved highly efficient for fingerprinting of individuals possessing a homogeneous genetic background. SPD markers are obtained from within non-informative, conventional molecular marker fragments that are screened for SNPs to design allele-specific PCR primers. The method makes use of primers containing a single, 3'-terminal Locked Nucleic Acid (LNA base. We demonstrate the applicability of the technique by successful genetic mapping of allele-specific SNP markers derived from monomorphic Conserved Ortholog Set II (COSII markers mapped to Solanum chromosomes, in S. caripense. By using SPD markers it was possible for the first time to map the S. caripense alleles

  16. Bristande samsyn i lärares definition av hot och våld : En kvalitativ studie om förekomst av hot och våld mot lärare på högstadieskolor.

    OpenAIRE

    Eklund, Anton; Johansson, Tommy

    2017-01-01

    Denna kvalitativa studie syftar till att studera förekomsten av hot och våld mot lärare på högstadieskolor, hur man på de undersökta skolorna arbetar med att minimera förekomsten av hot och våld samt hur lärare definierar sin syn på vad som kan vara hot och våld från föräldrar och elever. Studien är baserad på ett riktat bekvämlighetsurval där skyddsombud på högstadieskolor i den undersökta kommunen valdes ut. I samband med analysen av studiens resultat har Lintons rollteori använts för att s...

  17. Vector splines on the sphere with application to the estimation of vorticity and divergence from discrete, noisy data

    Science.gov (United States)

    Wahba, G.

    1982-01-01

    Vector smoothing splines on the sphere are defined. Theoretical properties are briefly alluded to. The appropriate Hilbert space norms used in a specific meteorological application are described and justified via a duality theorem. Numerical procedures for computing the splines as well as the cross validation estimate of two smoothing parameters are given. A Monte Carlo study is described which suggests the accuracy with which upper air vorticity and divergence can be estimated using measured wind vectors from the North American radiosonde network.

  18. SNP identification from RNA sequencing and linkage map construction of rubber tree for anchoring the draft genome.

    Science.gov (United States)

    Shearman, Jeremy R; Sangsrakru, Duangjai; Jomchai, Nukoon; Ruang-Areerate, Panthita; Sonthirod, Chutima; Naktang, Chaiwat; Theerawattanasuk, Kanikar; Tragoonrung, Somvong; Tangphatsornruang, Sithichoke

    2015-01-01

    Hevea brasiliensis, or rubber tree, is an important crop species that accounts for the majority of natural latex production. The rubber tree nuclear genome consists of 18 chromosomes and is roughly 2.15 Gb. The current rubber tree reference genome assembly consists of 1,150,326 scaffolds ranging from 200 to 531,465 bp and totalling 1.1 Gb. Only 143 scaffolds, totalling 7.6 Mb, have been placed into linkage groups. We have performed RNA-seq on 6 varieties of rubber tree to identify SNPs and InDels and used this information to perform target sequence enrichment and high throughput sequencing to genotype a set of SNPs in 149 rubber tree offspring from a cross between RRIM 600 and RRII 105 rubber tree varieties. We used this information to generate a linkage map allowing for the anchoring of 24,424 contigs from 3,009 scaffolds, totalling 115 Mb or 10.4% of the published sequence, into 18 linkage groups. Each linkage group contains between 319 and 1367 SNPs, or 60 to 194 non-redundant marker positions, and ranges from 156 to 336 cM in length. This linkage map includes 20,143 of the 69,300 predicted genes from rubber tree and will be useful for mapping studies and improving the reference genome assembly.

  19. Crafting an Argument in Steps: A Writing Process Model for Graduate and Professional Students with LD

    Science.gov (United States)

    Kallestinova, Elena

    2017-01-01

    The paper discusses argument pedagogy for graduate and professional students with learning disabilities (LD) in the context of academic writing. To understand the nature and types of writing problems that graduate and professional students with LD experience, the author presents results of a university-wide survey with the students who did and did…

  20. Finite nucleus Dirac mean field theory and random phase approximation using finite B splines

    International Nuclear Information System (INIS)

    McNeil, J.A.; Furnstahl, R.J.; Rost, E.; Shepard, J.R.; Department of Physics, University of Maryland, College Park, Maryland 20742; Department of Physics, University of Colorado, Boulder, Colorado 80309)

    1989-01-01

    We calculate the finite nucleus Dirac mean field spectrum in a Galerkin approach using finite basis splines. We review the method and present results for the relativistic σ-ω model for the closed-shell nuclei 16 O and 40 Ca. We study the convergence of the method as a function of the size of the basis and the closure properties of the spectrum using an energy-weighted dipole sum rule. We apply the method to the Dirac random-phase-approximation response and present results for the isoscalar 1/sup -/ and 3/sup -/ longitudinal form factors of 16 O and 40 Ca. We also use a B-spline spectral representation of the positive-energy projector to evaluate partial energy-weighted sum rules and compare with nonrelativistic sum rule results

  1. Thin-plate spline analysis of the effects of face mask treatment in children with maxillary retrognathism.

    Science.gov (United States)

    Chang, Jenny Zwei-Chieng; Liu, Pao-Hsin; Chen, Yi-Jane; Yao, Jane Chung-Chen; Chang, Hong-Po; Chang, Chih-Han; Chang, Frank Hsin-Fu

    2006-02-01

    Face mask therapy is indicated for growing patients who suffer from maxillary retrognathia. Most previous studies used conventional cephalometric analysis to evaluate the effects of face mask treatment. Cephalometric analysis has been shown to be insufficient for complex craniofacial configurations. The purpose of this study was to investigate changes in the craniofacial structure of children with maxillary retrognathism following face mask treatment by means of thin-plate spline analysis. Thirty children with skeletal Class III malocclusions who had been treated with face masks were compared with a group of 30 untreated gender-matched, age-matched, observation period-matched, and craniofacial configuration-matched subjects. Average geometries, scaled to an equivalent size, were generated by means of Procrustes analysis. Thin-plate spline analysis was then performed for localization of the shape changes. Face mask treatment induced a forward displacement of the maxilla, a counterclockwise rotation of the palatal plane, a horizontal compression of the anterior border of the symphysis and the condylar region, and a downward deformation of the menton. The cranial base exhibited a counterclockwise deformation as a whole. We conclude that thin-plate spline analysis is a valuable supplement to conventional cephalometric analysis.

  2. Alignment of large image series using cubic B-splines tessellation: application to transmission electron microscopy data.

    Science.gov (United States)

    Dauguet, Julien; Bock, Davi; Reid, R Clay; Warfield, Simon K

    2007-01-01

    3D reconstruction from serial 2D microscopy images depends on non-linear alignment of serial sections. For some structures, such as the neuronal circuitry of the brain, very large images at very high resolution are necessary to permit reconstruction. These very large images prevent the direct use of classical registration methods. We propose in this work a method to deal with the non-linear alignment of arbitrarily large 2D images using the finite support properties of cubic B-splines. After initial affine alignment, each large image is split into a grid of smaller overlapping sub-images, which are individually registered using cubic B-splines transformations. Inside the overlapping regions between neighboring sub-images, the coefficients of the knots controlling the B-splines deformations are blended, to create a virtual large grid of knots for the whole image. The sub-images are resampled individually, using the new coefficients, and assembled together into a final large aligned image. We evaluated the method on a series of large transmission electron microscopy images and our results indicate significant improvements compared to both manual and affine alignment.

  3. Genotyping of Brucella species using clade specific SNPs

    Directory of Open Access Journals (Sweden)

    Foster Jeffrey T

    2012-06-01

    Full Text Available Abstract Background Brucellosis is a worldwide disease of mammals caused by Alphaproteobacteria in the genus Brucella. The genus is genetically monomorphic, requiring extensive genotyping to differentiate isolates. We utilized two different genotyping strategies to characterize isolates. First, we developed a microarray-based assay based on 1000 single nucleotide polymorphisms (SNPs that were identified from whole genome comparisons of two B. abortus isolates , one B. melitensis, and one B. suis. We then genotyped a diverse collection of 85 Brucella strains at these SNP loci and generated a phylogenetic tree of relationships. Second, we developed a selective primer-extension assay system using capillary electrophoresis that targeted 17 high value SNPs across 8 major branches of the phylogeny and determined their genotypes in a large collection ( n = 340 of diverse isolates. Results Our 1000 SNP microarray readily distinguished B. abortus, B. melitensis, and B. suis, differentiating B. melitensis and B. suis into two clades each. Brucella abortus was divided into four major clades. Our capillary-based SNP genotyping confirmed all major branches from the microarray assay and assigned all samples to defined lineages. Isolates from these lineages and closely related isolates, among the most commonly encountered lineages worldwide, can now be quickly and easily identified and genetically characterized. Conclusions We have identified clade-specific SNPs in Brucella that can be used for rapid assignment into major groups below the species level in the three main Brucella species. Our assays represent SNP genotyping approaches that can reliably determine the evolutionary relationships of bacterial isolates without the need for whole genome sequencing of all isolates.

  4. SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects.

    Science.gov (United States)

    Dereeper, Alexis; Nicolas, Stéphane; Le Cunff, Loïc; Bacilieri, Roberto; Doligez, Agnès; Peros, Jean-Pierre; Ruiz, Manuel; This, Patrice

    2011-05-05

    High-throughput re-sequencing, new genotyping technologies and the availability of reference genomes allow the extensive characterization of Single Nucleotide Polymorphisms (SNPs) and insertion/deletion events (indels) in many plant species. The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale genetic diversity projects requires the development of integrated bioinformatics tools able to efficiently manage, analyze, and combine these genetic data with genome structure and external data. In this context, we developed SNiPlay, a flexible, user-friendly and integrative web-based tool dedicated to polymorphism discovery and analysis. It integrates:1) a pipeline, freely accessible through the internet, combining existing softwares with new tools to detect SNPs and to compute different types of statistical indices and graphical layouts for SNP data. From standard sequence alignments, genotyping data or Sanger sequencing traces given as input, SNiPlay detects SNPs and indels events and outputs submission files for the design of Illumina's SNP chips. Subsequently, it sends sequences and genotyping data into a series of modules in charge of various processes: physical mapping to a reference genome, annotation (genomic position, intron/exon location, synonymous/non-synonymous substitutions), SNP frequency determination in user-defined groups, haplotype reconstruction and network, linkage disequilibrium evaluation, and diversity analysis (Pi, Watterson's Theta, Tajima's D).Furthermore, the pipeline allows the use of external data (such as phenotype, geographic origin, taxa, stratification) to define groups and compare statistical indices.2) a database storing polymorphisms, genotyping data and grapevine sequences released by public and private projects. It allows the user to retrieve SNPs using various filters (such as genomic position, missing data, polymorphism type, allele frequency), to compare SNP patterns between populations, and to

  5. Spline based iterative phase retrieval algorithm for X-ray differential phase contrast radiography.

    Science.gov (United States)

    Nilchian, Masih; Wang, Zhentian; Thuering, Thomas; Unser, Michael; Stampanoni, Marco

    2015-04-20

    Differential phase contrast imaging using grating interferometer is a promising alternative to conventional X-ray radiographic methods. It provides the absorption, differential phase and scattering information of the underlying sample simultaneously. Phase retrieval from the differential phase signal is an essential problem for quantitative analysis in medical imaging. In this paper, we formalize the phase retrieval as a regularized inverse problem, and propose a novel discretization scheme for the derivative operator based on B-spline calculus. The inverse problem is then solved by a constrained regularized weighted-norm algorithm (CRWN) which adopts the properties of B-spline and ensures a fast implementation. The method is evaluated with a tomographic dataset and differential phase contrast mammography data. We demonstrate that the proposed method is able to produce phase image with enhanced and higher soft tissue contrast compared to conventional absorption-based approach, which can potentially provide useful information to mammographic investigations.

  6. [Non-rigid medical image registration based on mutual information and thin-plate spline].

    Science.gov (United States)

    Cao, Guo-gang; Luo, Li-min

    2009-01-01

    To get precise and complete details, the contrast in different images is needed in medical diagnosis and computer assisted treatment. The image registration is the basis of contrast, but the regular rigid registration does not satisfy the clinic requirements. A non-rigid medical image registration method based on mutual information and thin-plate spline was present. Firstly, registering two images globally based on mutual information; secondly, dividing reference image and global-registered image into blocks and registering them; then getting the thin-plate spline transformation according to the shift of blocks' center; finally, applying the transformation to the global-registered image. The results show that the method is more precise than the global rigid registration based on mutual information and it reduces the complexity of getting control points and satisfy the clinic requirements better by getting control points of the thin-plate transformation automatically.

  7. Fiscal 1999 research achievement report on the development of SNPs related technologies; 1999 nendo SNPs kanren gijutsu kaihatsu seika hokokusho

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2001-03-01

    Efforts are made to develop specimen processing technologies for modifying and enabling various kinds of specimens to automatically undergo SNP (single nucleotide polymorphism) analysis for medicine development and clinical diagnostic activities and to develop technologies and apparatuses to enable rapid, inexpensive, and simple search and analysis of SNPs using DNA (deoxyribonucleic acid) chips and mass spectrometry. Activities are conducted in the four fields involving (1) the development of a practical clinical system for rapid detection and analysis of SNPs, (2) research and development of an SNP scoring system using bar-coded oligonucleotides and magnetic beads, (3) research and development of a high-speed SNP analysis system using a mass spectrometer, and (4) the development of a high throughput SNP analysis line. Efforts exerted in field (1) involve a protein fixation method using plasma polymerization and its application to DNA arrays, development of an SNP detection method using human genomes, construction of a rapid DNA detection device using an electric field, development of an SNP analysis system using the solid phase HPA (hybridization protection assay) method, and SNP analysis using solid phase ligation. (NEDO)

  8. A Larger Chocolate Chip—Development of a 15K Theobroma cacao L. SNP Array to Create High-Density Linkage Maps

    Directory of Open Access Journals (Sweden)

    Donald Livingstone

    2017-12-01

    Full Text Available Cacao (Theobroma cacao L. is an important cash crop in tropical regions around the world and has a rich agronomic history in South America. As a key component in the cosmetic and confectionary industries, millions of people worldwide use products made from cacao, ranging from shampoo to chocolate. An Illumina Infinity II array was created using 13,530 SNPs identified within a small diversity panel of cacao. Of these SNPs, 12,643 derive from variation within annotated cacao genes. The genotypes of 3,072 trees were obtained, including two mapping populations from Ecuador. High-density linkage maps for these two populations were generated and compared to the cacao genome assembly. Phenotypic data from these populations were combined with the linkage maps to identify the QTLs for yield and disease resistance.

  9. A Larger Chocolate Chip-Development of a 15K Theobroma cacao L. SNP Array to Create High-Density Linkage Maps.

    Science.gov (United States)

    Livingstone, Donald; Stack, Conrad; Mustiga, Guiliana M; Rodezno, Dayana C; Suarez, Carmen; Amores, Freddy; Feltus, Frank A; Mockaitis, Keithanne; Cornejo, Omar E; Motamayor, Juan C

    2017-01-01

    Cacao ( Theobroma cacao L.) is an important cash crop in tropical regions around the world and has a rich agronomic history in South America. As a key component in the cosmetic and confectionary industries, millions of people worldwide use products made from cacao, ranging from shampoo to chocolate. An Illumina Infinity II array was created using 13,530 SNPs identified within a small diversity panel of cacao. Of these SNPs, 12,643 derive from variation within annotated cacao genes. The genotypes of 3,072 trees were obtained, including two mapping populations from Ecuador. High-density linkage maps for these two populations were generated and compared to the cacao genome assembly. Phenotypic data from these populations were combined with the linkage maps to identify the QTLs for yield and disease resistance.

  10. Preference learning with evolutionary Multivariate Adaptive Regression Spline model

    DEFF Research Database (Denmark)

    Abou-Zleikha, Mohamed; Shaker, Noor; Christensen, Mads Græsbøll

    2015-01-01

    This paper introduces a novel approach for pairwise preference learning through combining an evolutionary method with Multivariate Adaptive Regression Spline (MARS). Collecting users' feedback through pairwise preferences is recommended over other ranking approaches as this method is more appealing...... for function approximation as well as being relatively easy to interpret. MARS models are evolved based on their efficiency in learning pairwise data. The method is tested on two datasets that collectively provide pairwise preference data of five cognitive states expressed by users. The method is analysed...

  11. Nonlinear Multivariate Spline-Based Control Allocation for High-Performance Aircraft

    OpenAIRE

    Tol, H.J.; De Visser, C.C.; Van Kampen, E.; Chu, Q.P.

    2014-01-01

    High performance flight control systems based on the nonlinear dynamic inversion (NDI) principle require highly accurate models of aircraft aerodynamics. In general, the accuracy of the internal model determines to what degree the system nonlinearities can be canceled; the more accurate the model, the better the cancellation, and with that, the higher the performance of the controller. In this paper a new control system is presented that combines NDI with multivariate simplex spline based con...

  12. Optimisation and validation of methods to assess single nucleotide polymorphisms (SNPs) in archival histological material

    DEFF Research Database (Denmark)

    Andreassen, C N; Sørensen, Flemming Brandt; Overgaard

    2004-01-01

    only archival specimens are available. This study was conducted to validate protocols optimised for assessment of SNPs based on paraffin embedded, formalin fixed tissue samples.PATIENTS AND METHODS: In 137 breast cancer patients, three TGFB1 SNPs were assessed based on archival histological specimens...... precipitation).RESULTS: Assessment of SNPs based on archival histological material is encumbered by a number of obstacles and pitfalls. However, these can be widely overcome by careful optimisation of the methods used for sample selection, DNA extraction and PCR. Within 130 samples that fulfil the criteria...

  13. Mining the 30UTR of Autism-implicated Genes for SNPs Perturbing MicroRNA Regulation

    Institute of Scientific and Technical Information of China (English)

    Varadharajan Vaishnavi; Mayakannan Manikandan; Arasambattu Kannan Munirajan

    2014-01-01

    Autism spectrum disorder (ASD) refers to a group of childhood neurodevelopmental dis-orders with polygenic etiology. The expression of many genes implicated in ASD is tightly regulated by various factors including microRNAs (miRNAs), a class of noncoding RNAs 22 nucleotides in length that function to suppress translation by pairing with‘miRNA recognition elements’ (MREs) present in the 30untranslated region (30UTR) of target mRNAs. This emphasizes the role played by miRNAs in regulating neurogenesis, brain development and differentiation and hence any perturba-tions in this regulatory mechanism might affect these processes as well. Recently, single nucleotide polymorphisms (SNPs) present within 30UTRs of mRNAs have been shown to modulate existing MREs or even create new MREs. Therefore, we hypothesized that SNPs perturbing miRNA-medi-ated gene regulation might lead to aberrant expression of autism-implicated genes, thus resulting in disease predisposition or pathogenesis in at least a subpopulation of ASD individuals. We developed a systematic computational pipeline that integrates data from well-established databases. By following a stringent selection criterion, we identified 9 MRE-modulating SNPs and another 12 MRE-creating SNPs in the 30UTR of autism-implicated genes. These high-confidence candidate SNPs may play roles in ASD and hence would be valuable for further functional validation.

  14. In-silico analysis of non-synonymous-SNPs of STEAP2: To provoke the progression of prostate cancer

    Directory of Open Access Journals (Sweden)

    Naveed Muhammad

    2016-01-01

    Full Text Available As a novel biomarker from the STEAP family, STEAP2 encodes six transmembrane epithelial antigens to prostate cancer. The overexpression of STEAP2 is predicted as the second most common cancer in the world that is responsible for male cancer-related deaths. Nonsynonymous SNPs are important group of SNPs which lead to alternations in encoded polypeptides. Changes in the amino acid sequence of gene products can lead to abnormal tissue function. The present study firstly sorted out those SNPs which exist in the coding region of STEAP2 and evaluated their impact through computational tools. Secondly, the three-dimensional structure of STEAP2 was formed through I-TASSER and validated by different software. Genomic data has been retrieved from the 1000 Genome project and Ensembl and subsequently analysed using computational tools. Out of 177 non-synonymous single nucleotide polymorphisms (nsSNPs within the coding region, 42 mis-sense SNPs have been predicted as deleterious by all analyses. Our research shows a welldesigned computational methodology to inspect the prostate cancer associated nsSNPs. It can be concluded that these nsSNPs can play their role in the up-regulation of STEAP2 which further leads to progression of prostate cancer. It can benefit scientists in the handling of cancerassociated diseases related to STEAP2 through developing novel drug therapies.

  15. Explicit Gaussian quadrature rules for C^1 cubic splines with symmetrically stretched knot sequence

    KAUST Repository

    Ait-Haddou, Rachid; Barton, Michael; Calo, Victor M.

    2015-01-01

    We provide explicit expressions for quadrature rules on the space of C^1 cubic splines with non-uniform, symmetrically stretched knot sequences. The quadrature nodes and weights are derived via an explicit recursion that avoids an intervention

  16. Accuracy of Genomic Prediction in Synthetic Populations Depending on the Number of Parents, Relatedness, and Ancestral Linkage Disequilibrium.

    Science.gov (United States)

    Schopp, Pascal; Müller, Dominik; Technow, Frank; Melchinger, Albrecht E

    2017-01-01

    Synthetics play an important role in quantitative genetic research and plant breeding, but few studies have investigated the application of genomic prediction (GP) to these populations. Synthetics are generated by intermating a small number of parents ([Formula: see text] and thereby possess unique genetic properties, which make them especially suited for systematic investigations of factors contributing to the accuracy of GP. We generated synthetics in silico from [Formula: see text]2 to 32 maize (Zea mays L.) lines taken from an ancestral population with either short- or long-range linkage disequilibrium (LD). In eight scenarios differing in relatedness of the training and prediction sets and in the types of data used to calculate the relationship matrix (QTL, SNPs, tag markers, and pedigree), we investigated the prediction accuracy (PA) of Genomic best linear unbiased prediction (GBLUP) and analyzed contributions from pedigree relationships captured by SNP markers, as well as from cosegregation and ancestral LD between QTL and SNPs. The effects of training set size [Formula: see text] and marker density were also studied. Sampling few parents ([Formula: see text]) generates substantial sample LD that carries over into synthetics through cosegregation of alleles at linked loci. For fixed [Formula: see text], [Formula: see text] influences PA most strongly. If the training and prediction set are related, using [Formula: see text] parents yields high PA regardless of ancestral LD because SNPs capture pedigree relationships and Mendelian sampling through cosegregation. As [Formula: see text] increases, ancestral LD contributes more information, while other factors contribute less due to lower frequencies of closely related individuals. For unrelated prediction sets, only ancestral LD contributes information and accuracies were poor and highly variable for [Formula: see text] due to large sample LD. For large [Formula: see text], achieving moderate accuracy requires

  17. Development and preliminary validation of flux map processing code MAPLE

    International Nuclear Information System (INIS)

    Li Wenhuai; Zhang Xiangju; Dang Zhen; Chen Ming'an; Lu Haoliang; Li Jinggang; Wu Yuanbao

    2013-01-01

    The self-reliant flux map processing code MAPLE was developed by China General Nuclear Power Corporation (CGN). Weight coefficient method (WCM), polynomial expand method (PEM) and thin plane spline (TPS) method were applied to fit the deviation between measured and predicted detector signal results for two-dimensional radial plane, to interpolate or extrapolate the non-instrumented location deviation. Comparison of results in the test cases shows that the TPS method can better capture the information of curved fitting lines than the other methods. The measured flux map data of the Lingao Nuclear Power Plant were processed using MAPLE as validation test cases, combined with SMART code. Validation results show that the calculation results of MAPLE are reasonable and satisfied. (authors)

  18. Chironomidae Fauna (Diptera-Insecta) of Gümüldür Stream (İzmir)

    OpenAIRE

    USTAOĞLU, Mustafa Ruşen; BALIK, Süleyman; TAŞDEMİR, Ayşe

    2014-01-01

    Samples were collected monthly from 10 different stations between April, 1993, and March, 1994, in order to determine the Chironomidae fauna of Gümüldür Stream in İzmir, Turkey. Ten species were found in the stream as determined from qualitative analyses of the samples. Of these, 5 species belong to the subfamily Orthocladiinae and the remaining 5 belong to the subfamily Chironominae. This is the first study reporting the existence of these species in Gümüldür Stream.

  19. Quiet Clean Short-haul Experimental Engine (QCSEE). Ball spline pitch change mechanism design report

    Science.gov (United States)

    1978-01-01

    Detailed design parameters are presented for a variable-pitch change mechanism. The mechanism is a mechanical system containing a ball screw/spline driving two counteracting master bevel gears meshing pinion gears attached to each of 18 fan blades.

  20. First-Year College Students with ADHD And/or LD: Differences in Engagement, Positive Core Self-Evaluation, School Preparation, and College Expectations

    Science.gov (United States)

    DuPaul, George J.; Pinho, Trevor D.; Pollack, Brittany L.; Gormley, Matthew J.; Laracy, Seth D.

    2017-01-01

    Students with attention-deficit/hyperactivity disorder (ADHD) and/or learning disabilities (LD) experience significant challenges in making the transition from high school to college. This study examined the ways first-year college students with ADHD, LD, ADHD+LD, and comparison peers differ in engagement, core self-evaluation, high school…

  1. Genetic variation of temperature-regulated curd induction in cauliflower: elucidation of floral transition by genome-wide association mapping and gene expression analysis

    Science.gov (United States)

    Matschegewski, Claudia; Zetzsche, Holger; Hasan, Yaser; Leibeguth, Lena; Briggs, William; Ordon, Frank; Uptmoor, Ralf

    2015-01-01

    Cauliflower (Brassica oleracea var. botrytis) is a vernalization-responsive crop. High ambient temperatures delay harvest time. The elucidation of the genetic regulation of floral transition is highly interesting for a precise harvest scheduling and to ensure stable market supply. This study aims at genetic dissection of temperature-dependent curd induction in cauliflower by genome-wide association studies and gene expression analysis. To assess temperature-dependent curd induction, two greenhouse trials under distinct temperature regimes were conducted on a diversity panel consisting of 111 cauliflower commercial parent lines, genotyped with 14,385 SNPs. Broad phenotypic variation and high heritability (0.93) were observed for temperature-related curd induction within the cauliflower population. GWA mapping identified a total of 18 QTL localized on chromosomes O1, O2, O3, O4, O6, O8, and O9 for curding time under two distinct temperature regimes. Among those, several QTL are localized within regions of promising candidate flowering genes. Inferring population structure and genetic relatedness among the diversity set assigned three main genetic clusters. Linkage disequilibrium (LD) patterns estimated global LD extent of r2 = 0.06 and a maximum physical distance of 400 kb for genetic linkage. Transcriptional profiling of flowering genes FLOWERING LOCUS C (BoFLC) and VERNALIZATION 2 (BoVRN2) was performed, showing increased expression levels of BoVRN2 in genotypes with faster curding. However, functional relevance of BoVRN2 and BoFLC2 could not consistently be supported, which probably suggests to act facultative and/or might evidence for BoVRN2/BoFLC-independent mechanisms in temperature-regulated floral transition in cauliflower. Genetic insights in temperature-regulated curd induction can underpin genetically informed phenology models and benefit molecular breeding strategies toward the development of thermo-tolerant cultivars. PMID:26442034

  2. Microscopic Model of Automobile Lane-changing Virtual Desire Trajectory by Spline Curves

    Directory of Open Access Journals (Sweden)

    Yulong Pei

    2010-05-01

    Full Text Available With the development of microscopic traffic simulation models, they have increasingly become an important tool for transport system analysis and management, which assist the traffic engineer to investigate and evaluate the performance of transport network systems. Lane-changing model is a vital component in any traffic simulation model, which could improve road capacity and reduce vehicles delay so as to reduce the likelihood of congestion occurrence. Therefore, this paper addresses the virtual desire trajectory, a vital part to investigate the behaviour divided into four phases. Based on the boundary conditions, β-spline curves and the corresponding reverse algorithm are introduced firstly. Thus, the relation between the velocity and length of lane-changing is constructed, restricted by the curvature, steering velocity and driving behaviour. Then the virtual desire trajectory curves are presented by Matlab and the error analysis results prove that this proposed description model has higher precision in automobile lane-changing process reconstruction, compared with the surveyed result. KEY WORDS: traffic simulation, lane-changing model, virtual desire trajectory, β-spline curves, driving behaviour

  3. The Meaning-making of Dag Hammarskjöld

    Directory of Open Access Journals (Sweden)

    Kristian Stålne

    2011-10-01

    Full Text Available Dag Hammarskjöld, United Nations’ second Secretary-General 1954-1961, is getting recent attention for two reasons: he is going to front the new Swedish 1000-kronor note, the highest value; and this September it was 50 years since he was killed in an airplane crash in UN service in Congo. With that event, the most successful career in an international service that a Swede has ever had was terminated prematurely, a service that would set an unmistakable imprint on the UN organization as well as on the world stage of politics. But what made Dag Hammarskjöld such an exceptional leader and how did he view the world and his role in it? He was not only exceptional as a leader and world-centric visionary; he was also a mystic and an aesthetician with a highly analytic mind. What is unique is the fact that large parts of his thinking and personal struggling are available to the world through a dense material of his speeches and personal writings. This has made it possible to analyse the stages of development represented in them. Using ego development theory, described by Jane Loevinger as well as Robert Kegan, I offer the analysis that his writings, including during his most severe personal crisis, indicate he passed through a transition between the individualist and autonomous stages.

  4. Fuzzy topological digital space and digital fuzzy spline of electroencephalography during epileptic seizures

    Science.gov (United States)

    Shah, Mazlina Muzafar; Wahab, Abdul Fatah

    2017-08-01

    Epilepsy disease occurs because of there is a temporary electrical disturbance in a group of brain cells (nurons). The recording of electrical signals come from the human brain which can be collected from the scalp of the head is called Electroencephalography (EEG). EEG then considered in digital format and in fuzzy form makes it a fuzzy digital space data form. The purpose of research is to identify the area (curve and surface) in fuzzy digital space affected by inside epilepsy seizure in epileptic patient's brain. The main focus for this research is to generalize fuzzy topological digital space, definition and basic operation also the properties by using digital fuzzy set and the operations. By using fuzzy digital space, the theory of digital fuzzy spline can be introduced to replace grid data that has been use previously to get better result. As a result, the flat of EEG can be fuzzy topological digital space and this type of data can be use to interpolate the digital fuzzy spline.

  5. Students classified as LD and the college foreign language requirement: a quantitative analysis.

    Science.gov (United States)

    Sparks, R L; Philips, L; Ganschow, L; Javorsky, J

    1999-01-01

    This study was conducted to determine whether students classified as learning disabled (LD) who were permitted to substitute courses for the college foreign language (FL) requirement at one university would display significant cognitive and academic achievement differences when grouped by level of discrepancy between IQ and achievement, by discrepancy between achievement according to different measures, and by level of performance on phonological-orthographic processing measures, on the Modern Language Aptitude Test (MLAT), and in FL courses. Results showed that there were no differences among students with different levels of discrepancy (i.e., 1.50 SD) on MLAT and American College Testing (ACT) scores, graduating grade point average (GPA) or college FL GPA. Results also showed that among students who scored below versus at or above the 25th percentile on phonological-orthographic processing measures, there were no differences on measures of IQ, ACT, MLAT, and GPA, as well as most measures of academic achievement. Implications for the use of the LD label to grant FL course substitutions or waivers, use of the MLAT in the diagnostic and course substitution/waiver process, and the validity and reliability of traditional criteria for the classification as LD are discussed.

  6. Construction of an almond linkage map in an Australian population Nonpareil × Lauranne

    Directory of Open Access Journals (Sweden)

    Gibson John P

    2010-10-01

    Full Text Available Abstract Background Despite a high genetic similarity to peach, almonds (Prunus dulcis have a fleshless fruit and edible kernel, produced as a crop for human consumption. While the release of peach genome v1.0 provides an excellent opportunity for almond genetic and genomic studies, well-assessed segregating populations and the respective saturated genetic linkage maps lay the foundation for such studies to be completed in almond. Results Using an almond intraspecific cross between 'Nonpareil' and 'Lauranne' (N × L, we constructed a moderately saturated map with SSRs, SNPs, ISSRs and RAPDs. The N × L map covered 591.4 cM of the genome with 157 loci. The average marker distance of the map was 4.0 cM. The map displayed high synteny and colinearity with the Prunus T × E reference map in all eight linkage groups (G1-G8. The positions of 14 mapped gene-anchored SNPs corresponded approximately with the positions of homologous sequences in the peach genome v1.0. Analysis of Mendelian segregation ratios showed that 17.9% of markers had significantly skewed genotype ratios at the level of P ® 3 were compared, and their high degree of similarity was evident despite the positional inconsistency of a few markers. Conclusions We presented a moderately saturated Australian almond map, which is highly syntenic and collinear with the Prunus reference map and peach genome V1.0. Therefore, the well-assessed almond population reported here can be used to investigate the traits of interest under Australian growing conditions, and provides more information on the almond genome for the international community.

  7. Screening for SNPs with Allele-Specific Methylation based on Next-Generation Sequencing Data.

    Science.gov (United States)

    Hu, Bo; Ji, Yuan; Xu, Yaomin; Ting, Angela H

    2013-05-01

    Allele-specific methylation (ASM) has long been studied but mainly documented in the context of genomic imprinting and X chromosome inactivation. Taking advantage of the next-generation sequencing technology, we conduct a high-throughput sequencing experiment with four prostate cell lines to survey the whole genome and identify single nucleotide polymorphisms (SNPs) with ASM. A Bayesian approach is proposed to model the counts of short reads for each SNP conditional on its genotypes of multiple subjects, leading to a posterior probability of ASM. We flag SNPs with high posterior probabilities of ASM by accounting for multiple comparisons based on posterior false discovery rates. Applying the Bayesian approach to the in-house prostate cell line data, we identify 269 SNPs as candidates of ASM. A simulation study is carried out to demonstrate the quantitative performance of the proposed approach.

  8. Isogeometric finite element data structures based on Bézier extraction of T-splines

    NARCIS (Netherlands)

    Scott, M.A.; Borden, M.J.; Verhoosel, C.V.; Sederberg, T.W.; Hughes, T.J.R.

    2011-01-01

    We develop finite element data structures for T-splines based on Bézier extraction generalizing our previous work for NURBS. As in traditional finite element analysis, the extracted Bézier elements are defined in terms of a fixed set of polynomial basis functions, the so-called Bernstein basis. The

  9. Iteratively re-weighted bi-cubic spline representation of corneal topography and its comparison to the standard methods.

    Science.gov (United States)

    Zhu, Zhongxia; Janunts, Edgar; Eppig, Timo; Sauer, Tomas; Langenbucher, Achim

    2010-01-01

    The aim of this study is to represent the corneal anterior surface by utilizing radius and height data extracted from a TMS-2N topographic system with three different mathematical approaches and to simulate the visual performance. An iteratively re-weighted bi-cubic spline method is introduced for the local representation of the corneal surface. For comparison, two standard mathematical global representation approaches are used: the general quadratic function and the higher order Taylor polynomial approach. First, these methods were applied in simulations using three corneal models. Then, two real eye examples were investigated: one eye with regular astigmatism, and one eye which had undergone refractive surgery. A ray-tracing program was developed to evaluate the imaging performance of these examples with each surface representation strategy at the best focus plane. A 6 mm pupil size was chosen for the simulation. The fitting error (deviation) of the presented methods was compared. It was found that the accuracy of the topography representation was worst using the quadratic function and best with bicubic spline. The quadratic function cannot precisely describe the irregular corneal shape. In order to achieve a sub-micron fitting precision, the Taylor polynomial's order selection behaves adaptive to the corneal shape. The bi-cubic spline shows more stable performance. Considering the visual performance, the more precise the cornea representation is, the worse the visual performance is. The re-weighted bi-cubic spline method is a reasonable and stable method for representing the anterior corneal surface in measurements using a Placido-ring-pattern-based corneal topographer. Copyright © 2010. Published by Elsevier GmbH.

  10. Optimal quadrature rules for odd-degree spline spaces and their application to tensor-product-based isogeometric analysis

    KAUST Repository

    Barton, Michael

    2016-03-14

    We introduce optimal quadrature rules for spline spaces that are frequently used in Galerkin discretizations to build mass and stiffness matrices. Using the homotopy continuation concept (Bartoň and Calo, 2016) that transforms optimal quadrature rules from source spaces to target spaces, we derive optimal rules for splines defined on finite domains. Starting with the classical Gaussian quadrature for polynomials, which is an optimal rule for a discontinuous odd-degree space, we derive rules for target spaces of higher continuity. We further show how the homotopy methodology handles cases where the source and target rules require different numbers of optimal quadrature points. We demonstrate it by deriving optimal rules for various odd-degree spline spaces, particularly with non-uniform knot sequences and non-uniform multiplicities. We also discuss convergence of our rules to their asymptotic counterparts, that is, the analogues of the midpoint rule of Hughes et al. (2010), that are exact and optimal for infinite domains. For spaces of low continuities, we numerically show that the derived rules quickly converge to their asymptotic counterparts as the weights and nodes of a few boundary elements differ from the asymptotic values.

  11. Optimal quadrature rules for odd-degree spline spaces and their application to tensor-product-based isogeometric analysis

    KAUST Repository

    Barton, Michael; Calo, Victor M.

    2016-01-01

    We introduce optimal quadrature rules for spline spaces that are frequently used in Galerkin discretizations to build mass and stiffness matrices. Using the homotopy continuation concept (Bartoň and Calo, 2016) that transforms optimal quadrature rules from source spaces to target spaces, we derive optimal rules for splines defined on finite domains. Starting with the classical Gaussian quadrature for polynomials, which is an optimal rule for a discontinuous odd-degree space, we derive rules for target spaces of higher continuity. We further show how the homotopy methodology handles cases where the source and target rules require different numbers of optimal quadrature points. We demonstrate it by deriving optimal rules for various odd-degree spline spaces, particularly with non-uniform knot sequences and non-uniform multiplicities. We also discuss convergence of our rules to their asymptotic counterparts, that is, the analogues of the midpoint rule of Hughes et al. (2010), that are exact and optimal for infinite domains. For spaces of low continuities, we numerically show that the derived rules quickly converge to their asymptotic counterparts as the weights and nodes of a few boundary elements differ from the asymptotic values.

  12. Identification and analysis of Single Nucleotide Polymorphisms (SNPs in the mosquito Anopheles funestus, malaria vector

    Directory of Open Access Journals (Sweden)

    Hemingway Janet

    2007-01-01

    Full Text Available Abstract Background Single nucleotide polymorphisms (SNPs are the most common source of genetic variation in eukaryotic species and have become an important marker for genetic studies. The mosquito Anopheles funestus is one of the major malaria vectors in Africa and yet, prior to this study, no SNPs have been described for this species. Here we report a genome-wide set of SNP markers for use in genetic studies on this important human disease vector. Results DNA fragments from 50 genes were amplified and sequenced from 21 specimens of An. funestus. A third of specimens were field collected in Malawi, a third from a colony of Mozambican origin and a third form a colony of Angolan origin. A total of 494 SNPs including 303 within the coding regions of genes and 5 indels were identified. The physical positions of these SNPs in the genome are known. There were on average 7 SNPs per kilobase similar to that observed in An. gambiae and Drosophila melanogaster. Transitions outnumbered transversions, at a ratio of 2:1. The increased frequency of transition substitutions in coding regions is likely due to the structure of the genetic code and selective constraints. Synonymous sites within coding regions showed a higher polymorphism rate than non-coding introns or 3' and 5'flanking DNA with most of the substitutions in coding regions being observed at the 3rd codon position. A positive correlation in the level of polymorphism was observed between coding and non-coding regions within a gene. By genotyping a subset of 30 SNPs, we confirmed the validity of the SNPs identified during this study. Conclusion This set of SNP markers represents a useful tool for genetic studies in An. funestus, and will be useful in identifying candidate genes that affect diverse ranges of phenotypes that impact on vector control, such as resistance insecticide, mosquito behavior and vector competence.

  13. A scalable block-preconditioning strategy for divergence-conforming B-spline discretizations of the Stokes problem

    KAUST Repository

    Cortes, Adriano Mauricio; Dalcin, Lisandro; Sarmiento, Adel; Collier, N.; Calo, Victor M.

    2016-01-01

    The recently introduced divergence-conforming B-spline discretizations allow the construction of smooth discrete velocity-pressure pairs for viscous incompressible flows that are at the same time inf−supinf−sup stable and pointwise divergence

  14. Non-stationary hydrologic frequency analysis using B-spline quantile regression

    Science.gov (United States)

    Nasri, B.; Bouezmarni, T.; St-Hilaire, A.; Ouarda, T. B. M. J.

    2017-11-01

    Hydrologic frequency analysis is commonly used by engineers and hydrologists to provide the basic information on planning, design and management of hydraulic and water resources systems under the assumption of stationarity. However, with increasing evidence of climate change, it is possible that the assumption of stationarity, which is prerequisite for traditional frequency analysis and hence, the results of conventional analysis would become questionable. In this study, we consider a framework for frequency analysis of extremes based on B-Spline quantile regression which allows to model data in the presence of non-stationarity and/or dependence on covariates with linear and non-linear dependence. A Markov Chain Monte Carlo (MCMC) algorithm was used to estimate quantiles and their posterior distributions. A coefficient of determination and Bayesian information criterion (BIC) for quantile regression are used in order to select the best model, i.e. for each quantile, we choose the degree and number of knots of the adequate B-spline quantile regression model. The method is applied to annual maximum and minimum streamflow records in Ontario, Canada. Climate indices are considered to describe the non-stationarity in the variable of interest and to estimate the quantiles in this case. The results show large differences between the non-stationary quantiles and their stationary equivalents for an annual maximum and minimum discharge with high annual non-exceedance probabilities.

  15. Using Spline Regression in Semi-Parametric Stochastic Frontier Analysis: An Application to Polish Dairy Farms

    DEFF Research Database (Denmark)

    Czekaj, Tomasz Gerard; Henningsen, Arne

    of specifying an unsuitable functional form and thus, model misspecification and biased parameter estimates. Given these problems of the DEA and the SFA, Fan, Li and Weersink (1996) proposed a semi-parametric stochastic frontier model that estimates the production function (frontier) by non......), Kumbhakar et al. (2007), and Henningsen and Kumbhakar (2009). The aim of this paper and its main contribution to the existing literature is the estimation semi-parametric stochastic frontier models using a different non-parametric estimation technique: spline regression (Ma et al. 2011). We apply...... efficiency of Polish dairy farms contributes to the insight into this dynamic process. Furthermore, we compare and evaluate the results of this spline-based semi-parametric stochastic frontier model with results of other semi-parametric stochastic frontier models and of traditional parametric stochastic...

  16. Multivariate Hermite interpolation on scattered point sets using tensor-product expo-rational B-splines

    Science.gov (United States)

    Dechevsky, Lubomir T.; Bang, Børre; Laksa˚, Arne; Zanaty, Peter

    2011-12-01

    At the Seventh International Conference on Mathematical Methods for Curves and Surfaces, To/nsberg, Norway, in 2008, several new constructions for Hermite interpolation on scattered point sets in domains in Rn,n∈N, combined with smooth convex partition of unity for several general types of partitions of these domains were proposed in [1]. All of these constructions were based on a new type of B-splines, proposed by some of the authors several years earlier: expo-rational B-splines (ERBS) [3]. In the present communication we shall provide more details about one of these constructions: the one for the most general class of domain partitions considered. This construction is based on the use of two separate families of basis functions: one which has all the necessary Hermite interpolation properties, and another which has the necessary properties of a smooth convex partition of unity. The constructions of both of these two bases are well-known; the new part of the construction is the combined use of these bases for the derivation of a new basis which enjoys having all above-said interpolation and unity partition properties simultaneously. In [1] the emphasis was put on the use of radial basis functions in the definitions of the two initial bases in the construction; now we shall put the main emphasis on the case when these bases consist of tensor-product B-splines. This selection provides two useful advantages: (A) it is easier to compute higher-order derivatives while working in Cartesian coordinates; (B) it becomes clear that this construction becomes a far-going extension of tensor-product constructions. We shall provide 3-dimensional visualization of the resulting bivariate bases, using tensor-product ERBS. In the main tensor-product variant, we shall consider also replacement of ERBS with simpler generalized ERBS (GERBS) [2], namely, their simplified polynomial modifications: the Euler Beta-function B-splines (BFBS). One advantage of using BFBS instead of ERBS

  17. Discrete quintic spline for boundary value problem in plate deflation theory

    Science.gov (United States)

    Wong, Patricia J. Y.

    2017-07-01

    We propose a numerical scheme for a fourth-order boundary value problem arising from plate deflation theory. The scheme involves a discrete quintic spline, and it is of order 4 if a parameter takes a specific value, else it is of order 2. We also present a well known numerical example to illustrate the efficiency of our method as well as to compare with other numerical methods proposed in the literature.

  18. Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.

    Science.gov (United States)

    Bosch, Nina; Morell, Marta; Ponsa, Immaculada; Mercader, Josep Maria; Armengol, Lluís; Estivill, Xavier

    2009-12-14

    The human chromosome 8p23.1 region contains a 3.8-4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals. We have identified 16 SNPs, which are in linkage disequilibrium (LD) with the 8p23.1 inversion as detected by fluorescent in situ hybridization (FISH). The variability of the 8p23.1 orientation in 150 HapMap samples was predicted using this set of SNPs and was verified by FISH in a subset of samples. Four genes (NEIL2, MSRA, CTSB and BLK) were found differentially expressed (pinversion occurred. Moreover, an impact of 8p23.1 inversion on gene expression levels cannot be ruled out, since four genes from this region have statistically significant different expression levels depending on the inversion status. FISH results in lymphoblastoid cell lines suggest the presence of mosaicism regarding the 8p23.1 inversion.

  19. Numerical simulation of reaction-diffusion systems by modified cubic B-spline differential quadrature method

    International Nuclear Information System (INIS)

    Mittal, R.C.; Rohila, Rajni

    2016-01-01

    In this paper, we have applied modified cubic B-spline based differential quadrature method to get numerical solutions of one dimensional reaction-diffusion systems such as linear reaction-diffusion system, Brusselator system, Isothermal system and Gray-Scott system. The models represented by these systems have important applications in different areas of science and engineering. The most striking and interesting part of the work is the solution patterns obtained for Gray Scott model, reminiscent of which are often seen in nature. We have used cubic B-spline functions for space discretization to get a system of ordinary differential equations. This system of ODE’s is solved by highly stable SSP-RK43 method to get solution at the knots. The computed results are very accurate and shown to be better than those available in the literature. Method is easy and simple to apply and gives solutions with less computational efforts.

  20. Novel SNPs in HSPB8 gene and their association with heat tolerance traits in Sahiwal indigenous cattle.

    Science.gov (United States)

    Verma, Nishant; Gupta, Ishwar Dayal; Verma, Archana; Kumar, Rakesh; Das, Ramendra; Vineeth, M R

    2016-01-01

    Heat shock proteins (HSPs) are expressed in response to heat stress, and the polymorphism in HSP genes at single-nucleotide level has been reported to be associated with heat tolerance and production performance traits in cattle. HSPB8 gene has been mapped on Bos taurus autosome 17 (BTA-17) spanning nearly 13,252 bp and comprising three exons and two introns. The present study was conducted in Sahiwal cows (n = 108) reared in subtropical climate with the objectives to identify SNPs in all three exons and part of intron 1 of HSPB8 gene and to analyze their association with heat tolerance traits in Sahiwal cows. Respiration rate (RR) and rectal temperature (RT) were recorded once during probable extreme hours in different seasons or Temperature-Humidity Index (THI), i.e., winter, spring, and summer. Heat tolerance coefficient (HTC) was also calculated to check the adaptability of the animals during the period of heat stress. The comparative sequence analysis revealed a total two single-nucleotide polymorphisms (SNPs), i.e., g.507G>A in exon 1 and g.881T>C in intron 1 of HSPB8 gene. Out of these two identified SNPs, only one SNP, i.e., g.507G>A, was found to be significantly associated with heat tolerance indicator traits (RR, RT, and HTC) in Sahiwal cows. The perusal of results across different seasons showed the significant (P A SNP of HSPB8 gene. However, in case of another SNP, i.e., g.881T>C, located on intron 1, the RR, RT, and HTC were having non-significant association with the different genotypes, i.e., TT and TC. These findings may partly suggest that GA genotype of SNP g.507G>A of HSPB8 gene has a probable role in heat tolerance in Sahiwal cattle and can therefore be utilized as a marker in propagation of thermo-tolerance cattle in hot tropical and subtropical climate. Nevertheless, the involvement of other regulatory mechanisms cannot be overruled.

  1. Polynomial estimation of the smoothing splines for the new Finnish reference values for spirometry.

    Science.gov (United States)

    Kainu, Annette; Timonen, Kirsi

    2016-07-01

    Background Discontinuity of spirometry reference values from childhood into adulthood has been a problem with traditional reference values, thus modern modelling approaches using smoothing spline functions to better depict the transition during growth and ageing have been recently introduced. Following the publication of the new international Global Lung Initiative (GLI2012) reference values also new national Finnish reference values have been calculated using similar GAMLSS-modelling, with spline estimates for mean (Mspline) and standard deviation (Sspline) provided in tables. The aim of this study was to produce polynomial estimates for these spline functions to use in lieu of lookup tables and to assess their validity in the reference population of healthy non-smokers. Methods Linear regression modelling was used to approximate the estimated values for Mspline and Sspline using similar polynomial functions as in the international GLI2012 reference values. Estimated values were compared to original calculations in absolute values, the derived predicted mean and individually calculated z-scores using both values. Results Polynomial functions were estimated for all 10 spirometry variables. The agreement between original lookup table-produced values and polynomial estimates was very good, with no significant differences found. The variation slightly increased in larger predicted volumes, but a range of -0.018 to +0.022 litres of FEV1 representing ± 0.4% of maximum difference in predicted mean. Conclusions Polynomial approximations were very close to the original lookup tables and are recommended for use in clinical practice to facilitate the use of new reference values.

  2. Thin-plate spline analysis of the cranial base in subjects with Class III malocclusion.

    Science.gov (United States)

    Singh, G D; McNamara, J A; Lozanoff, S

    1997-08-01

    The role of the cranial base in the emergence of Class III malocclusion is not fully understood. This study determines deformations that contribute to a Class III cranial base morphology, employing thin-plate spline analysis on lateral cephalographs. A total of 73 children of European-American descent aged between 5 and 11 years of age with Class III malocclusion were compared with an equivalent group of subjects with a normal, untreated, Class I molar occlusion. The cephalographs were traced, checked and subdivided into seven age- and sex-matched groups. Thirteen points on the cranial base were identified and digitized. The datasets were scaled to an equivalent size, and statistical analysis indicated significant differences between average Class I and Class III cranial base morphologies for each group. Thin-plate spline analysis indicated that both affine (uniform) and non-affine transformations contribute toward the total spline for each average cranial base morphology at each age group analysed. For non-affine transformations, Partial warps 10, 8 and 7 had high magnitudes, indicating large-scale deformations affecting Bolton point, basion, pterygo-maxillare, Ricketts' point and articulare. In contrast, high eigenvalues associated with Partial warps 1-3, indicating localized shape changes, were found at tuberculum sellae, sella, and the frontonasomaxillary suture. It is concluded that large spatial-scale deformations affect the occipital complex of the cranial base and sphenoidal region, in combination with localized distortions at the frontonasal suture. These deformations may contribute to reduced orthocephalization or deficient flattening of the cranial base antero-posteriorly that, in turn, leads to the formation of a Class III malocclusion.

  3. Partition dataset according to amino acid type improves the prediction of deleterious non-synonymous SNPs

    International Nuclear Information System (INIS)

    Yang, Jing; Li, Yuan-Yuan; Li, Yi-Xue; Ye, Zhi-Qiang

    2012-01-01

    Highlights: ► Proper dataset partition can improve the prediction of deleterious nsSNPs. ► Partition according to original residue type at nsSNP is a good criterion. ► Similar strategy is supposed promising in other machine learning problems. -- Abstract: Many non-synonymous SNPs (nsSNPs) are associated with diseases, and numerous machine learning methods have been applied to train classifiers for sorting disease-associated nsSNPs from neutral ones. The continuously accumulated nsSNP data allows us to further explore better prediction approaches. In this work, we partitioned the training data into 20 subsets according to either original or substituted amino acid type at the nsSNP site. Using support vector machine (SVM), training classification models on each subset resulted in an overall accuracy of 76.3% or 74.9% depending on the two different partition criteria, while training on the whole dataset obtained an accuracy of only 72.6%. Moreover, the dataset was also randomly divided into 20 subsets, but the corresponding accuracy was only 73.2%. Our results demonstrated that partitioning the whole training dataset into subsets properly, i.e., according to the residue type at the nsSNP site, will improve the performance of the trained classifiers significantly, which should be valuable in developing better tools for predicting the disease-association of nsSNPs.

  4. Consortium analysis of 7 candidate SNPs for ovarian cancer

    DEFF Research Database (Denmark)

    Ramus, S.J.; Vierkant, R.A.; Johnatty, S.E.

    2008-01-01

    The Ovarian Cancer Association Consortium selected 7 candidate single nucleotide polymorphisms (SNPs), for which there is evidence from previous studies of an association with variation in ovarian cancer or breast cancer risks. The SNPs selected for analysis were F31I (rs2273535) in AURKA, N372H...... (rs144848) in BRCA2, rs2854344 in intron 17 of RB1, rs2811712 5' flanking CDKN2A, rs523349 in the 3' UTR of SRD5A2, D302H (rs1045485) in CASP8 and L10P (rs1982073) in TGFB1. Fourteen studies genotyped 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin...... was suggestive although no longer statistically significant (ordinal OR 0.92, 95% CI 0.79-1.06). This SNP has also been shown to have an association with decreased risk in breast cancer. There was a suggestion of an association for AURKA, when one study that caused significant study heterogeneity was excluded...

  5. Hierarchical and successive approximate registration of the non-rigid medical image based on thin-plate splines

    Science.gov (United States)

    Hu, Jinyan; Li, Li; Yang, Yunfeng

    2017-06-01

    The hierarchical and successive approximate registration method of non-rigid medical image based on the thin-plate splines is proposed in the paper. There are two major novelties in the proposed method. First, the hierarchical registration based on Wavelet transform is used. The approximate image of Wavelet transform is selected as the registered object. Second, the successive approximation registration method is used to accomplish the non-rigid medical images registration, i.e. the local regions of the couple images are registered roughly based on the thin-plate splines, then, the current rough registration result is selected as the object to be registered in the following registration procedure. Experiments show that the proposed method is effective in the registration process of the non-rigid medical images.

  6. Genome-wide single nucleotide polymorphisms (SNPs) for a model invasive ascidian Botryllus schlosseri.

    Science.gov (United States)

    Gao, Yangchun; Li, Shiguo; Zhan, Aibin

    2018-04-01

    Invasive species cause huge damages to ecology, environment and economy globally. The comprehensive understanding of invasion mechanisms, particularly genetic bases of micro-evolutionary processes responsible for invasion success, is essential for reducing potential damages caused by invasive species. The golden star tunicate, Botryllus schlosseri, has become a model species in invasion biology, mainly owing to its high invasiveness nature and small well-sequenced genome. However, the genome-wide genetic markers have not been well developed in this highly invasive species, thus limiting the comprehensive understanding of genetic mechanisms of invasion success. Using restriction site-associated DNA (RAD) tag sequencing, here we developed a high-quality resource of 14,119 out of 158,821 SNPs for B. schlosseri. These SNPs were relatively evenly distributed at each chromosome. SNP annotations showed that the majority of SNPs (63.20%) were located at intergenic regions, and 21.51% and 14.58% were located at introns and exons, respectively. In addition, the potential use of the developed SNPs for population genomics studies was primarily assessed, such as the estimate of observed heterozygosity (H O ), expected heterozygosity (H E ), nucleotide diversity (π), Wright's inbreeding coefficient (F IS ) and effective population size (Ne). Our developed SNP resource would provide future studies the genome-wide genetic markers for genetic and genomic investigations, such as genetic bases of micro-evolutionary processes responsible for invasion success.

  7. Impact of the Personal Strengths Program on Self-Determination Levels of College Students with LD and/or ADHD

    Science.gov (United States)

    Farmer, Jennie L.; Allsopp, David H.; Ferron, John M.

    2015-01-01

    This study investigates the impact of The Personal Strengths Program (PSP) on seven college students with learning disabilities and/or attention deficit hyperactivity disorder (LD/ADHD) using a multiple baseline design. Students with LD/ADHD experience increased challenges in school settings and decreased post-secondary outcomes when compared with…

  8. Table S1 Basic characteristics of 32 SNPs of neurotransmitter ...

    Indian Academy of Sciences (India)

    微软用户

    Basic characteristics of 32 SNPs in neurotransmitter-related genes. Gene .... rs45435444, rs80837467 and rs80980072, significant differences (P. *** * ... At the same age and environments, skin lesion scores on the ears (P < 0.001), front (P <.

  9. Examination of influential observations in penalized spline regression

    Science.gov (United States)

    Türkan, Semra

    2013-10-01

    In parametric or nonparametric regression models, the results of regression analysis are affected by some anomalous observations in the data set. Thus, detection of these observations is one of the major steps in regression analysis. These observations are precisely detected by well-known influence measures. Pena's statistic is one of them. In this study, Pena's approach is formulated for penalized spline regression in terms of ordinary residuals and leverages. The real data and artificial data are used to see illustrate the effectiveness of Pena's statistic as to Cook's distance on detecting influential observations. The results of the study clearly reveal that the proposed measure is superior to Cook's Distance to detect these observations in large data set.

  10. A consensus linkage map for molecular markers and Quantitative Trait Loci associated with economically important traits in melon (Cucumis melo L.)

    Science.gov (United States)

    2011-01-01

    Background A number of molecular marker linkage maps have been developed for melon (Cucumis melo L.) over the last two decades. However, these maps were constructed using different marker sets, thus, making comparative analysis among maps difficult. In order to solve this problem, a consensus genetic map in melon was constructed using primarily highly transferable anchor markers that have broad potential use for mapping, synteny, and comparative quantitative trait loci (QTL) analysis, increasing breeding effectiveness and efficiency via marker-assisted selection (MAS). Results Under the framework of the International Cucurbit Genomics Initiative (ICuGI, http://www.icugi.org), an integrated genetic map has been constructed by merging data from eight independent mapping experiments using a genetically diverse array of parental lines. The consensus map spans 1150 cM across the 12 melon linkage groups and is composed of 1592 markers (640 SSRs, 330 SNPs, 252 AFLPs, 239 RFLPs, 89 RAPDs, 15 IMAs, 16 indels and 11 morphological traits) with a mean marker density of 0.72 cM/marker. One hundred and ninety-six of these markers (157 SSRs, 32 SNPs, 6 indels and 1 RAPD) were newly developed, mapped or provided by industry representatives as released markers, including 27 SNPs and 5 indels from genes involved in the organic acid metabolism and transport, and 58 EST-SSRs. Additionally, 85 of 822 SSR markers contributed by Syngenta Seeds were included in the integrated map. In addition, 370 QTL controlling 62 traits from 18 previously reported mapping experiments using genetically diverse parental genotypes were also integrated into the consensus map. Some QTL associated with economically important traits detected in separate studies mapped to similar genomic positions. For example, independently identified QTL controlling fruit shape were mapped on similar genomic positions, suggesting that such QTL are possibly responsible for the phenotypic variability observed for this trait in

  11. A consensus linkage map for molecular markers and Quantitative Trait Loci associated with economically important traits in melon (Cucumis melo L.

    Directory of Open Access Journals (Sweden)

    Schaffer Arthur

    2011-07-01

    Full Text Available Abstract Background A number of molecular marker linkage maps have been developed for melon (Cucumis melo L. over the last two decades. However, these maps were constructed using different marker sets, thus, making comparative analysis among maps difficult. In order to solve this problem, a consensus genetic map in melon was constructed using primarily highly transferable anchor markers that have broad potential use for mapping, synteny, and comparative quantitative trait loci (QTL analysis, increasing breeding effectiveness and efficiency via marker-assisted selection (MAS. Results Under the framework of the International Cucurbit Genomics Initiative (ICuGI, http://www.icugi.org, an integrated genetic map has been constructed by merging data from eight independent mapping experiments using a genetically diverse array of parental lines. The consensus map spans 1150 cM across the 12 melon linkage groups and is composed of 1592 markers (640 SSRs, 330 SNPs, 252 AFLPs, 239 RFLPs, 89 RAPDs, 15 IMAs, 16 indels and 11 morphological traits with a mean marker density of 0.72 cM/marker. One hundred and ninety-six of these markers (157 SSRs, 32 SNPs, 6 indels and 1 RAPD were newly developed, mapped or provided by industry representatives as released markers, including 27 SNPs and 5 indels from genes involved in the organic acid metabolism and transport, and 58 EST-SSRs. Additionally, 85 of 822 SSR markers contributed by Syngenta Seeds were included in the integrated map. In addition, 370 QTL controlling 62 traits from 18 previously reported mapping experiments using genetically diverse parental genotypes were also integrated into the consensus map. Some QTL associated with economically important traits detected in separate studies mapped to similar genomic positions. For example, independently identified QTL controlling fruit shape were mapped on similar genomic positions, suggesting that such QTL are possibly responsible for the phenotypic variability

  12. Accurate B-spline-based 3-D interpolation scheme for digital volume correlation

    Science.gov (United States)

    Ren, Maodong; Liang, Jin; Wei, Bin

    2016-12-01

    An accurate and efficient 3-D interpolation scheme, based on sampling theorem and Fourier transform technique, is proposed to reduce the sub-voxel matching error caused by intensity interpolation bias in digital volume correlation. First, the influence factors of the interpolation bias are investigated theoretically using the transfer function of an interpolation filter (henceforth filter) in the Fourier domain. A law that the positional error of a filter can be expressed as a function of fractional position and wave number is found. Then, considering the above factors, an optimized B-spline-based recursive filter, combining B-spline transforms and least squares optimization method, is designed to virtually eliminate the interpolation bias in the process of sub-voxel matching. Besides, given each volumetric image containing different wave number ranges, a Gaussian weighting function is constructed to emphasize or suppress certain of wave number ranges based on the Fourier spectrum analysis. Finally, a novel software is developed and series of validation experiments were carried out to verify the proposed scheme. Experimental results show that the proposed scheme can reduce the interpolation bias to an acceptable level.

  13. The Transmission Disequilibrium/Heterogeneity Test with Parental-Genotype Reconstruction for Refined Genetic Mapping of Complex Diseases

    Directory of Open Access Journals (Sweden)

    Jing Han

    2012-01-01

    Full Text Available In linkage analysis for mapping genetic diseases, the transmission/disequilibrium test (TDT uses the linkage disequilibrium (LD between some marker and trait loci for precise genetic mapping while avoiding confounding due to population stratification. The sib-TDT (S-TDT and combined-TDT (C-TDT proposed by Spielman and Ewens can combine data from families with and without parental marker genotypes (PMGs. For some families with missing PMG, the reconstruction-combined TDT (RC-TDT proposed by Knapp may be used to reconstruct missing parental genotypes from the genotypes of their offspring to increase power and to correct for potential bias. In this paper, we propose a further extension of the RC-TDT, called the reconstruction-combined transmission disequilibrium/heterogeneity (RC-TDH test, to take into account the identical-by-descent (IBD sharing information in addition to the LD information. It can effectively utilize families with missing or incomplete parental genetic marker information. An application of this proposed method to Genetic Analysis Workshop 14 (GAW14 data sets and extensive simulation studies suggest that this approach may further increase statistical power which is particularly valuable when LD is unknown and/or when some or all PMGs are not available.

  14. Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

    Science.gov (United States)

    Long, Ji-Rong; Zhao, Lan-Juan; Liu, Peng-Yuan; Lu, Yan; Dvornyk, Volodymyr; Shen, Hui; Liu, Yong-Jun; Zhang, Yuan-Yuan; Xiong, Dong-Hai; Xiao, Peng; Deng, Hong-Wen

    2004-05-24

    The adequacy of association studies for complex diseases depends critically on the existence of linkage disequilibrium (LD) between functional alleles and surrounding SNP markers. We examined the patterns of LD and haplotype distribution in eight candidate genes for osteoporosis and/or obesity using 31 SNPs in 1,873 subjects. These eight genes are apolipoprotein E (APOE), type I collagen alpha1 (COL1A1), estrogen receptor-alpha (ER-alpha), leptin receptor (LEPR), parathyroid hormone (PTH)/PTH-related peptide receptor type 1 (PTHR1), transforming growth factor-beta1 (TGF-beta1), uncoupling protein 3 (UCP3), and vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR). Yin yang haplotypes, two high-frequency haplotypes composed of completely mismatching SNP alleles, were examined. To quantify LD patterns, two common measures of LD, D' and r2, were calculated for the SNPs within the genes. The haplotype distribution varied in the different genes. Yin yang haplotypes were observed only in PTHR1 and UCP3. D' ranged from 0.020 to 1.000 with the average of 0.475, whereas the average r2 was 0.158 (ranging from 0.000 to 0.883). A decay of LD was observed as the intermarker distance increased, however, there was a great difference in LD characteristics of different genes or even in different regions within gene. The differences in haplotype distributions and LD patterns among the genes underscore the importance of characterizing genomic regions of interest prior to association studies.

  15. Canonical Single Nucleotide Polymorphisms (SNPs for High-Resolution Subtyping of Shiga-Toxin Producing Escherichia coli (STEC O157:H7.

    Directory of Open Access Journals (Sweden)

    Sean M Griffing

    Full Text Available The objective of this study was to develop a canonical, parsimoniously-informative SNP panel for subtyping Shiga-toxin producing Escherichia coli (STEC O157:H7 that would be consistent with epidemiological, PFGE, and MLVA clustering of human specimens. Our group had previously identified 906 putative discriminatory SNPs, which were pared down to 391 SNPs based on their prevalence in a test set. The 391 SNPs were screened using a high-throughput form of TaqMan PCR against a set of clinical isolates that represent the most diverse collection of O157:H7 isolates from outbreaks and sporadic cases examined to date. Another 30 SNPs identified by others were also screened using the same method. Two additional targets were tested using standard TaqMan PCR endpoint analysis. These 423 SNPs were reduced to a 32 SNP panel with the almost the same discriminatory value. While the panel partitioned our diverse set of isolates in a manner that was consistent with epidemiological data and PFGE and MLVA phylogenies, it resulted in fewer subtypes than either existing method and insufficient epidemiological resolution in 10 of 47 clusters. Therefore, another round of SNP discovery was undertaken using comparative genomic resequencing of pooled DNA from the 10 clusters with insufficient resolution. This process identified 4,040 potential SNPs and suggested one of the ten clusters was incorrectly grouped. After its removal, there were 2,878 SNPs, of which only 63 were previously identified and 438 occurred across multiple clusters. Among highly clonal bacteria like STEC O157:H7, linkage disequilibrium greatly limits the number of parsimoniously informative SNPs. Therefore, it is perhaps unsurprising that our panel accounted for the potential discriminatory value of numerous other SNPs reported in the literature. We concluded published O157:H7 SNPs are insufficient for effective epidemiological subtyping. However, the 438 multi-cluster SNPs we identified may provide

  16. A Mismatch EndoNuclease Array-Based Methodology (MENA) for Identifying Known SNPs or Novel Point Mutations.

    Science.gov (United States)

    Comeron, Josep M; Reed, Jordan; Christie, Matthew; Jacobs, Julia S; Dierdorff, Jason; Eberl, Daniel F; Manak, J Robert

    2016-04-05

    Accurate and rapid identification or confirmation of single nucleotide polymorphisms (SNPs), point mutations and other human genomic variation facilitates understanding the genetic basis of disease. We have developed a new methodology (called MENA (Mismatch EndoNuclease Array)) pairing DNA mismatch endonuclease enzymology with tiling microarray hybridization in order to genotype both known point mutations (such as SNPs) as well as identify previously undiscovered point mutations and small indels. We show that our assay can rapidly genotype known SNPs in a human genomic DNA sample with 99% accuracy, in addition to identifying novel point mutations and small indels with a false discovery rate as low as 10%. Our technology provides a platform for a variety of applications, including: (1) genotyping known SNPs as well as confirming newly discovered SNPs from whole genome sequencing analyses; (2) identifying novel point mutations and indels in any genomic region from any organism for which genome sequence information is available; and (3) screening panels of genes associated with particular diseases and disorders in patient samples to identify causative mutations. As a proof of principle for using MENA to discover novel mutations, we report identification of a novel allele of the beethoven (btv) gene in Drosophila, which encodes a ciliary cytoplasmic dynein motor protein important for auditory mechanosensation.

  17. Confirmation and fine-mapping of clinical mastitis and somatic cell score QTL in Nordic Holstein cattle

    DEFF Research Database (Denmark)

    Sahana, Goutam; Guldbrandtsen, Bernt; Thomsen, Bo

    2013-01-01

    observed on bovine autosomes 6, 13, 14 and 20. Possible candidate genes for these QTL were identified. Identification of SNPs in linkage disequilibrium with QTL will enable marker-based selection for mastitis resistance. The candidate genes identified should be further studied to detect candidate......A genome-wide association study of 2098 progeny-tested Nordic Holstein bulls genotyped for 36 387 SNPs on 29 autosomes was conducted to confirm and fine-map quantitative trait loci (QTL) for mastitis traits identified earlier using linkage analysis with sparse microsatellite markers in the same...... population. We used linear mixed model analysis where a polygenic genetic effect was fitted as a random effect and single SNPs were successively included as fixed effects in the model. We detected 143 SNP-by-trait significant associations (P mastitis-related traits...

  18. GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians.

    Science.gov (United States)

    Liu, Jiewei; Li, Ming; Su, Bing

    2016-12-01

    Genome-wide association studies (GWASs) have identified multiple schizophrenia (SCZ) risk variants for samples of European and East Asian descent, but most of the identified susceptibility variants are population-specific to either Europeans or East Asians. This strong genetic heterogeneity suggests that differential population histories may play a role in SCZ susceptibility. Here, we explored this possibility by examining the allele frequency divergence of 136 previously reported genome-wide SCZ risk SNPs between European and East Asian populations. Our results showed that two SNPs (rs11038167 and rs11038172) at TSPAN18, reported as genome-wide significant SCZ risk variants in Han Chinese, were entirely monomorphic in Europeans, indicating a deep between-population divergence at this gene locus. To explore the evolutionary history of TSPAN18 in East Asians, we conducted population genetic analyses including multiple neutrality tests, the haplotype-based iHS and EHH tests, as well as haplotype bifurcation map and network constructions. We found that the protective allele of rs11038172 (G allele) had a long extended haplotype with much slower decay compared to the A allele. The star-like shape of the G-allele-carrying haplotypes indicates a recent enrichment in East Asians. Together, the evidences suggest that the protective allele of rs11038172 has experienced recent Darwinian positive selection in East Asians. These findings provide new insights that may help explain the strong genetic heterogeneity in SCZ risk and previous inconsistent association results for SCZ among both Europeans and East Asians. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. The association between individual SNPs or haplotypes of matrix metalloproteinase 1 and gastric cancer susceptibility, progression and prognosis.

    Directory of Open Access Journals (Sweden)

    Yong-Xi Song

    Full Text Available BACKGROUND: The single nucleotide polymorphisms (SNPs in matrix metalloproteinase 1(MMP-1 play important roles in some cancers. This study examined the associations between individual SNPs or haplotypes in MMP-1 and susceptibility, clinicopathological parameters and prognosis of gastric cancer in a large sample of the Han population in northern China. METHODS: In this case-controlled study, there were 404 patients with gastric cancer and 404 healthy controls. Seven SNPs were genotyped using the MALDI-TOF MS system. Then, SPSS software, Haploview 4.2 software, Haplo.states software and THEsias software were used to estimate the association between individual SNPs or haplotypes of MMP-1 and gastric cancer susceptibility, progression and prognosis. RESULTS: Among seven SNPs, there were no individual SNPs correlated to gastric cancer risk. Moreover, only the rs470206 genotype had a correlation with histologic grades, and the patients with GA/AA had well cell differentiation compared to the patients with genotype GG (OR=0.573; 95%CI: 0.353-0.929; P=0.023. Then, we constructed a four-marker haplotype block that contained 4 common haplotypes: TCCG, GCCG, TTCG and TTTA. However, all four common haplotypes had no correlation with gastric cancer risk and we did not find any relationship between these haplotypes and clinicopathological parameters in gastric cancer. Furthermore, neither individual SNPs nor haplotypes had an association with the survival of patients with gastric cancer. CONCLUSIONS: This study evaluated polymorphisms of the MMP-1 gene in gastric cancer with a MALDI-TOF MS method in a large northern Chinese case-controlled cohort. Our results indicated that these seven SNPs of MMP-1 might not be useful as significant markers to predict gastric cancer susceptibility, progression or prognosis, at least in the Han population in northern China.

  20. Demand dynamic bio-girdling in heart failure: improved