Changing the precision of preschoolers’ approximate number system representations changes their symbolic math performance

Science.gov (United States)

Wang, Jinjing (Jenny); Odic, Darko; Halberda, Justin; Feigenson, Lisa

2016-01-01

From early in life, humans have access to an Approximate Number System (ANS) that supports an intuitive sense of numerical quantity. Previous work in both children and adults suggests that individual differences in the precision of ANS representations correlate with symbolic math performance. However, this work has been almost entirely correlational in nature. Here we tested for a causal link between ANS precision and symbolic math performance by asking whether a temporary modulation of ANS precision changes symbolic math performance. First we replicated a recent finding that 5-year-old children make more precise ANS discriminations when starting with easier trials and gradually progressing to harder ones, compared to the reverse. Next, we show that this brief modulation of ANS precision influenced children’s performance on a subsequent symbolic math task, but not a vocabulary task. In a supplemental experiment we present evidence that children who performed ANS discriminations in a random trial order showed intermediate performance both on the ANS task and the symbolic math task, compared to the children who made ordered discriminations. Thus, our results point to a specific causal link from the ANS to symbolic math performance. PMID:27061668

Changing the precision of preschoolers' approximate number system representations changes their symbolic math performance.

Science.gov (United States)

Wang, Jinjing Jenny; Odic, Darko; Halberda, Justin; Feigenson, Lisa

2016-07-01

From early in life, humans have access to an approximate number system (ANS) that supports an intuitive sense of numerical quantity. Previous work in both children and adults suggests that individual differences in the precision of ANS representations correlate with symbolic math performance. However, this work has been almost entirely correlational in nature. Here we tested for a causal link between ANS precision and symbolic math performance by asking whether a temporary modulation of ANS precision changes symbolic math performance. First, we replicated a recent finding that 5-year-old children make more precise ANS discriminations when starting with easier trials and gradually progressing to harder ones, compared with the reverse. Next, we show that this brief modulation of ANS precision influenced children's performance on a subsequent symbolic math task but not a vocabulary task. In a supplemental experiment, we present evidence that children who performed ANS discriminations in a random trial order showed intermediate performance on both the ANS task and the symbolic math task, compared with children who made ordered discriminations. Thus, our results point to a specific causal link from the ANS to symbolic math performance. Copyright © 2016 Elsevier Inc. All rights reserved.

Precision Medicine in Cancer Treatment

Science.gov (United States)

Precision medicine helps doctors select cancer treatments that are most likely to help patients based on a genetic understanding of their disease. Learn about the promise of precision medicine and the role it plays in cancer treatment.

High Precision Testbed to Evaluate Ethernet Performance for In-Car Networks

DEFF Research Database (Denmark)

Revsbech, Kasper; Madsen, Tatiana Kozlova; Schiøler, Henrik

2012-01-01

Validating safety-critical real-time systems such as in-car networks often involves a model-based performance analysis of the network. An important issue performing such analysis is to provide precise model parameters, matching the actual equipment. One way to obtain such parameters is to derive...... them by measurements of the equipment. In this work we describe the design of a testbed enabling active measurements on up to 1 [Gb=Sec] Copper based Ethernet Switches. By use of the testbed it self, we conduct a series of tests where the precision of the testbed is estimated. We find a maximum error...

High-precision genetic mapping of behavioral traits in the diversity outbred mouse population

Science.gov (United States)

Logan, R W; Robledo, R F; Recla, J M; Philip, V M; Bubier, J A; Jay, J J; Harwood, C; Wilcox, T; Gatti, D M; Bult, C J; Churchill, G A; Chesler, E J

2013-01-01

Historically our ability to identify genetic variants underlying complex behavioral traits in mice has been limited by low mapping resolution of conventional mouse crosses. The newly developed Diversity Outbred (DO) population promises to deliver improved resolution that will circumvent costly fine-mapping studies. The DO is derived from the same founder strains as the Collaborative Cross (CC), including three wild-derived strains. Thus the DO provides more allelic diversity and greater potential for discovery compared to crosses involving standard mouse strains. We have characterized 283 male and female DO mice using open-field, light–dark box, tail-suspension and visual-cliff avoidance tests to generate 38 behavioral measures. We identified several quantitative trait loci (QTL) for these traits with support intervals ranging from 1 to 3 Mb in size. These intervals contain relatively few genes (ranging from 5 to 96). For a majority of QTL, using the founder allelic effects together with whole genome sequence data, we could further narrow the positional candidates. Several QTL replicate previously published loci. Novel loci were also identified for anxiety- and activity-related traits. Half of the QTLs are associated with wild-derived alleles, confirming the value to behavioral genetics of added genetic diversity in the DO. In the presence of wild-alleles we sometimes observe behaviors that are qualitatively different from the expected response. Our results demonstrate that high-precision mapping of behavioral traits can be achieved with moderate numbers of DO animals, representing a significant advance in our ability to leverage the mouse as a tool for behavioral genetics PMID:23433259

NCI Precision Medicine

Science.gov (United States)

This illustration represents the National Cancer Institute’s support of research to improve precision medicine in cancer treatment, in which unique therapies treat an individual’s cancer based on specific genetic abnormalities of that person’s tumor.

Argument-predicate distance as a filter for enhancing precision in extracting predications on the genetic etiology of disease

Directory of Open Access Journals (Sweden)

Lang François-Michel

2006-06-01

Full Text Available Abstract Background Genomic functional information is valuable for biomedical research. However, such information frequently needs to be extracted from the scientific literature and structured in order to be exploited by automatic systems. Natural language processing is increasingly used for this purpose although it inherently involves errors. A postprocessing strategy that selects relations most likely to be correct is proposed and evaluated on the output of SemGen, a system that extracts semantic predications on the etiology of genetic diseases. Based on the number of intervening phrases between an argument and its predicate, we defined a heuristic strategy to filter the extracted semantic relations according to their likelihood of being correct. We also applied this strategy to relations identified with co-occurrence processing. Finally, we exploited postprocessed SemGen predications to investigate the genetic basis of Parkinson's disease. Results The filtering procedure for increased precision is based on the intuition that arguments which occur close to their predicate are easier to identify than those at a distance. For example, if gene-gene relations are filtered for arguments at a distance of 1 phrase from the predicate, precision increases from 41.95% (baseline to 70.75%. Since this proximity filtering is based on syntactic structure, applying it to the results of co-occurrence processing is useful, but not as effective as when applied to the output of natural language processing. In an effort to exploit SemGen predications on the etiology of disease after increasing precision with postprocessing, a gene list was derived from extracted information enhanced with postprocessing filtering and was automatically annotated with GFINDer, a Web application that dynamically retrieves functional and phenotypic information from structured biomolecular resources. Two of the genes in this list are likely relevant to Parkinson's disease but are not

Laser performance upgrade for precise ICF experiment in SG-Ⅲ laser facility

Directory of Open Access Journals (Sweden)

Wanguo Zheng

2017-09-01

Full Text Available The SG-Ⅲ laser facility (SG-Ⅲ is the largest laser driver for inertial confinement fusion (ICF researches in China, which has 48 beamlines and can deliver 180 kJ ultraviolet laser energy in 3 ns. In order to meet the requirements of precise physics experiments, some new functionalities need to be added to SG-Ⅲ and some intrinsic laser performances need upgrade. So at the end of SG-Ⅲ's engineering construction, the 2-year laser performance upgrade project started. This paper will introduce the newly added functionalities and the latest laser performance of SG-Ⅲ. With these function extensions and performance upgrade, SG-Ⅲ is now fully prepared for precise ICF experiments and solidly paves the way towards fusion ignition.

Precision Medicine in Cardiovascular Diseases

Directory of Open Access Journals (Sweden)

Yan Liu

2017-02-01

Full Text Available Since President Obama announced the Precision Medicine Initiative in the United States, more and more attention has been paid to precision medicine. However, clinicians have already used it to treat conditions such as cancer. Many cardiovascular diseases have a familial presentation, and genetic variants are associated with the prevention, diagnosis, and treatment of cardiovascular diseases, which are the basis for providing precise care to patients with cardiovascular diseases. Large-scale cohorts and multiomics are critical components of precision medicine. Here we summarize the application of precision medicine to cardiovascular diseases based on cohort and omic studies, and hope to elicit discussion about future health care.

Optimal dynamic performance for high-precision actuators/stages

International Nuclear Information System (INIS)

Preissner, C.; Lee, S.-H.; Royston, T. J.; Shu, D.

2002-01-01

System dynamic performance of actuator/stage groups, such as those found in optical instrument positioning systems and other high-precision applications, is dependent upon both individual component behavior and the system configuration. Experimental modal analysis techniques were implemented to determine the six degree of freedom stiffnesses and damping for individual actuator components. These experimental data were then used in a multibody dynamic computer model to investigate the effect of stage group configuration. Running the computer model through the possible stage configurations and observing the predicted vibratory response determined the optimal stage group configuration. Configuration optimization can be performed for any group of stages, provided there is stiffness and damping data available for the constituent pieces

Cardiovascular Precision Medicine in the Genomics Era

Directory of Open Access Journals (Sweden)

Alexandra M. Dainis, BS

2018-04-01

Full Text Available Summary: Precision medicine strives to delineate disease using multiple data sources—from genomics to digital health metrics—in order to be more precise and accurate in our diagnoses, definitions, and treatments of disease subtypes. By defining disease at a deeper level, we can treat patients based on an understanding of the molecular underpinnings of their presentations, rather than grouping patients into broad categories with one-size-fits-all treatments. In this review, the authors examine how precision medicine, specifically that surrounding genetic testing and genetic therapeutics, has begun to make strides in both common and rare cardiovascular diseases in the clinic and the laboratory, and how these advances are beginning to enable us to more effectively define risk, diagnose disease, and deliver therapeutics for each individual patient. Key Words: genome sequencing, genomics, precision medicine, targeted therapeutics

Precision medicine for nurses: 101.

Science.gov (United States)

Lemoine, Colleen

2014-05-01

To introduce the key concepts and terms associated with precision medicine and support understanding of future developments in the field by providing an overview and history of precision medicine, related ethical considerations, and nursing implications. Current nursing, medical and basic science literature. Rapid progress in understanding the oncogenic drivers associated with cancer is leading to a shift toward precision medicine, where treatment is based on targeting specific genetic and epigenetic alterations associated with a particular cancer. Nurses will need to embrace the paradigm shift to precision medicine, expend the effort necessary to learn the essential terminology, concepts and principles, and work collaboratively with physician colleagues to best position our patients to maximize the potential that precision medicine can offer. Copyright © 2014 Elsevier Inc. All rights reserved.

Robotic Observatory System Design-Specification Considerations for Achieving Long-Term Sustainable Precision Performance

Science.gov (United States)

Wray, J. D.

2003-05-01

The robotic observatory telescope must point precisely on the target object, and then track autonomously to a fraction of the FWHM of the system PSF for durations of ten to twenty minutes or more. It must retain this precision while continuing to function at rates approaching thousands of observations per night for all its years of useful life. These stringent requirements raise new challenges unique to robotic telescope systems design. Critical design considerations are driven by the applicability of the above requirements to all systems of the robotic observatory, including telescope and instrument systems, telescope-dome enclosure systems, combined electrical and electronics systems, environmental (e.g. seeing) control systems and integrated computer control software systems. Traditional telescope design considerations include the effects of differential thermal strain, elastic flexure, plastic flexure and slack or backlash with respect to focal stability, optical alignment and angular pointing and tracking precision. Robotic observatory design must holistically encapsulate these traditional considerations within the overall objective of maximized long-term sustainable precision performance. This overall objective is accomplished through combining appropriate mechanical and dynamical system characteristics with a full-time real-time telescope mount model feedback computer control system. Important design considerations include: identifying and reducing quasi-zero-backlash; increasing size to increase precision; directly encoding axis shaft rotation; pointing and tracking operation via real-time feedback between precision mount model and axis mounted encoders; use of monolithic construction whenever appropriate for sustainable mechanical integrity; accelerating dome motion to eliminate repetitive shock; ducting internal telescope air to outside dome; and the principal design criteria: maximizing elastic repeatability while minimizing slack, plastic deformation

Preschoolers' precision of the approximate number system predicts later school mathematics performance.

Science.gov (United States)

Mazzocco, Michèle M M; Feigenson, Lisa; Halberda, Justin

2011-01-01

The Approximate Number System (ANS) is a primitive mental system of nonverbal representations that supports an intuitive sense of number in human adults, children, infants, and other animal species. The numerical approximations produced by the ANS are characteristically imprecise and, in humans, this precision gradually improves from infancy to adulthood. Throughout development, wide ranging individual differences in ANS precision are evident within age groups. These individual differences have been linked to formal mathematics outcomes, based on concurrent, retrospective, or short-term longitudinal correlations observed during the school age years. However, it remains unknown whether this approximate number sense actually serves as a foundation for these school mathematics abilities. Here we show that ANS precision measured at preschool, prior to formal instruction in mathematics, selectively predicts performance on school mathematics at 6 years of age. In contrast, ANS precision does not predict non-numerical cognitive abilities. To our knowledge, these results provide the first evidence for early ANS precision, measured before the onset of formal education, predicting later mathematical abilities.

Optimizing top precision performance measure of content-based image retrieval by learning similarity function

KAUST Repository

Liang, Ru-Ze

2017-04-24

In this paper we study the problem of content-based image retrieval. In this problem, the most popular performance measure is the top precision measure, and the most important component of a retrieval system is the similarity function used to compare a query image against a database image. However, up to now, there is no existing similarity learning method proposed to optimize the top precision measure. To fill this gap, in this paper, we propose a novel similarity learning method to maximize the top precision measure. We model this problem as a minimization problem with an objective function as the combination of the losses of the relevant images ranked behind the top-ranked irrelevant image, and the squared Frobenius norm of the similarity function parameter. This minimization problem is solved as a quadratic programming problem. The experiments over two benchmark data sets show the advantages of the proposed method over other similarity learning methods when the top precision is used as the performance measure.

Optimizing top precision performance measure of content-based image retrieval by learning similarity function

KAUST Repository

Liang, Ru-Ze; Shi, Lihui; Wang, Haoxiang; Meng, Jiandong; Wang, Jim Jing-Yan; Sun, Qingquan; Gu, Yi

2017-01-01

In this paper we study the problem of content-based image retrieval. In this problem, the most popular performance measure is the top precision measure, and the most important component of a retrieval system is the similarity function used to compare a query image against a database image. However, up to now, there is no existing similarity learning method proposed to optimize the top precision measure. To fill this gap, in this paper, we propose a novel similarity learning method to maximize the top precision measure. We model this problem as a minimization problem with an objective function as the combination of the losses of the relevant images ranked behind the top-ranked irrelevant image, and the squared Frobenius norm of the similarity function parameter. This minimization problem is solved as a quadratic programming problem. The experiments over two benchmark data sets show the advantages of the proposed method over other similarity learning methods when the top precision is used as the performance measure.

Precision Medicine: The New Frontier in Idiopathic Pulmonary Fibrosis.

Science.gov (United States)

Brownell, Robert; Kaminski, Naftali; Woodruff, Prescott G; Bradford, Williamson Z; Richeldi, Luca; Martinez, Fernando J; Collard, Harold R

2016-06-01

Precision medicine is defined by the National Institute of Health's Precision Medicine Initiative Working Group as an approach to disease treatment that takes into account individual variability in genes, environment, and lifestyle. There has been increased interest in applying the concept of precision medicine to idiopathic pulmonary fibrosis, in particular to search for genetic and molecular biomarker-based profiles (so called endotypes) that identify mechanistically distinct disease subgroups. The relevance of precision medicine to idiopathic pulmonary fibrosis is yet to be established, but we believe that it holds great promise to provide targeted and highly effective therapies to patients. In this manuscript, we describe the field's nascent efforts in genetic/molecular endotype identification and how environmental and behavioral subgroups may also be relevant to disease management.

Non-genetic factors affecting growth performance and carcass ...

African Journals Online (AJOL)

Bekezela

There is a paucity of information on non-genetic ... herds. These data were obtained from the Integrated Recording and Genetic Information Systems .... performance is determined by muscle fibre characteristics (Larzul et al., 1997), which are ...

Precision manufacturing

CERN Document Server

Dornfeld, David

2008-01-01

Today there is a high demand for high-precision products. The manufacturing processes are now highly sophisticated and derive from a specialized genre called precision engineering. Precision Manufacturing provides an introduction to precision engineering and manufacturing with an emphasis on the design and performance of precision machines and machine tools, metrology, tooling elements, machine structures, sources of error, precision machining processes and precision process planning. As well as discussing the critical role precision machine design for manufacturing has had in technological developments over the last few hundred years. In addition, the influence of sustainable manufacturing requirements in precision processes is introduced. Drawing upon years of practical experience and using numerous examples and illustrative applications, David Dornfeld and Dae-Eun Lee cover precision manufacturing as it applies to: The importance of measurement and metrology in the context of Precision Manufacturing. Th...

Assessing population genetic structure via the maximisation of genetic distance

Directory of Open Access Journals (Sweden)

Toro Miguel A

2009-11-01

Full Text Available Abstract Background The inference of the hidden structure of a population is an essential issue in population genetics. Recently, several methods have been proposed to infer population structure in population genetics. Methods In this study, a new method to infer the number of clusters and to assign individuals to the inferred populations is proposed. This approach does not make any assumption on Hardy-Weinberg and linkage equilibrium. The implemented criterion is the maximisation (via a simulated annealing algorithm of the averaged genetic distance between a predefined number of clusters. The performance of this method is compared with two Bayesian approaches: STRUCTURE and BAPS, using simulated data and also a real human data set. Results The simulations show that with a reduced number of markers, BAPS overestimates the number of clusters and presents a reduced proportion of correct groupings. The accuracy of the new method is approximately the same as for STRUCTURE. Also, in Hardy-Weinberg and linkage disequilibrium cases, BAPS performs incorrectly. In these situations, STRUCTURE and the new method show an equivalent behaviour with respect to the number of inferred clusters, although the proportion of correct groupings is slightly better with the new method. Re-establishing equilibrium with the randomisation procedures improves the precision of the Bayesian approaches. All methods have a good precision for FST ≥ 0.03, but only STRUCTURE estimates the correct number of clusters for FST as low as 0.01. In situations with a high number of clusters or a more complex population structure, MGD performs better than STRUCTURE and BAPS. The results for a human data set analysed with the new method are congruent with the geographical regions previously found. Conclusion This new method used to infer the hidden structure in a population, based on the maximisation of the genetic distance and not taking into consideration any assumption about Hardy

[Progress in precision medicine: a scientific perspective].

Science.gov (United States)

Wang, B; Li, L M

2017-01-10

Precision medicine is a new strategy for disease prevention and treatment by taking into account differences in genetics, environment and lifestyles among individuals and making precise diseases classification and diagnosis, which can provide patients with personalized, targeted prevention and treatment. Large-scale population cohort studies are fundamental for precision medicine research, and could produce best evidence for precision medicine practices. Current criticisms on precision medicine mainly focus on the very small proportion of benefited patients, the neglect of social determinants for health, and the possible waste of limited medical resources. In spite of this, precision medicine is still a most hopeful research area, and would become a health care practice model in the future.

Performance Analysis of Several GPS/Galileo Precise Point Positioning Models.

Science.gov (United States)

Afifi, Akram; El-Rabbany, Ahmed

2015-06-19

This paper examines the performance of several precise point positioning (PPP) models, which combine dual-frequency GPS/Galileo observations in the un-differenced and between-satellite single-difference (BSSD) modes. These include the traditional un-differenced model, the decoupled clock model, the semi-decoupled clock model, and the between-satellite single-difference model. We take advantage of the IGS-MGEX network products to correct for the satellite differential code biases and the orbital and satellite clock errors. Natural Resources Canada's GPSPace PPP software is modified to handle the various GPS/Galileo PPP models. A total of six data sets of GPS and Galileo observations at six IGS stations are processed to examine the performance of the various PPP models. It is shown that the traditional un-differenced GPS/Galileo PPP model, the GPS decoupled clock model, and the semi-decoupled clock GPS/Galileo PPP model improve the convergence time by about 25% in comparison with the un-differenced GPS-only model. In addition, the semi-decoupled GPS/Galileo PPP model improves the solution precision by about 25% compared to the traditional un-differenced GPS/Galileo PPP model. Moreover, the BSSD GPS/Galileo PPP model improves the solution convergence time by about 50%, in comparison with the un-differenced GPS PPP model, regardless of the type of BSSD combination used. As well, the BSSD model improves the precision of the estimated parameters by about 50% and 25% when the loose and the tight combinations are used, respectively, in comparison with the un-differenced GPS-only model. Comparable results are obtained through the tight combination when either a GPS or a Galileo satellite is selected as a reference.

Prenatal screening and genetics

DEFF Research Database (Denmark)

Alderson, P; Aro, A R; Dragonas, T

2001-01-01

Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

Precision Medicine and Men's Health.

Science.gov (United States)

Mata, Douglas A; Katchi, Farhan M; Ramasamy, Ranjith

2017-07-01

Precision medicine can greatly benefit men's health by helping to prevent, diagnose, and treat prostate cancer, benign prostatic hyperplasia, infertility, hypogonadism, and erectile dysfunction. For example, precision medicine can facilitate the selection of men at high risk for prostate cancer for targeted prostate-specific antigen screening and chemoprevention administration, as well as assist in identifying men who are resistant to medical therapy for prostatic hyperplasia, who may instead require surgery. Precision medicine-trained clinicians can also let couples know whether their specific cause of infertility should be bypassed by sperm extraction and in vitro fertilization to prevent abnormalities in their offspring. Though precision medicine's role in the management of hypogonadism has yet to be defined, it could be used to identify biomarkers associated with individual patients' responses to treatment so that appropriate therapy can be prescribed. Last, precision medicine can improve erectile dysfunction treatment by identifying genetic polymorphisms that regulate response to medical therapies and by aiding in the selection of patients for further cardiovascular disease screening.

Gene doping: a review of performance-enhancing genetics.

Science.gov (United States)

Gaffney, Gary R; Parisotto, Robin

2007-08-01

Unethical athletes and their mentors have long arrogated scientific and medical advances to enhance athletic performance, thus gaining a dishonest competitive advantage. Building on advances in genetics, a new threat arises from athletes using gene therapy techniques in the same manner that some abused performance-enhancing drugs were used. Gene doping, as this is known, may produce spectacular physiologic alterations to dramatically enhance athletic abilities or physical appearance. Furthermore, gene doping may present pernicious problems for the regulatory agencies and investigatory laboratories that are entrusted to keep sporting events fair and ethical. Performance-enhanced genetics will likewise present unique challenges to physicians in many spheres of their practice.

Precision orbit determination performance for CryoSat-2

Science.gov (United States)

Schrama, Ernst

2018-01-01

In this paper we discuss our efforts to perform precision orbit determination (POD) of CryoSat-2 which depends on Doppler and satellite laser ranging tracking data. A dynamic orbit model is set-up and the residuals between the model and the tracking data is evaluated. The average r.m.s. of the 10 s averaged Doppler tracking pass residuals is approximately 0.39 mm/s; and the average of the laser tracking pass residuals becomes 1.42 cm. There are a number of other tests to verify the quality of the orbit solution, we compare our computed orbits against three independent external trajectories provided by the CNES. The CNES products are part of the CryoSat-2 products distributed by ESA. The radial differences of our solution relative to the CNES precision orbits shows an average r.m.s. of 1.25 cm between Jun-2010 and Apr-2017. The SIRAL altimeter crossover difference statistics demonstrate that the quality of our orbit solution is comparable to that of the POE solution computed by the CNES. In this paper we will discuss three important changes in our POD activities that have brought the orbit performance to this level. The improvements concern the way we implement temporal gravity accelerations observed by GRACE; the implementation of ITRF2014 coordinates and velocities for the DORIS beacons and the SLR tracking sites. We also discuss an adjustment of the SLR retroreflector position within the satellite reference frame. An unexpected result is that we find a systematic difference between the median of the 10 s Doppler tracking residuals which displays a statistically significant pattern in the South Atlantic Anomaly (SSA) area where the median of the velocity residuals varies in the range of -0.15 to +0.15 mm/s.

Comparison of precision and speed in laparoscopic and robot-assisted surgical task performance.

Science.gov (United States)

Zihni, Ahmed; Gerull, William D; Cavallo, Jaime A; Ge, Tianjia; Ray, Shuddhadeb; Chiu, Jason; Brunt, L Michael; Awad, Michael M

2018-03-01

Robotic platforms have the potential advantage of providing additional dexterity and precision to surgeons while performing complex laparoscopic tasks, especially for those in training. Few quantitative evaluations of surgical task performance comparing laparoscopic and robotic platforms among surgeons of varying experience levels have been done. We compared measures of quality and efficiency of Fundamentals of Laparoscopic Surgery task performance on these platforms in novices and experienced laparoscopic and robotic surgeons. Fourteen novices, 12 expert laparoscopic surgeons (>100 laparoscopic procedures performed, no robotics experience), and five expert robotic surgeons (>25 robotic procedures performed) performed three Fundamentals of Laparoscopic Surgery tasks on both laparoscopic and robotic platforms: peg transfer (PT), pattern cutting (PC), and intracorporeal suturing. All tasks were repeated three times by each subject on each platform in a randomized order. Mean completion times and mean errors per trial (EPT) were calculated for each task on both platforms. Results were compared using Student's t-test (P task performance was slower on the robotic platform compared with laparoscopy. In comparisons of expert laparoscopists performing tasks on the laparoscopic platform and expert robotic surgeons performing tasks on the robotic platform, expert robotic surgeons demonstrated fewer errors during the PC task (P = 0.009). Robotic assistance provided a reduction in errors at all experience levels for some laparoscopic tasks, but no benefit in the speed of task performance. Robotic assistance may provide some benefit in precision of surgical task performance. Copyright © 2017 Elsevier Inc. All rights reserved.

Toward precision medicine in Alzheimer's disease.

Science.gov (United States)

Reitz, Christiane

2016-03-01

In Western societies, Alzheimer's disease (AD) is the most common form of dementia and the sixth leading cause of death. In recent years, the concept of precision medicine, an approach for disease prevention and treatment that is personalized to an individual's specific pattern of genetic variability, environment and lifestyle factors, has emerged. While for some diseases, in particular select cancers and a few monogenetic disorders such as cystic fibrosis, significant advances in precision medicine have been made over the past years, for most other diseases precision medicine is only in its beginning. To advance the application of precision medicine to a wider spectrum of disorders, governments around the world are starting to launch Precision Medicine Initiatives, major efforts to generate the extensive scientific knowledge needed to integrate the model of precision medicine into every day clinical practice. In this article we summarize the state of precision medicine in AD, review major obstacles in its development, and discuss its benefits in this highly prevalent, clinically and pathologically complex disease.

Sports genetics moving forward: lessons learned from medical research.

Science.gov (United States)

Mattsson, C Mikael; Wheeler, Matthew T; Waggott, Daryl; Caleshu, Colleen; Ashley, Euan A

2016-03-01

Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy. Copyright © 2016 the American Physiological Society.

Developing precision medicine for people of East Asian descent.

Science.gov (United States)

McAllister, Stacy L; Sun, Katherine; Gross, Eric R

2016-11-11

The goal of precision medicine is to separate patient populations into groups to ultimately provide customized care tailored to patients. In terms of precision medicine, ~540 million people in the world have a genetic variant of the aldehyde dehydrogenase 2 (ALDH2) enzyme causing a flushing response and tachycardia after alcohol consumption. The genetic variant is identified as ALDH2*2 and originates from East Asian descendants of the Han Chinese. The variant is particularly important to consider when discussing lifestyle choices with patients in terms of risk for developing specific diseases, preventative screening, and selection of medications for treatment. Here we provide examples why patients with an ALDH2*2 variant need more individualized medical management which is becoming a more standard practice in the precision medicine era.

Evaluation of the Precision ID Ancestry Panel for crime case work

DEFF Research Database (Denmark)

Pereira, Vania; Mogensen, Helle S; Børsting, Claus

2017-01-01

The application of massive parallel sequencing (MPS) methodologies in forensic genetics is promising and it is gradually being implemented in forensic genetic case work. One of the major advantages of these technologies is that several traditional electrophoresis assays can be combined into one...... single MPS assay. This reduces both the amount of sample used and the time of the investigations. This study assessed the utility of the Precision ID Ancestry Panel (Thermo Fisher Scientific, Waltham, USA) in forensic genetics. This assay was developed for the Ion Torrent PGM™ System and genotypes 165...... ancestry informative SNPs. The performance of the assay and the accompanying software solution for ancestry inference was assessed by typing 142 Danes and 98 Somalis. Locus balance, heterozygote balance, and noise levels were calculated and future analysis criteria for crime case work were estimated...

Personalized or Precision Medicine? The Example of Cystic Fibrosis

Science.gov (United States)

Marson, Fernando A. L.; Bertuzzo, Carmen S.; Ribeiro, José D.

2017-01-01

The advent of the knowledge on human genetics, by the identification of disease-associated variants, culminated in the understanding of human variability. With the genetic knowledge, the specificity of the clinical phenotype and the drug response of each individual were understood. Using the cystic fibrosis (CF) as an example, the new terms that emerged such as personalized medicine and precision medicine can be characterized. The genetic knowledge in CF is broad and the presence of a monogenic disease caused by mutations in the CFTR gene enables the phenotype–genotype association studies (including the response to drugs), considering the wide clinical and laboratory spectrum dependent on the mutual action of genotype, environment, and lifestyle. Regarding the CF disease, personalized medicine is the treatment directed at the symptoms, and this treatment is adjusted depending on the patient’s phenotype. However, more recently, the term precision medicine began to be widely used, although its correct application and understanding are still vague and poorly characterized. In precision medicine, we understand the individual as a response to the interrelation between environment, lifestyle, and genetic factors, which enabled the advent of new therapeutic models, such as conventional drugs adjustment by individual patient dosage and drug type and response, development of new drugs (read through, broker, enhancer, stabilizer, and amplifier compounds), genome editing by homologous recombination, zinc finger nucleases, TALEN (transcription activator-like effector nuclease), CRISPR-Cas9 (clustered regularly interspaced short palindromic repeats-CRISPR-associated endonuclease 9), and gene therapy. Thus, we introduced the terms personalized medicine and precision medicine based on the CF. PMID:28676762

Precision Pulse Capsulotomy: Preclinical Safety and Performance of a New Capsulotomy Technology.

Science.gov (United States)

Chang, David F; Mamalis, Nick; Werner, Liliana

2016-02-01

To assess the preclinical safety and performance of a new precision pulse capsulotomy (PPC) method. Human cadaver eye studies and surgical, slit-lamp, and histopathologic evaluation in a consecutive series of 20 live rabbits. Human cadaver eyes and New Zealand white rabbits. Precision pulse capsulotomy uses a highly focused, fast, multipulse, low-energy discharge to produce a perfectly round anterior capsulotomy instantaneously and simultaneously along all 360°. Capsulotomies are performed using a disposable handpiece with a soft collapsible tip and circular nitinol cutting element. Miyake-Apple imaging and scanning electron microscopy (SEM) of PPC were conducted in human cadaver eyes. Surgical, postoperative slit-lamp, and histopathologic assessments of PPC were performed in 20 live rabbits and were compared with manual continuous curvilinear capsulorrhexis (CCC) in the fellow eye. Anterior chamber (AC) thermocouple temperature measurements were evaluated in a subset of rabbit eyes. Capsulotomy edge circularity, SEM morphologic features and zonular movement with PPC in human cadaver eyes. Anterior chamber temperature during PPC and grading of ocular inflammation, corneal endothelial damage, anterior capsular opacification (ACO), and posterior capsular opacification (PCO). Miyake-Apple imaging showed minimal zonular stress, and thermocouple measurements demonstrated negligible AC temperature changes during PPC. Precision pulse capsulotomy produced round, complete capsulotomies in all 20 rabbit eyes, leading to successful in-the-bag intraocular lens (IOL) implantation. Slit-lamp examinations at 3 days and 1, 2, and 4 weeks after surgery showed no significant differences between PPC and CCC in corneal edema, AC inflammatory reaction, capsular fibrosis, ACO, and PCO. Postmortem studies showed no difference in the corneal endothelium between PPC and CCC eyes. All IOLs were well centered in PPC eyes, and histopathologic analysis showed no greater inflammatory

Management intensity and genetics affect loblolly pine seedling performance

Science.gov (United States)

Scott D. Roberts; Randall J. Rousseau; B. Landis Herrin

2012-01-01

Capturing potential genetic gains from tree improvement programs requires selection of the appropriate genetic stock and application of appropriate silvicultural management techniques. Limited information is available on how specific loblolly pine varietal genotypes perform under differing growing environments and management approaches. This study was established in...

Genetic conditions of joint Nordic genetic evaluations of lifetime competition performance in warmblood sport horses.

Science.gov (United States)

Viklund, Å; Furre, S; Eriksson, S; Vangen, O; Philipsson, J

2015-08-01

Breeding programmes for warmblood sport horses are similar in the Nordic countries Sweden, Denmark, Finland and Norway, and stallions of same origin are used. The aim was to investigate whether a joint Nordic genetic evaluation based on lifetime competition performance is feasible and beneficial for breeding competitive sport horses in the Nordic countries. Results for almost 45,000 horses in show jumping and 30,000 horses in dressage were available. The larger populations in Sweden and Denmark contributed with 85% of the results. Heritabilities and genetic correlations between performances in the different countries were estimated, and comparisons of accuracies of estimated breeding values (EBVs) and number of stallions with EBVs based on national or joint data were studied. The heritabilities ranged between 0.25 and 0.42 for show jumping and between 0.14 and 0.55 for dressage. The genetic correlations between competition performances in the Nordic countries were estimated to 0.63-1.00. EBVs based on joint data increased accuracies for EBVs for stallions by 38-81% and increased the number of available stallions with EBVs by 40-288%, compared to EBVs based on national data only. A joint Nordic genetic evaluation for sport horses is recommended. © 2015 Blackwell Verlag GmbH.

Precision medicine in breast cancer: reality or utopia?

Science.gov (United States)

Bettaieb, Ali; Paul, Catherine; Plenchette, Stéphanie; Shan, Jingxuan; Chouchane, Lotfi; Ghiringhelli, François

2017-06-17

Many cancers, including breast cancer, have demonstrated prognosis and support advantages thanks to the discovery of targeted therapies. The advent of these new approaches marked the rise of precision medicine, which leads to improve the diagnosis, prognosis and treatment of cancer. Precision medicine takes into account the molecular and biological specificities of the patient and their tumors that will influence the treatment determined by physicians. This new era of medicine is accessible through molecular genetics platforms, the development of high-speed sequencers and means of analysis of these data. Despite the spectacular results in the treatment of cancers including breast cancer, described in this review, not all patients however can benefit from this new strategy. This seems to be related to the many genetic mutations, which may be different from one patient to another or within the same patient. It comes to give new impetus to the research-both from a technological and biological point of view-to make the hope of precision medicine accessible to all.

TRACEABILITY OF PRECISION MEASUREMENTS ON COORDINATE MEASURING MACHINES – PERFORMANCE VERIFICATION OF CMMs

DEFF Research Database (Denmark)

De Chiffre, Leonardo; Sobiecki, René; Tosello, Guido

This document is used in connection with one exercise of 30 minutes duration as a part of the course VISION ONLINE – One week course on Precision & Nanometrology. The exercise concerns performance verification of the volumetric measuring capability of a small volume coordinate measuring machine...

Tendency for interlaboratory precision in the GMO analysis method based on real-time PCR.

Science.gov (United States)

Kodama, Takashi; Kurosawa, Yasunori; Kitta, Kazumi; Naito, Shigehiro

2010-01-01

The Horwitz curve estimates interlaboratory precision as a function only of concentration, and is frequently used as a method performance criterion in food analysis with chemical methods. The quantitative biochemical methods based on real-time PCR require an analogous criterion to progressively promote method validation. We analyzed the tendency of precision using a simplex real-time PCR technique in 53 collaborative studies of seven genetically modified (GM) crops. Reproducibility standard deviation (SR) and repeatability standard deviation (Sr) of the genetically modified organism (GMO) amount (%) was more or less independent of GM crops (i.e., maize, soybean, cotton, oilseed rape, potato, sugar beet, and rice) and evaluation procedure steps. Some studies evaluated whole steps consisting of DNA extraction and PCR quantitation, whereas others focused only on the PCR quantitation step by using DNA extraction solutions. Therefore, SR and Sr for GMO amount (%) are functions only of concentration similar to the Horwitz curve. We proposed S(R) = 0.1971C 0.8685 and S(r) = 0.1478C 0.8424, where C is the GMO amount (%). We also proposed a method performance index in GMO quantitative methods that is analogous to the Horwitz Ratio.

µ-Calpain (CAPN1), calpastatin (CAST), and growth hormone receptor (GHR) genetic effects on Angus beef heifer performance traits and reproduction

Science.gov (United States)

Genetic marker effects and type of inheritance are estimated with poor precision when minor marker allele frequencies are low. An Angus population was subjected to marker assisted selection for multiple years to equalize CAPN1 haplotypes, CAST, and GHR genetic marker frequencies. The objective was t...

Precision Medicine, Cardiovascular Disease and Hunting Elephants.

Science.gov (United States)

Joyner, Michael J

2016-01-01

Precision medicine postulates improved prediction, prevention, diagnosis and treatment of disease based on patient specific factors especially DNA sequence (i.e., gene) variants. Ideas related to precision medicine stem from the much anticipated "genetic revolution in medicine" arising seamlessly from the human genome project (HGP). In this essay I deconstruct the concept of precision medicine and raise questions about the validity of the paradigm in general and its application to cardiovascular disease. Thus far precision medicine has underperformed based on the vision promulgated by enthusiasts. While niche successes for precision medicine are likely, the promises of broad based transformation should be viewed with skepticism. Open discussion and debate related to precision medicine are urgently needed to avoid misapplication of resources, hype, iatrogenic interventions, and distraction from established approaches with ongoing utility. Failure to engage in such debate will lead to negative unintended consequences from a revolution that might never come. Copyright © 2016 Elsevier Inc. All rights reserved.

What is precision medicine?

Science.gov (United States)

König, Inke R; Fuchs, Oliver; Hansen, Gesine; von Mutius, Erika; Kopp, Matthias V

2017-10-01

The term "precision medicine" has become very popular over recent years, fuelled by scientific as well as political perspectives. Despite its popularity, its exact meaning, and how it is different from other popular terms such as "stratified medicine", "targeted therapy" or "deep phenotyping" remains unclear. Commonly applied definitions focus on the stratification of patients, sometimes referred to as a novel taxonomy, and this is derived using large-scale data including clinical, lifestyle, genetic and further biomarker information, thus going beyond the classical "signs-and-symptoms" approach.While these aspects are relevant, this description leaves open a number of questions. For example, when does precision medicine begin? In which way does the stratification of patients translate into better healthcare? And can precision medicine be viewed as the end-point of a novel stratification of patients, as implied, or is it rather a greater whole?To clarify this, the aim of this paper is to provide a more comprehensive definition that focuses on precision medicine as a process. It will be shown that this proposed framework incorporates the derivation of novel taxonomies and their role in healthcare as part of the cycle, but also covers related terms. Copyright ©ERS 2017.

Evaluation of the Precision ID Ancestry Panel for crime case work: A SNP typing assay developed for typing of 165 ancestral informative markers.

Science.gov (United States)

Pereira, Vania; Mogensen, Helle S; Børsting, Claus; Morling, Niels

2017-05-01

The application of massive parallel sequencing (MPS) methodologies in forensic genetics is promising and it is gradually being implemented in forensic genetic case work. One of the major advantages of these technologies is that several traditional electrophoresis assays can be combined into one single MPS assay. This reduces both the amount of sample used and the time of the investigations. This study assessed the utility of the Precision ID Ancestry Panel (Thermo Fisher Scientific, Waltham, USA) in forensic genetics. This assay was developed for the Ion Torrent PGM™ System and genotypes 165 ancestry informative SNPs. The performance of the assay and the accompanying software solution for ancestry inference was assessed by typing 142 Danes and 98 Somalis. Locus balance, heterozygote balance, and noise levels were calculated and future analysis criteria for crime case work were estimated. Overall, the Precision ID Ancestry Panel performed well, and only minor changes to the recommended protocol were implemented. Three out of the 165 loci (rs459920, rs7251928, and rs7722456) had consistently poor performance, mainly due to misalignment of homopolymeric stretches. We suggest that these loci should be excluded from the analyses. The different statistical methods for reporting ancestry in forensic genetic case work are discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

A Road Map for Precision Medicine in the Epilepsies

Science.gov (United States)

2015-01-01

Summary Technological advances have paved the way for accelerated genomic discovery and are bringing precision medicine clearly into view. Epilepsy research in particular is well-suited to serve as a model for the development and deployment of targeted therapeutics in precision medicine because of the rapidly expanding genetic knowledge base in epilepsy, the availability of good in vitro and in vivo model systems to efficiently study the biological consequences of genetic mutations, the ability to turn these models into effective drug screening platforms, and the establishment of collaborative research groups. Moving forward, it is critical that we strengthen these collaborations, particularly through integrated research platforms to provide robust analyses both for accurate personal genome analysis and gene and drug discovery. Similarly, the implementation of clinical trial networks will allow the expansion of patient sample populations with genetically defined epilepsy so that drug discovery can be translated into clinical practice. PMID:26416172

Rapid whole genome sequencing and precision neonatology.

Science.gov (United States)

Petrikin, Joshua E; Willig, Laurel K; Smith, Laurie D; Kingsmore, Stephen F

2015-12-01

Traditionally, genetic testing has been too slow or perceived to be impractical to initial management of the critically ill neonate. Technological advances have led to the ability to sequence and interpret the entire genome of a neonate in as little as 26 h. As the cost and speed of testing decreases, the utility of whole genome sequencing (WGS) of neonates for acute and latent genetic illness increases. Analyzing the entire genome allows for concomitant evaluation of the currently identified 5588 single gene diseases. When applied to a select population of ill infants in a level IV neonatal intensive care unit, WGS yielded a diagnosis of a causative genetic disease in 57% of patients. These diagnoses may lead to clinical management changes ranging from transition to palliative care for uniformly lethal conditions for alteration or initiation of medical or surgical therapy to improve outcomes in others. Thus, institution of 2-day WGS at time of acute presentation opens the possibility of early implementation of precision medicine. This implementation may create opportunities for early interventional, frequently novel or off-label therapies that may alter disease trajectory in infants with what would otherwise be fatal disease. Widespread deployment of rapid WGS and precision medicine will raise ethical issues pertaining to interpretation of variants of unknown significance, discovery of incidental findings related to adult onset conditions and carrier status, and implementation of medical therapies for which little is known in terms of risks and benefits. Despite these challenges, precision neonatology has significant potential both to decrease infant mortality related to genetic diseases with onset in newborns and to facilitate parental decision making regarding transition to palliative care. Copyright © 2015 Elsevier Inc. All rights reserved.

Precision Medicine and the Changing Landscape of Research Ethics.

Science.gov (United States)

Hammer, Marilyn J

2016-03-01

President Barack Obama announced the launch of the National Institutes of Health Precision Medicine Initiative® (PMI) in January 2015. Precision medicine includes the concept of individualized or personalized medicine at a more exact level through advances in science and technology, such as genetics and genomics sequencing. Although many disease processes will be investigated through the precision medicine lens for greater understanding and improved treatment responses, oncology research and translation to practice is leading the initiative's debut, referred to as the near-term focus.

Metabolomics through the lens of precision cardiovascular medicine.

Science.gov (United States)

Lam, Sin Man; Wang, Yuan; Li, Bowen; Du, Jie; Shui, Guanghou

2017-03-20

Metabolomics, which targets at the extensive characterization and quantitation of global metabolites from both endogenous and exogenous sources, has emerged as a novel technological avenue to advance the field of precision medicine principally driven by genomics-oriented approaches. In particular, metabolomics has revealed the cardinal roles that the environment exerts in driving the progression of major diseases threatening public health. Herein, the existent and potential applications of metabolomics in two key areas of precision cardiovascular medicine will be critically discussed: 1) the use of metabolomics in unveiling novel disease biomarkers and pathological pathways; 2) the contribution of metabolomics in cardiovascular drug development. Major issues concerning the statistical handling of big data generated by metabolomics, as well as its interpretation, will be briefly addressed. Finally, the need for integration of various omics branches and adopting a multi-omics approach to precision medicine will be discussed. Copyright © 2017 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.

Precision Orbit Derived Atmospheric Density: Development and Performance

Science.gov (United States)

McLaughlin, C.; Hiatt, A.; Lechtenberg, T.; Fattig, E.; Mehta, P.

2012-09-01

Precision orbit ephemerides (POE) are used to estimate atmospheric density along the orbits of CHAMP (Challenging Minisatellite Payload) and GRACE (Gravity Recovery and Climate Experiment). The densities are calibrated against accelerometer derived densities and considering ballistic coefficient estimation results. The 14-hour density solutions are stitched together using a linear weighted blending technique to obtain continuous solutions over the entire mission life of CHAMP and through 2011 for GRACE. POE derived densities outperform the High Accuracy Satellite Drag Model (HASDM), Jacchia 71 model, and NRLMSISE-2000 model densities when comparing cross correlation and RMS with accelerometer derived densities. Drag is the largest error source for estimating and predicting orbits for low Earth orbit satellites. This is one of the major areas that should be addressed to improve overall space surveillance capabilities; in particular, catalog maintenance. Generally, density is the largest error source in satellite drag calculations and current empirical density models such as Jacchia 71 and NRLMSISE-2000 have significant errors. Dynamic calibration of the atmosphere (DCA) has provided measurable improvements to the empirical density models and accelerometer derived densities of extremely high precision are available for a few satellites. However, DCA generally relies on observations of limited accuracy and accelerometer derived densities are extremely limited in terms of measurement coverage at any given time. The goal of this research is to provide an additional data source using satellites that have precision orbits available using Global Positioning System measurements and/or satellite laser ranging. These measurements strike a balance between the global coverage provided by DCA and the precise measurements of accelerometers. The temporal resolution of the POE derived density estimates is around 20-30 minutes, which is significantly worse than that of accelerometer

The Future of Precision Medicine in Oncology.

Science.gov (United States)

Millner, Lori M; Strotman, Lindsay N

2016-09-01

Precision medicine in oncology focuses on identifying which therapies are most effective for each patient based on genetic characterization of the cancer. Traditional chemotherapy is cytotoxic and destroys all cells that are rapidly dividing. The foundation of precision medicine is targeted therapies and selecting patients who will benefit most from these therapies. One of the newest aspects of precision medicine is liquid biopsy. A liquid biopsy includes analysis of circulating tumor cells, cell-free nucleic acid, or exosomes obtained from a peripheral blood draw. These can be studied individually or in combination and collected serially, providing real-time information as a patient's cancer changes. Copyright © 2016 Elsevier Inc. All rights reserved.

Nanomaterials for Cancer Precision Medicine.

Science.gov (United States)

Wang, Yilong; Sun, Shuyang; Zhang, Zhiyuan; Shi, Donglu

2018-04-01

Medical science has recently advanced to the point where diagnosis and therapeutics can be carried out with high precision, even at the molecular level. A new field of "precision medicine" has consequently emerged with specific clinical implications and challenges that can be well-addressed by newly developed nanomaterials. Here, a nanoscience approach to precision medicine is provided, with a focus on cancer therapy, based on a new concept of "molecularly-defined cancers." "Next-generation sequencing" is introduced to identify the oncogene that is responsible for a class of cancers. This new approach is fundamentally different from all conventional cancer therapies that rely on diagnosis of the anatomic origins where the tumors are found. To treat cancers at molecular level, a recently developed "microRNA replacement therapy" is applied, utilizing nanocarriers, in order to regulate the driver oncogene, which is the core of cancer precision therapeutics. Furthermore, the outcome of the nanomediated oncogenic regulation has to be accurately assessed by the genetically characterized, patient-derived xenograft models. Cancer therapy in this fashion is a quintessential example of precision medicine, presenting many challenges to the materials communities with new issues in structural design, surface functionalization, gene/drug storage and delivery, cell targeting, and medical imaging. © 2018 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Precision Medicine in Myelodysplastic Syndromes and Leukemias: Lessons from Sequential Mutations.

Science.gov (United States)

Nazha, Aziz; Sekeres, Mikkael A

2017-01-14

Precision medicine can be simply defined as the identification of personalized treatment that matches patient-specific clinical and genomic characteristics. Since the completion of the Human Genome Project in 2003, significant advances have been made in our understanding of the genetic makeup of diseases, especially cancers. The identification of somatic mutations that can drive cancer has led to the development of therapies that specifically target the abnormal proteins derived from these mutations. This has led to a paradigm shift in our treatment methodology. Although some success has been achieved in targeting some genetic abnormalities, several challenges and limitations exist when applying precision-medicine concepts in leukemia and myelodysplastic syndromes. We review the current understanding of genomics in myelodysplastic syndromes (MDS) and leukemias and the limitations of precision-medicine concepts in MDS.

Precision oncology: origins, optimism, and potential.

Science.gov (United States)

Prasad, Vinay; Fojo, Tito; Brada, Michael

2016-02-01

Imatinib, the first and arguably the best targeted therapy, became the springboard for developing drugs aimed at molecular targets deemed crucial to tumours. As this development unfolded, a revolution in the speed and cost of genetic sequencing occurred. The result--an armamentarium of drugs and an array of molecular targets--set the stage for precision oncology, a hypothesis that cancer treatment could be markedly improved if therapies were guided by a tumour's genomic alterations. Drawing lessons from the biological basis of cancer and recent empirical investigations, we take a more measured view of precision oncology's promise. Ultimately, the promise is not our concern, but the threshold at which we declare success. We review reports of precision oncology alongside those of precision diagnostics and novel radiotherapy approaches. Although confirmatory evidence is scarce, these interventions have been widely endorsed. We conclude that the current path will probably not be successful or, at a minimum, will have to undergo substantive adjustments before it can be successful. For the sake of patients with cancer, we hope one form of precision oncology will deliver on its promise. However, until confirmatory studies are completed, precision oncology remains unproven, and as such, a hypothesis in need of rigorous testing. Copyright © 2016 Elsevier Ltd. All rights reserved.

Genetic relationships between detailed reproductive traits and performance traits in Holstein-Friesian dairy cattle.

Science.gov (United States)

Carthy, T R; Ryan, D P; Fitzgerald, A M; Evans, R D; Berry, D P

2016-02-01

The objective of the study was to estimate the genetic relationships between detailed reproductive traits derived from ultrasound examination of the reproductive tract and a range of performance traits in Holstein-Friesian dairy cows. The performance traits investigated included calving performance, milk production, somatic cell score (i.e., logarithm transformation of somatic cell count), carcass traits, and body-related linear type traits. Detailed reproductive traits included (1) resumed cyclicity at the time of examination, (2) multiple ovulations, (3) early ovulation, (4) heat detection, (5) ovarian cystic structures, (6) embryo loss, and (7) uterine score, measured on a 1 (little or no fluid with normal tone) to 4 (large quantity of fluid with a flaccid tone) scale, based on the tone of the uterine wall and the quantity of fluid present in the uterus. (Co)variance components were estimated using a repeatability animal linear mixed model. Genetic merit for greater milk, fat, and protein yield was associated with a reduced ability to resume cyclicity postpartum (genetic correlations ranged from -0.25 to -0.15). Higher genetic merit for milk yield was also associated with a greater genetic susceptibility to multiple ovulations. Genetic predisposition to elevated somatic cell score was associated with a decreased likelihood of cyclicity postpartum (genetic correlation of -0.32) and a greater risk of both multiple ovulations (genetic correlation of 0.25) and embryo loss (genetic correlation of 0.32). Greater body condition score was genetically associated with an increased likelihood of resumption of cyclicity postpartum (genetic correlation of 0.52). Genetically heavier, fatter carcasses with better conformation were also associated with an increased likelihood of resumed cyclicity by the time of examination (genetic correlations ranged from 0.24 to 0.41). Genetically heavier carcasses were associated with an inferior uterine score as well as a greater

GENETIC CHANGES FOR PERFORMANCE TRAITS IN SLOVENIAN PIG NUCLEUS HERDS

Directory of Open Access Journals (Sweden)

Špela Malovrh

2000-06-01

Full Text Available In Slovenian pig nucleus herds, the genetic trends for performance traits in boars were investigated using mixed model methodology. Altogether, data sets from four farms with test stations consisted of 60709 records for five breeds: Swedish Landrace (SL, Large White (LW, Duroc (D, Pietrain (P, and German Landrace (GL boars from years 1975 to 1999. Separate analyses were performed for each farm using the PEST package. Breed, season, and weight on test within breed were fixed effects, while common litter environment and additive genetic effect were treated as random. Genetic trends for days on test from 30 to 100 kg (DoT30100, feed conversion efficiency from 30 to 100 kg (FCE30100, and ultrasonically measured backfat thickness (BF100 were expressed as linear regression of the averages of predicted breeding values on the year of birth. Estimates for genetic changes varied between farms and breeds from +0.0046 to –0.374 day, +0.0019 to – 0.013, and +0.262 to –0.221 mm per year for DoT30100, FCE30100, and BF100, respectively.

Assessment of non-genetic parameters of the racing performances ...

African Journals Online (AJOL)

From 1995 to 2007, flat racing data was collected for Thoroughbred and Arabian horses in Algeria. Non-genetic factors affecting racing performances have been identified and quantified using linear models. Performances are represented through the earnings and the rankings. Three traits were used: two earnings traits [the ...

Genetics Home Reference: CLPB deficiency

Science.gov (United States)

... of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

Recent advances in epilepsy genetics.

Science.gov (United States)

Orsini, Alessandro; Zara, Federico; Striano, Pasquale

2018-02-22

In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

Quantifying and Maximizing Performance of a Human-Centric Robot under Precision, Safety, and Robot Specification Constraints

Data.gov (United States)

National Aeronautics and Space Administration — The research project is an effort towards achieving 99.99% safety of mobile robots working alongside humans while matching the precision performance of industrial...

Genetics Home Reference: lactose intolerance

Science.gov (United States)

... Thomas MG, Swallow DM. Lactose digestion and the evolutionary genetics of lactase persistence. Hum Genet. 2009 Jan; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

Genetics and sport performance: current challenges and directions to the future

Directory of Open Access Journals (Sweden)

João Paulo Limongi França GUILHERME

2014-03-01

Full Text Available In recent years there has been a great progress in molecular biology techniques, which has facilitated the researches on influence of genetics on human performance. There are specific regions of DNA that can vary between individuals. Such variations (i.e., polymorphisms may, in part, explain why some individuals have differentiated responses to certain stimuli, including the responses to sports training. In a particular sport, the presence of specific polymorphisms may contribute to high levels of performance. Since 1998, several polymorphisms have been associated with athletic phenotypes; however the accumulation of information generated over these 15 years shows that the influence of genetics to sport is extremely complex. In this review, we will summarise the current status of the field, discussing the implications of available knowledge for the practice of professionals involved with the sport and suggesting future directions for research. We also discuss topics related to the importance of polygenic profile characterization of athletes, methods for the identification of new polymorphisms associated with physical performance, the use of genetic testing for predicting competitive success, and how crucial is the genetic profile for the success athletes in competition.

[Precision Oncology and "Molecular Tumor Boards" - Concepts, Chances and Challenges].

Science.gov (United States)

Holch, Julian Walter; Westphalen, Christoph Benedikt; Hiddemann, Wolfgang; Heinemann, Volker; Jung, Andreas; Metzeler, Klaus Hans

2017-11-01

Recent developments in genomics allow a more and more comprehensive genetic analysis of human malignancies, and have sparked hopes that this will contribute to the development of novel targeted, effective and well-tolerated therapies.While targeted therapies have improved the prognosis of many cancer patients with certain tumor types, "precision oncology" also brings along new challenges. Highly personalized treatment strategies require new strategies for clinical trials and translation into routine clinical practice. We review the current technical approaches for "universal genetic testing" in cancer, and potential pitfalls in the interpretation of such data. We then provide an overview of the available evidence supporting treatment strategies based on extended genetic analysis. Based on the available data, we conclude that "precision oncology" approaches that go beyond the current standard of care should be pursued within the framework of an interdisciplinary "molecular tumor board", and preferably within clinical trials. © Georg Thieme Verlag KG Stuttgart · New York.

[Precision Nursing: Individual-Based Knowledge Translation].

Science.gov (United States)

Chiang, Li-Chi; Yeh, Mei-Ling; Su, Sui-Lung

2016-12-01

U.S. President Obama announced a new era of precision medicine in the Precision Medicine Initiative (PMI). This initiative aims to accelerate the progress of personalized medicine in light of individual requirements for prevention and treatment in order to improve the state of individual and public health. The recent and dramatic development of large-scale biologic databases (such as the human genome sequence), powerful methods for characterizing patients (such as genomics, microbiome, diverse biomarkers, and even pharmacogenomics), and computational tools for analyzing big data are maximizing the potential benefits of precision medicine. Nursing science should follow and keep pace with this trend in order to develop empirical knowledge and expertise in the area of personalized nursing care. Nursing scientists must encourage, examine, and put into practice innovative research on precision nursing in order to provide evidence-based guidance to clinical practice. The applications in personalized precision nursing care include: explanations of personalized information such as the results of genetic testing; patient advocacy and support; anticipation of results and treatment; ongoing chronic monitoring; and support for shared decision-making throughout the disease trajectory. Further, attention must focus on the family and the ethical implications of taking a personalized approach to care. Nurses will need to embrace the paradigm shift to precision nursing and work collaboratively across disciplines to provide the optimal personalized care to patients. If realized, the full potential of precision nursing will provide the best chance for good health for all.

Genetic Factors Affecting Performance Traits of Sahiwal Cattle in Pakistan

Directory of Open Access Journals (Sweden)

Z. Rehman*§ and M. S. Khan1

2012-06-01

Full Text Available Data on 23925 lactations of 5897 Sahiwal cows in five Government herds of Punjab province were collected to estimate the genetic control and genetic correlations among performance traits. A repeatability animal model having herd-year-season and parity was used for this purpose. The repeatability estimates for 305-d milk yield, total milk yield, lactation length, dry period, calving interval and service period were 0.40±0.015, 0.40±0.016, 0.33±0.013, 0.14±0.005, 0.15±0.004, and 0.14±0.005 respectively. The heritability estimates for these traits were 0.10±0.016, 0.09±0.016, 0.06±0.013, 0.14±0.009, 0.15±0.010, and 0.14±0.010, respectively. The phenotypic, genetic and environmental correlation of 305-d milk yield with lactation length was 0.71, 0.48 and 0.70, respectively, with dry period was -0.31, -0.43 and -0.22, respectively while with calving interval and service period exhibited similar pattern (0.08, 0.25 and 0.08, respectively. The estimated breeding values ranged from -447 to 1254 kg, -442 to 1265 kg, -24 to 38, -78 to 116, -84 to 107 and -81 to 91, days for 305-day milk yield, total milk yield, lactation length, dry period, calving interval and service period, respectively. No specific genetic trend was observed for performance traits during the period under study. Cows have not improved in their ability to perform in various economic traits. Accurate recording of pedigree and performance is necessary for improving the performance traits of Sahiwal. Due to high repeatability estimates of yield traits selection or culling may be practised from first few records.

Principles of precision medicine in stroke.

Science.gov (United States)

Hinman, Jason D; Rost, Natalia S; Leung, Thomas W; Montaner, Joan; Muir, Keith W; Brown, Scott; Arenillas, Juan F; Feldmann, Edward; Liebeskind, David S

2017-01-01

The era of precision medicine has arrived and conveys tremendous potential, particularly for stroke neurology. The diagnosis of stroke, its underlying aetiology, theranostic strategies, recurrence risk and path to recovery are populated by a series of highly individualised questions. Moreover, the phenotypic complexity of a clinical diagnosis of stroke makes a simple genetic risk assessment only partially informative on an individual basis. The guiding principles of precision medicine in stroke underscore the need to identify, value, organise and analyse the multitude of variables obtained from each individual to generate a precise approach to optimise cerebrovascular health. Existing data may be leveraged with novel technologies, informatics and practical clinical paradigms to apply these principles in stroke and realise the promise of precision medicine. Importantly, precision medicine in stroke will only be realised once efforts to collect, value and synthesise the wealth of data collected in clinical trials and routine care starts. Stroke theranostics, the ultimate vision of synchronising tailored therapeutic strategies based on specific diagnostic data, demand cerebrovascular expertise on big data approaches to clinically relevant paradigms. This review considers such challenges and delineates the principles on a roadmap for rational application of precision medicine to stroke and cerebrovascular health. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Precision medicine needs pioneering clinical bioinformaticians.

Science.gov (United States)

Gómez-López, Gonzalo; Dopazo, Joaquín; Cigudosa, Juan C; Valencia, Alfonso; Al-Shahrour, Fátima

2017-10-25

Success in precision medicine depends on accessing high-quality genetic and molecular data from large, well-annotated patient cohorts that couple biological samples to comprehensive clinical data, which in conjunction can lead to effective therapies. From such a scenario emerges the need for a new professional profile, an expert bioinformatician with training in clinical areas who can make sense of multi-omics data to improve therapeutic interventions in patients, and the design of optimized basket trials. In this review, we first describe the main policies and international initiatives that focus on precision medicine. Secondly, we review the currently ongoing clinical trials in precision medicine, introducing the concept of 'precision bioinformatics', and we describe current pioneering bioinformatics efforts aimed at implementing tools and computational infrastructures for precision medicine in health institutions around the world. Thirdly, we discuss the challenges related to the clinical training of bioinformaticians, and the urgent need for computational specialists capable of assimilating medical terminologies and protocols to address real clinical questions. We also propose some skills required to carry out common tasks in clinical bioinformatics and some tips for emergent groups. Finally, we explore the future perspectives and the challenges faced by precision medicine bioinformatics. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Isocentric rotational performance of the Elekta Precise Table studied using a USB-microscope

DEFF Research Database (Denmark)

Riis, Hans L; Zimmermann, Sune J; Riis, Poul

2010-01-01

The isocentric three-dimensional performance of the Elekta Precise Table was investigated. A pointer was attached to the radiation head of the accelerator and positioned at the geometric rotational axis of the head. A USB-microscope was mounted on the treatment tabletop to measure the table...... position relative to the pointer tip. The table performance was mapped in terms of USB-microscope images of the pointer tip at different table angles and load configurations. The USB-microscope was used as a detector to measure the pointer tip positions with a resolution down to 0.01 mm. A new elastic...

Role of Imaging in the Era of Precision Medicine.

Science.gov (United States)

Giardino, Angela; Gupta, Supriya; Olson, Emmi; Sepulveda, Karla; Lenchik, Leon; Ivanidze, Jana; Rakow-Penner, Rebecca; Patel, Midhir J; Subramaniam, Rathan M; Ganeshan, Dhakshinamoorthy

2017-05-01

Precision medicine is an emerging approach for treating medical disorders, which takes into account individual variability in genetic and environmental factors. Preventive or therapeutic interventions can then be directed to those who will benefit most from targeted interventions, thereby maximizing benefits and minimizing costs and complications. Precision medicine is gaining increasing recognition by clinicians, healthcare systems, pharmaceutical companies, patients, and the government. Imaging plays a critical role in precision medicine including screening, early diagnosis, guiding treatment, evaluating response to therapy, and assessing likelihood of disease recurrence. The Association of University Radiologists Radiology Research Alliance Precision Imaging Task Force convened to explore the current and future role of imaging in the era of precision medicine and summarized its finding in this article. We review the increasingly important role of imaging in various oncological and non-oncological disorders. We also highlight the challenges for radiology in the era of precision medicine. Published by Elsevier Inc.

Newborn Screening in the Era of Precision Medicine.

Science.gov (United States)

Yang, Lan; Chen, Jiajia; Shen, Bairong

2017-01-01

As newborn screening success stories gained general confirmation during the past 50 years, scientists quickly discovered diagnostic tests for a host of genetic disorders that could be treated at birth. Outstanding progress in sequencing technologies over the last two decades has made it possible to comprehensively profile newborn screening (NBS) and identify clinically relevant genomic alterations. With the rapid developments in whole-genome sequencing (WGS) and whole-exome sequencing (WES) recently, we can detect newborns at the genomic level and be able to direct the appropriate diagnosis to the different individuals at the appropriate time, which is also encompassed in the concept of precision medicine. Besides, we can develop novel interventions directed at the molecular characteristics of genetic diseases in newborns. The implementation of genomics in NBS programs would provide an effective premise for the identification of the majority of genetic aberrations and primarily help in accurate guidance in treatment and better prediction. However, there are some debate correlated with the widespread application of genome sequencing in NBS due to some major concerns such as clinical analysis, result interpretation, storage of sequencing data, and communication of clinically relevant mutations to pediatricians and parents, along with the ethical, legal, and social implications (so-called ELSI). This review is focused on these critical issues and concerns about the expanding role of genomics in NBS for precision medicine. If WGS or WES is to be incorporated into NBS practice, considerations about these challenges should be carefully regarded and tackled properly to adapt the requirement of genome sequencing in the era of precision medicine.

Exploring the Relationship of Task Performance and Physical and Cognitive Fatigue During a Daylong Light Precision Task.

Science.gov (United States)

Yung, Marcus; Manji, Rahim; Wells, Richard P

2017-11-01

Our aim was to explore the relationship between fatigue and operation system performance during a simulated light precision task over an 8-hr period using a battery of physical (central and peripheral) and cognitive measures. Fatigue may play an important role in the relationship between poor ergonomics and deficits in quality and productivity. However, well-controlled laboratory studies in this area have several limitations, including the lack of work relevance of fatigue exposures and lack of both physical and cognitive measures. There remains a need to understand the relationship between physical and cognitive fatigue and task performance at exposure levels relevant to realistic production or light precision work. Errors and fatigue measures were tracked over the course of a micropipetting task. Fatigue responses from 10 measures and errors in pipetting technique, precision, and targeting were submitted to principal component analysis to descriptively analyze features and patterns. Fatigue responses and error rates contributed to three principal components (PCs), accounting for 50.9% of total variance. Fatigue responses grouped within the three PCs reflected central and peripheral upper extremity fatigue, postural sway, and changes in oculomotor behavior. In an 8-hr light precision task, error rates shared similar patterns to both physical and cognitive fatigue responses, and/or increases in arousal level. The findings provide insight toward the relationship between fatigue and operation system performance (e.g., errors). This study contributes to a body of literature documenting task errors and fatigue, reflecting physical (both central and peripheral) and cognitive processes.

[Precision medicine : a required approach for the general internist].

Science.gov (United States)

Waeber, Gérard; Cornuz, Jacques; Gaspoz, Jean-Michel; Guessous, Idris; Mooser, Vincent; Perrier, Arnaud; Simonet, Martine Louis

2017-01-18

The general internist cannot be a passive bystander of the anticipated medical revolution induced by precision medicine. This latter aims to improve the predictive and/or clinical course of an individual by integrating all biological, genetic, environmental, phenotypic and psychosocial knowledge of a person. In this article, national and international initiatives in the field of precision medicine are discussed as well as the potential financial, ethical and limitations of personalized medicine. The question is not to know if precision medicine will be part of everyday life but rather to integrate early the general internist in multidisciplinary teams to ensure optimal information and shared-decision process with patients and individuals.

Genetic and environmental effects on performance traits of ...

African Journals Online (AJOL)

Genetic and environmental effects on performance traits of Simmentaler cattle on the Transvaal Highveld. Tina Rust, J van der Westhuizen. Abstract. No Abstract. Full Text: EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · AJOL African Journals Online. HOW TO USE ...

Genetic parameters and genetic and phenotypic trends of performance traits of equines from the Brazilian Army

Directory of Open Access Journals (Sweden)

Mariana de Almeida Dornelles

2012-06-01

Full Text Available The objective of this research was to compare the magnitude of genetic parameters (coefficients of heritability and genetic correlation as estimated by the Restricted Maximum Likelihood (REML method and Bayesian Inference, and to estimate the genetic and phenotypic trends to the traits height at the withers (HW24 and weight at 24 months of age (W24. The average heritability estimated by Bayesian Inference to HW24 was 0.47, and it was lower than that obtained by REML bi-trait analysis (0.52; however, the value estimated to W24 (0.39 was higher than that obtained by REML bi-trait analysis (0.38. The genetic correlation estimate between W24 and HW24 traits obtained by the REML method (0.66 was lower than that obtained by the Bayesian Inference Method (0.72. From the regression of the average additive genetic merit in the year of birth of the animals, it was found that the averaged genetic values of the animals for HW24 showed a genetic trend near zero (-0.0008cm/year, and the averaged genetic values for W24 showed a negative trend of -0.38 kg/year. The values to the direct heritability estimated for HW24 and W24 suggest that the direct selection for these traits can provide genetic gain in this population. The genetic correlation between the traits, high and positive, suggests that the selection for HW24 should promote increase in W24 at this age. The genetic trends obtained for the traits studied, near zero, indicate that the selection performed produced a slight reduction of the weight of the animals at 24 months of age; however, it did not promote increase in height at the wither at this same age, in this population.

Genetic and environmental effects on performance traits of ...

African Journals Online (AJOL)

Genetic and environmental effects on performance traits of Simmentaler cattle on the Transvaal Highveld. Tina Rust*. Highveld Region Agricultural Development Institute, .... ef'fect of the mtt' management system (m = 1,2,3,4),. bW = linear regression of the appropriate deviation from the mean of individual age at weaning (in ...

Experimental Performance of a Genetic Algorithm for Airborne Strategic Conflict Resolution

Science.gov (United States)

Karr, David A.; Vivona, Robert A.; Roscoe, David A.; DePascale, Stephen M.; Consiglio, Maria

2009-01-01

The Autonomous Operations Planner, a research prototype flight-deck decision support tool to enable airborne self-separation, uses a pattern-based genetic algorithm to resolve predicted conflicts between the ownship and traffic aircraft. Conflicts are resolved by modifying the active route within the ownship's flight management system according to a predefined set of maneuver pattern templates. The performance of this pattern-based genetic algorithm was evaluated in the context of batch-mode Monte Carlo simulations running over 3600 flight hours of autonomous aircraft in en-route airspace under conditions ranging from typical current traffic densities to several times that level. Encountering over 8900 conflicts during two simulation experiments, the genetic algorithm was able to resolve all but three conflicts, while maintaining a required time of arrival constraint for most aircraft. Actual elapsed running time for the algorithm was consistent with conflict resolution in real time. The paper presents details of the genetic algorithm's design, along with mathematical models of the algorithm's performance and observations regarding the effectiveness of using complimentary maneuver patterns when multiple resolutions by the same aircraft were required.

Fundamentals of Pharmacogenetics in Personalized, Precision Medicine.

Science.gov (United States)

Valdes, Roland; Yin, DeLu Tyler

2016-09-01

This article introduces fundamental principles of pharmacogenetics as applied to personalized and precision medicine. Pharmacogenetics establishes relationships between pharmacology and genetics by connecting phenotypes and genotypes in predicting the response of therapeutics in individual patients. We describe differences between precision and personalized medicine and relate principles of pharmacokinetics and pharmacodynamics to applications in laboratory medicine. We also review basic principles of pharmacogenetics, including its evolution, how it enables the practice of personalized therapeutics, and the role of the clinical laboratory. These fundamentals are a segue for understanding specific clinical applications of pharmacogenetics described in subsequent articles in this issue. Copyright © 2016 Elsevier Inc. All rights reserved.

Use of genome editing tools in human stem cell-based disease modeling and precision medicine.

Science.gov (United States)

Wei, Yu-da; Li, Shuang; Liu, Gai-gai; Zhang, Yong-xian; Ding, Qiu-rong

2015-10-01

Precision medicine emerges as a new approach that takes into account individual variability. The successful conduct of precision medicine requires the use of precise disease models. Human pluripotent stem cells (hPSCs), as well as adult stem cells, can be differentiated into a variety of human somatic cell types that can be used for research and drug screening. The development of genome editing technology over the past few years, especially the CRISPR/Cas system, has made it feasible to precisely and efficiently edit the genetic background. Therefore, disease modeling by using a combination of human stem cells and genome editing technology has offered a new platform to generate " personalized " disease models, which allow the study of the contribution of individual genetic variabilities to disease progression and the development of precise treatments. In this review, recent advances in the use of genome editing in human stem cells and the generation of stem cell models for rare diseases and cancers are discussed.

Genetic relationships between feed efficiency in growing males and beef cow performance.

Science.gov (United States)

Crowley, J J; Evans, R D; Mc Hugh, N; Kenny, D A; McGee, M; Crews, D H; Berry, D P

2011-11-01

Most studies on feed efficiency in beef cattle have focused on performance in young animals despite the contribution of the cow herd to overall profitability of beef production systems. The objective of this study was to quantify, using a large data set, the genetic covariances between feed efficiency in growing animals measured in a performance-test station, and beef cow performance including fertility, survival, calving traits, BW, maternal weaning weight, cow price, and cull cow carcass characteristics in commercial herds. Feed efficiency data were available on 2,605 purebred bulls from 1 test station. Records on cow performance were available on up to 94,936 crossbred beef cows. Genetic covariances were estimated using animal and animal-dam linear mixed models. Results showed that selection for feed efficiency, defined as feed conversion ratio (FCR) or residual BW gain (RG), improved maternal weaning weight as evidenced by the respective genetic correlations of -0.61 and 0.57. Despite residual feed intake (RFI) being phenotypically independent of BW, a negative genetic correlation existed between RFI and cow BW (-0.23; although the SE of 0.31 was large). None of the feed efficiency traits were correlated with fertility, calving difficulty, or perinatal mortality. However, genetic correlations estimated between age at first calving and FCR (-0.55 ± 0.14), Kleiber ratio (0.33 ± 0.15), RFI (-0.29 ± 0.14), residual BW gain (0.36 ± 0.15), and relative growth rate (0.37 ± 0.15) all suggest that selection for improved efficiency may delay the age at first calving, and we speculate, using information from other studies, that this may be due to a delay in the onset of puberty. Results from this study, based on the estimated genetic correlations, suggest that selection for improved feed efficiency will have no deleterious effect on cow performance traits with the exception of delaying the age at first calving.

Precision Oncology and Genetic Risk Information: Exploring Patients' Preferences and Responses

Science.gov (United States)

Dr. Jada Hamilton is an Assistant Member at Memorial Sloan Kettering Cancer Center, as well as an Assistant Attending Psychologist in the Behavioral Sciences Service, Department of Psychiatry and Behavioral Sciences and in the Clinical Genetics Service, Department of Medicine at Memorial Hospital in New York, New York.  She leads a program of research at the intersection of behavioral science, cancer prevention, and genomics, with the goal of translating advances in genetic and genomic medicine into improved cancer care that is of high quality, aligned with patient preferences, and ultimately improves public health.  Dr. Hamilton is also currently leading a study to assess how patients and their families respond to inherited risk information that is revealed as part of tumor sequencing (funded through a Mentored Research Scholar Grant from the American Cancer Society), as well as studies to evaluate alternative models for offering genetic counseling and testing to patients with cancer, and to examine the effects of novel breast cancer genetic risk feedback on patients’ decision-making, psychological, and behavioral outcomes. Prior to joining the faculty of Memorial Sloan Kettering, Dr. Hamilton received a BA in Genetics and Psychology from Ohio Wesleyan University (2004), an MA and PhD in Social and Health Psychology from Stony Brook University (2006, 2009), and an MPH from the Mailman School of Public Health at Columbia University (2010).  She also completed a postdoctoral fellowship as part of the National Cancer Institute’s Cancer Prevention Fellowship Program.

Forecasting nonlinear chaotic time series with function expression method based on an improved genetic-simulated annealing algorithm.

Science.gov (United States)

Wang, Jun; Zhou, Bi-hua; Zhou, Shu-dao; Sheng, Zheng

2015-01-01

The paper proposes a novel function expression method to forecast chaotic time series, using an improved genetic-simulated annealing (IGSA) algorithm to establish the optimum function expression that describes the behavior of time series. In order to deal with the weakness associated with the genetic algorithm, the proposed algorithm incorporates the simulated annealing operation which has the strong local search ability into the genetic algorithm to enhance the performance of optimization; besides, the fitness function and genetic operators are also improved. Finally, the method is applied to the chaotic time series of Quadratic and Rossler maps for validation. The effect of noise in the chaotic time series is also studied numerically. The numerical results verify that the method can forecast chaotic time series with high precision and effectiveness, and the forecasting precision with certain noise is also satisfactory. It can be concluded that the IGSA algorithm is energy-efficient and superior.

Precision wildlife medicine: applications of the human-centred precision medicine revolution to species conservation.

Science.gov (United States)

Whilde, Jenny; Martindale, Mark Q; Duffy, David J

2017-05-01

The current species extinction crisis is being exacerbated by an increased rate of emergence of epizootic disease. Human-induced factors including habitat degradation, loss of biodiversity and wildlife population reductions resulting in reduced genetic variation are accelerating disease emergence. Novel, efficient and effective approaches are required to combat these epizootic events. Here, we present the case for the application of human precision medicine approaches to wildlife medicine in order to enhance species conservation efforts. We consider how the precision medicine revolution, coupled with the advances made in genomics, may provide a powerful and feasible approach to identifying and treating wildlife diseases in a targeted, effective and streamlined manner. A number of case studies of threatened species are presented which demonstrate the applicability of precision medicine to wildlife conservation, including sea turtles, amphibians and Tasmanian devils. These examples show how species conservation could be improved by using precision medicine techniques to determine novel treatments and management strategies for the specific medical conditions hampering efforts to restore population levels. Additionally, a precision medicine approach to wildlife health has in turn the potential to provide deeper insights into human health and the possibility of stemming and alleviating the impacts of zoonotic diseases. The integration of the currently emerging Precision Medicine Initiative with the concepts of EcoHealth (aiming for sustainable health of people, animals and ecosystems through transdisciplinary action research) and One Health (recognizing the intimate connection of humans, animal and ecosystem health and addressing a wide range of risks at the animal-human-ecosystem interface through a coordinated, collaborative, interdisciplinary approach) has great potential to deliver a deeper and broader interdisciplinary-based understanding of both wildlife and human

Defining precision: The precision medicine initiative trials NCI-MPACT and NCI-MATCH.

Science.gov (United States)

Coyne, Geraldine O'Sullivan; Takebe, Naoko; Chen, Alice P

"Precision" trials, using rationally incorporated biomarker targets and molecularly selective anticancer agents, have become of great interest to both patients and their physicians. In the endeavor to test the cornerstone premise of precision oncotherapy, that is, determining if modulating a specific molecular aberration in a patient's tumor with a correspondingly specific therapeutic agent improves clinical outcomes, the design of clinical trials with embedded genomic characterization platforms which guide therapy are an increasing challenge. The National Cancer Institute Precision Medicine Initiative is an unprecedented large interdisciplinary collaborative effort to conceptualize and test the feasibility of trials incorporating sequencing platforms and large-scale bioinformatics processing that are not currently uniformly available to patients. National Cancer Institute-Molecular Profiling-based Assignment of Cancer Therapy and National Cancer Institute-Molecular Analysis for Therapy Choice are 2 genomic to phenotypic trials under this National Cancer Institute initiative, where treatment is selected according to predetermined genetic alterations detected using next-generation sequencing technology across a broad range of tumor types. In this article, we discuss the objectives and trial designs that have enabled the public-private partnerships required to complete the scale of both trials, as well as interim trial updates and strategic considerations that have driven data analysis and targeted therapy assignment, with the intent of elucidating further the benefits of this treatment approach for patients. Copyright © 2017. Published by Elsevier Inc.

The emerging potential for network analysis to inform precision cancer medicine.

Science.gov (United States)

Ozturk, Kivilcim; Dow, Michelle; Carlin, Daniel E; Bejar, Rafael; Carter, Hannah

2018-06-14

Precision cancer medicine promises to tailor clinical decisions to patients using genomic information. Indeed, successes of drugs targeting genetic alterations in tumors, such as imatinib that targets BCR-ABL in chronic myelogenous leukemia, have demonstrated the power of this approach. However biological systems are complex, and patients may differ not only by the specific genetic alterations in their tumor, but by more subtle interactions among such alterations. Systems biology and more specifically, network analysis, provides a framework for advancing precision medicine beyond clinical actionability of individual mutations. Here we discuss applications of network analysis to study tumor biology, early methods for N-of-1 tumor genome analysis and the path for such tools to the clinic. Copyright © 2018. Published by Elsevier Ltd.

Setting Organizational Key Performance Indicators in the Precision Machine Industry

Directory of Open Access Journals (Sweden)

Mei-Hsiu Hong

2015-11-01

Full Text Available The aim of this research is to define (or set organizational key performance indicators (KPIs in the precision machine industry using the concept of core competence and the supply chain operations reference (SCOR model. The research is conducted in three steps. In the first step, a benchmarking study is conducted to collect major items of core competence and to group them into main categories in order to form a foundation for the research. In the second step, a case company questionnaire and interviews are conducted to identify the key factors of core competence in the precision machine industry. The analysis is conducted based on four dimensions and hence several analysis rounds are completed. Questionnaire data is analyzed with grey relational analysis (GRA and resulted in 5–6 key factors in each dimension or sub-dimension. Based on the conducted interviews, 13 of these identified key factors are separated into one organization objective, five key factors of core competence and seven key factors of core ability. In the final step, organizational KPIs are defined (or set for the five identified key factors of core competence. The most competitive core abilities for each of the five key factors are established. After that, organizational KPIs are set based on the core abilities within 3 main categories of KPIs (departmental, office grade and hierarchal for each key factor. The developed KPI system based on organizational objectives, core competences, and core abilities allow enterprises to handle dynamic market demand and business environments, as well as changes in overall corporate objectives.

Pharmacogenetics of asthma: toward precision medicine.

Science.gov (United States)

Kersten, Elin T G; Koppelman, Gerard H

2017-01-01

Although currently available drugs to treat asthma are effective in most patients, a proportion of patients do not respond or experience side-effects; which is partly genetically determined. Pharmacogenetics is the study of how genetic variations influence drug response. In this review, we summarize prior results and recent studies in pharmacogenetics to determine if we can use genetic profiles for personalized treatment of asthma. The field of pharmacogenetics has moved from candidate gene studies in single populations toward genome-wide association studies and meta-analysis of multiple studies. New technologies have been used to enrich results, and an expanding number of genetic loci have been associated with therapeutic responses to asthma drugs. Prospective, genotype-stratified treatment studies have been conducted for β2-agonists, showing attenuated response in children carrying the Arg16 variant in the β2-adrenoreceptor gene. Although there has been much progress, many findings have not been replicated and currently known genetic loci only account for a fraction of variability in drug response. More research is necessary to translate into clinical practice. A polygenic predictive approach integrated in complex networks with other 'omics' technologies could aid to achieve this goal. Finally, to change clinical practice, studies that compare precision medicine with traditional medicine are needed.

Precision medicine in pheochromocytoma and paraganglioma: current and future concepts.

Science.gov (United States)

Björklund, P; Pacak, K; Crona, J

2016-12-01

Pheochromocytoma and paraganglioma (PPGL) are rare diseases but are also amongst the most characterized tumour types. Hence, patients with PPGL have greatly benefited from precision medicine for more than two decades. According to current molecular biology and genetics-based taxonomy, PPGL can be divided into three different clusters characterized by: Krebs cycle reprogramming with oncometabolite accumulation or depletion (group 1a); activation of the (pseudo)hypoxia signalling pathway with increased tumour cell proliferation, invasiveness and migration (group 1b); and aberrant kinase signalling causing a pro-mitogenic and anti-apoptotic state (group 2). Categorization into these clusters is highly dependent on mutation subtypes. At least 12 different syndromes with distinct genetic causes, phenotypes and outcomes have been described. Genetic screening tests have a documented benefit, as different PPGL syndromes require specific approaches for optimal diagnosis and localization of various syndrome-related tumours. Genotype-tailored treatment options, follow-up and preventive care are being investigated. Future new developments in precision medicine for PPGL will mainly focus on further identification of driver mechanisms behind both disease initiation and malignant progression. Identification of novel druggable targets and prospective validation of treatment options are eagerly awaited. To achieve these goals, we predict that collaborative large-scale studies will be needed: Pheochromocytoma may provide an example for developing precision medicine in orphan diseases that could ultimately aid in similar efforts for other rare conditions. © 2016 The Association for the Publication of the Journal of Internal Medicine.

Improving the precision of genotype selection in wheat performance trials

Directory of Open Access Journals (Sweden)

Giovani Benin

2013-12-01

Full Text Available The aim of this study was to verify whether using the Papadakis method improves model assumptions and experimental accuracy in field trials used to determine grain yield for wheat lineages indifferent Value for Cultivation and Use (VCU regions. Grain yield data from 572 field trials at 31 locations in the VCU Regions 1, 2, 3 and 4 in 2007-2011 were used. Each trial was run with and without the use of the Papadakis method. The Papadakis method improved the indices of experimental precision measures and reduced the number of experimental repetitions required to predict grain yield performance among the wheat genotypes. There were differences among the wheat adaptation regions in terms of the efficiency of the Papadakis method, the adjustment coefficient of the genotype averages and the increases in the selective accuracy of grain yield.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Knowledge of genetic correlations is essential to understand the joint evolution of traits through correlated responses to selection, a difficult and seldom, very precise task even with easy-to-breed species. Here, a simulation-based method to estimate genetic correlations and genetic covariances that relies only on ...

The Challenges of Precision Medicine in COPD.

Science.gov (United States)

Cazzola, Mario; Calzetta, Luigino; Rogliani, Paola; Matera, Maria Gabriella

2017-08-01

Pheno-/endotyping chronic obstructive pulmonary disease (COPD) is really important because it provides patients with precise and personalized medicine. The central concept of precision medicine is to take individual variability into account when making management decisions. Precision medicine should ensure that patients get the right treatment at the right dose at the right time, with minimum harmful consequences and maximum efficacy. Ideally, we should search for genetic and molecular biomarker-based profiles. Given the clinical complexity of COPD, it seems likely that a panel of several biomarkers will be required to characterize pathogenetic factors and their course over time. The need for biomarkers to guide the clinical care of individuals with COPD and to enhance the possibilities of success in drug development is clear and urgent, but biomarker development is tremendously challenging and expensive, and translation of research efforts to date has been largely ineffective. Furthermore, the development of personalized treatments will require a much more detailed understanding of the clinical and biological heterogeneity of COPD. Therefore, we are still far from being able to apply precision medicine in COPD and the treatable traits and FEV 1 -free approaches are attempts to precision medicine in COPD that must be considered still quite unsophisticated.

Reaction time inhibition, working memory and 'delay aversion' performance : genetic influences and their interpretation

NARCIS (Netherlands)

Kuntsi, Jonna; Rogers, Hannah; Swinard, Greer; Börger, Norbert; van der Meere, Jaap; Rijsdijk, Fruhling; Asherson, Philip

2006-01-01

Background. For candidate endophenotypes to be useful for psychiatric genetic research, they first of all need to show significant genetic influences. To address the relative lack of previous data, we set to investigate the extent of genetic and environmental influences on performance in a set of

Precision Medicine Approaches to Diabetic Kidney Disease: Tissue as an Issue.

Science.gov (United States)

Gluck, Caroline; Ko, Yi-An; Susztak, Katalin

2017-05-01

Precision medicine approaches, that tailor medications to specific individuals has made paradigm-shifting improvements for patients with certain cancer types. Such approaches, however, have not been implemented for patients with diabetic kidney disease. Precision medicine could offer new avenues for novel diagnostic, prognostic and targeted therapeutics development. Genetic studies associated with multiscalar omics datasets from tissue and cell types of interest of well-characterized cohorts are needed to change the current paradigm. In this review, we will discuss precision medicine approaches that the nephrology community can take to analyze tissue samples to develop new therapeutics for patients with diabetic kidney disease.

Mixed-Precision Spectral Deferred Correction: Preprint

Energy Technology Data Exchange (ETDEWEB)

Grout, Ray W. S.

2015-09-02

Convergence of spectral deferred correction (SDC), where low-order time integration methods are used to construct higher-order methods through iterative refinement, can be accelerated in terms of computational effort by using mixed-precision methods. Using ideas from multi-level SDC (in turn based on FAS multigrid ideas), some of the SDC correction sweeps can use function values computed in reduced precision without adversely impacting the accuracy of the final solution. This is particularly beneficial for the performance of combustion solvers such as S3D [6] which require double precision accuracy but are performance limited by the cost of data motion.

Multiplexed precision genome editing with trackable genomic barcodes in yeast.

Science.gov (United States)

Roy, Kevin R; Smith, Justin D; Vonesch, Sibylle C; Lin, Gen; Tu, Chelsea Szu; Lederer, Alex R; Chu, Angela; Suresh, Sundari; Nguyen, Michelle; Horecka, Joe; Tripathi, Ashutosh; Burnett, Wallace T; Morgan, Maddison A; Schulz, Julia; Orsley, Kevin M; Wei, Wu; Aiyar, Raeka S; Davis, Ronald W; Bankaitis, Vytas A; Haber, James E; Salit, Marc L; St Onge, Robert P; Steinmetz, Lars M

2018-07-01

Our understanding of how genotype controls phenotype is limited by the scale at which we can precisely alter the genome and assess the phenotypic consequences of each perturbation. Here we describe a CRISPR-Cas9-based method for multiplexed accurate genome editing with short, trackable, integrated cellular barcodes (MAGESTIC) in Saccharomyces cerevisiae. MAGESTIC uses array-synthesized guide-donor oligos for plasmid-based high-throughput editing and features genomic barcode integration to prevent plasmid barcode loss and to enable robust phenotyping. We demonstrate that editing efficiency can be increased more than fivefold by recruiting donor DNA to the site of breaks using the LexA-Fkh1p fusion protein. We performed saturation editing of the essential gene SEC14 and identified amino acids critical for chemical inhibition of lipid signaling. We also constructed thousands of natural genetic variants, characterized guide mismatch tolerance at the genome scale, and ascertained that cryptic Pol III termination elements substantially reduce guide efficacy. MAGESTIC will be broadly useful to uncover the genetic basis of phenotypes in yeast.

Genome editing and genetic engineering in livestock for advancing agricultural and biomedical applications.

Science.gov (United States)

Telugu, Bhanu P; Park, Ki-Eun; Park, Chi-Hun

2017-08-01

Genetic modification of livestock has a longstanding and successful history, starting with domestication several thousand years ago. Modern animal breeding strategies predominantly based on marker-assisted and genomic selection, artificial insemination, and embryo transfer have led to significant improvement in the performance of domestic animals, and are the basis for regular supply of high quality animal derived food. However, the current strategy of breeding animals over multiple generations to introduce novel traits is not realistic in responding to the unprecedented challenges such as changing climate, pandemic diseases, and feeding an anticipated 3 billion increase in global population in the next three decades. Consequently, sophisticated genetic modifications that allow for seamless introgression of novel alleles or traits and introduction of precise modifications without affecting the overall genetic merit of the animal are required for addressing these pressing challenges. The requirement for precise modifications is especially important in the context of modeling human diseases for the development of therapeutic interventions. The animal science community envisions the genome editors as essential tools in addressing these critical priorities in agriculture and biomedicine, and for advancing livestock genetic engineering for agriculture, biomedical as well as "dual purpose" applications.

Denaturing high-performance liquid chromatography mutation analysis in patients with reduced Protein S levels

DEFF Research Database (Denmark)

Bathum, Lise; Münster, Anna-Marie; Nybo, Mads

2008-01-01

diagnosis and risk estimation. The aim was to design a high-throughput genetic analysis based on denaturing high-performance liquid chromatography to identify sequence variations in the gene coding for Protein S. PATIENTS: In total, 55 patients referred to the Section of Thrombosis and Haemostasis, Odense......BACKGROUND: Patients with congenital Protein S deficiency have increased risk of venous thromboembolism. However, Protein S levels show large intra-individual variation and the biochemical assays have low accuracy and a high interlaboratory variability. Genetic analysis might aid in a more precise......, giving a precise diagnosis and subsequently a better risk estimation....

Precision Nutrition for Targeting Lipid Metabolism in Colorectal Cancer

Directory of Open Access Journals (Sweden)

Cristina Aguirre-Portolés

2017-09-01

Full Text Available Cancer is a multistage and multifactorial condition with genetic and environmental factors modulating tumorogenesis and disease progression. Nevertheless, cancer is preventable, as one third of cancer deaths could be avoided by modifying key risk factors. Nutrients can directly affect fundamental cellular processes and are considered among the most important risk factors in colorectal cancer (CRC. Red and processed meat, poultry consumption, fiber, and folate are the best-known diet components that interact with colorectal cancer susceptibility. In addition, the direct association of an unhealthy diet with obesity and dysbiosis opens new routes in the understanding of how daily diet nutrients could influence cancer prognosis. In the “omics” era, traditional nutrition has been naturally evolved to precision nutrition where technical developments have contributed to a more accurate discipline. In this sense, genomic and transcriptomic studies have been extensively used in precision nutrition approaches. However, the relation between CRC carcinogenesis and nutrition factors is more complex than originally expected. Together with classical diet-nutrition-related genes, nowadays, lipid-metabolism-related genes have acquired relevant interest in precision nutrition studies. Lipids regulate very diverse cellular processes from ATP synthesis and the activation of essential cell-signaling pathways to membrane organization and plasticity. Therefore, a wide range of tumorogenic steps can be influenced by lipid metabolism, both in primary tumours and distal metastasis. The extent to which genetic variants, together with the intake of specific dietary components, affect the risk of CRC is currently under investigation, and new therapeutic or preventive applications must be explored in CRC models. In this review, we will go in depth into the study of co-occurring events, which orchestrate CRC tumorogenesis and are essential for the evolution of precision

Tour de France Champions born or made: where do we take the genetics of performance?

Science.gov (United States)

Moran, Colin N; Pitsiladis, Yannis P

2017-07-01

Cyclists in the Tour de France are endurance specialists. Twin and family studies have shown that approximately 50% of the variance in a number of performance-related phenotypes (whether measured at baseline, i.e., natural talent, or in response to training) including those important to cycling can be explained by genetic variation. Research into the specific genetic variants that are responsible has identified over 200 genes containing common genetic variants involved in the genetic predisposition to physical performance. However, typically these explain only a small portion of the variance, perhaps 1-2% and collectively they rarely explain anything approaching the 50% of the variance identified in the twin and family studies. Thus, there is a gap in our understanding of the relationship between heritability and performance. This gap may be bridged by investigation of rare variants or epigenetic variation or by altering study designs through increased collaborations to pool existing cohorts together. Initial findings from such efforts show promising results. This mini-review will touch on the genetics and epigenetics of sporting performance, how they relate to cyclists in the Tour de France and where best future efforts may be directed as well as discuss some preliminary research findings.

Precision Clock Evaluation Facility

Data.gov (United States)

Federal Laboratory Consortium — FUNCTION: Tests and evaluates high-precision atomic clocks for spacecraft, ground, and mobile applications. Supports performance evaluation, environmental testing,...

Estimates of epistatic and pleiotropic effects of casein alpha s1 (CSN1S1) and thyroglobulin (TG) genetic markers on beef heifer performance traits enhanced by selection

Science.gov (United States)

Genetic marker effects and type of inheritance are estimated with poor precision when minor marker allele frequencies are low. A stable composite population (MARC II) was subjected to marker assisted selection for two years to equalize CSN1S1 and TG genetic marker frequencies to evaluate the epista...

Can short-term oral fine motor training affect precision of task performance and induce cortical plasticity of the jaw muscles?

DEFF Research Database (Denmark)

Hong, Zhang; Kumar, Abhishek; Kothari, Mohit

2016-01-01

The aim was to test the hypothesis that short-term oral sensorimotor training of the jaw muscles would increase the precision of task performance and induce neuroplastic changes in the corticomotor pathways, related to the masseter muscle. Fifteen healthy volunteers performed six series with ten...... trials of an oral sensorimotor task. The task was to manipulate and position a spherical chocolate candy in between the anterior teeth and split it into two equal halves. The precision of the task performance was evaluated by comparing the ratio between the two split halves. A series of "hold......-and-split" tasks was also performed before and after the training. The hold force and split force along with the electromyographic (EMG) activity of jaw muscles were recorded. Motor-evoked potentials and cortical motor maps of the right masseter muscle were evoked by transcranial magnetic stimulation...

Genetic aspects of athletic performance: the African runners phenomenon

Directory of Open Access Journals (Sweden)

Vancini RL

2014-05-01

Full Text Available Rodrigo Luiz Vancini,1 João Bosco Pesquero,2 Rafael Júlio Fachina,3,4 Marília dos Santos Andrade,1 João Paulo Borin,3 Paulo César Montagner,3 Claudio Andre Barbosa de Lira51Centro de Educação Física e Desportos, Universidade Federal do Espírito Santo, Vitória, Espírito Santo, Brazil; 2Departamento de Biofísica, Universidade Federal de São Paulo, São Paulo, Brazil; 3Departamento de Ciência do Esporte, Faculdade de Educação Física, Universidade Estadual de Campinas, Campinas, Brazil; 4Confederação Brasileira de Basquetebol, Rio de Janeiro, Brazil; 5Setor de Fisiologia Humana e do Exercício, Faculdade de Educação Física, Universidade Federal de Goiás, Goiânia, BrazilAbstract: The current dominance of African runners in long-distance running is an intriguing phenomenon that highlights the close relationship between genetics and physical performance. Many factors in the interesting interaction between genotype and phenotype (eg, high cardiorespiratory fitness, higher hemoglobin concentration, good metabolic efficiency, muscle fiber composition, enzyme profile, diet, altitude training, and psychological aspects have been proposed in the attempt to explain the extraordinary success of these runners. Increasing evidence shows that genetics may be a determining factor in physical and athletic performance. But, could this also be true for African long-distance runners? Based on this question, this brief review proposed the role of genetic factors (mitochondrial deoxyribonucleic acid, the Y chromosome, and the angiotensin-converting enzyme and the alpha-actinin-3 genes in the amazing athletic performance observed in African runners, especially the Kenyans and Ethiopians, despite their environmental constraints.Keywords: genes, genotype, physical exercise, endurance runners

Evaluating the performance of a low-cost GPS in precision agriculture applications

DEFF Research Database (Denmark)

Jensen, Kjeld; Larsen, Morten; Simonsen, Tom

2012-01-01

Field Robots are often equipped with a Real Time Kinematic (RTK) GPS to obtain precise positioning. In many precision agriculture applications, however, the robot operates in semi-structured environments like orchards and row crops, where local sensors such as computer vision and laser range...... scanners can produce accurate positioning relative to the crops. GPS is then primarily needed for robust inter-row navigation. This work evaluates a new low-cost GPS. Static tests were used to test the absolute accuracy. To test the GPS in a precision agriculture environment it was installed on a robot...

Conducting Precision Medicine Research with African Americans.

Science.gov (United States)

Halbert, Chanita Hughes; McDonald, Jasmine; Vadaparampil, Susan; Rice, LaShanta; Jefferson, Melanie

2016-01-01

Precision medicine is an approach to detecting, treating, and managing disease that is based on individual variation in genetic, environmental, and lifestyle factors. Precision medicine is expected to reduce health disparities, but this will be possible only if studies have adequate representation of racial minorities. It is critical to anticipate the rates at which individuals from diverse populations are likely to participate in precision medicine studies as research initiatives are being developed. We evaluated the likelihood of participating in a clinical study for precision medicine. Observational study conducted between October 2010 and February 2011 in a national sample of African Americans. Intentions to participate in a government sponsored study that involves providing a biospecimen and generates data that could be shared with other researchers to conduct future studies. One third of respondents would participate in a clinical study for precision medicine. Only gender had a significant independent association with participation intentions. Men had a 1.86 (95% CI = 1.11, 3.12, p = 0.02) increased likelihood of participating in a precision medicine study compared to women in the model that included overall barriers and facilitators. In the model with specific participation barriers, distrust was associated with a reduced likelihood of participating in the research described in the vignette (OR = 0.57, 95% CI = 0.34, 0.96, p = 0.04). African Americans may have low enrollment in PMI research. As PMI research is implemented, extensive efforts will be needed to ensure adequate representation. Additional research is needed to identify optimal ways of ethically describing precision medicine studies to ensure sufficient recruitment of racial minorities.

Performance of genetic algorithms in search for water splitting perovskites

DEFF Research Database (Denmark)

Jain, A.; Castelli, Ivano Eligio; Hautier, G.

2013-01-01

We examine the performance of genetic algorithms (GAs) in uncovering solar water light splitters over a space of almost 19,000 perovskite materials. The entire search space was previously calculated using density functional theory to determine solutions that fulfill constraints on stability, band...

Gene mutation-based and specific therapies in precision medicine.

Science.gov (United States)

Wang, Xiangdong

2016-04-01

Precision medicine has been initiated and gains more and more attention from preclinical and clinical scientists. A number of key elements or critical parts in precision medicine have been described and emphasized to establish a systems understanding of precision medicine. The principle of precision medicine is to treat patients on the basis of genetic alterations after gene mutations are identified, although questions and challenges still remain before clinical application. Therapeutic strategies of precision medicine should be considered according to gene mutation, after biological and functional mechanisms of mutated gene expression or epigenetics, or the correspondent protein, are clearly validated. It is time to explore and develop a strategy to target and correct mutated genes by direct elimination, restoration, correction or repair of mutated sequences/genes. Nevertheless, there are still numerous challenges to integrating widespread genomic testing into individual cancer therapies and into decision making for one or another treatment. There are wide-ranging and complex issues to be solved before precision medicine becomes clinical reality. Thus, the precision medicine can be considered as an extension and part of clinical and translational medicine, a new alternative of clinical therapies and strategies, and have an important impact on disease cures and patient prognoses. © 2015 The Author. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

Nonalcoholic steatohepatitis in precision medicine: Unraveling the factors that contribute to individual variability.

Science.gov (United States)

Clarke, John D; Cherrington, Nathan J

2015-07-01

There are numerous factors in individual variability that make the development and implementation of precision medicine a challenge in the clinic. One of the main goals of precision medicine is to identify the correct dose for each individual in order to maximize therapeutic effect and minimize the occurrence of adverse drug reactions. Many promising advances have been made in identifying and understanding how factors such as genetic polymorphisms can influence drug pharmacokinetics (PK) and contribute to variable drug response (VDR), but it is clear that there remain many unidentified variables. Underlying liver diseases such as nonalcoholic steatohepatitis (NASH) alter absorption, distribution, metabolism, and excretion (ADME) processes and must be considered in the implementation of precision medicine. There is still a profound need for clinical investigation into how NASH-associated changes in ADME mediators, such as metabolism enzymes and transporters, affect the pharmacokinetics of individual drugs known to rely on these pathways for elimination. This review summarizes the key PK factors in individual variability and VDR and highlights NASH as an essential underlying factor that must be considered as the development of precision medicine advances. A multifactorial approach to precision medicine that considers the combination of two or more risk factors (e.g. genetics and NASH) will be required in our effort to provide a new era of benefit for patients. Copyright © 2015 Elsevier Inc. All rights reserved.

Genetic analysis of reproductive performance of Frieswal cattle at Military Farm, Ambala

Directory of Open Access Journals (Sweden)

Jagdeep Kumar

2015-09-01

Full Text Available Aim: This study was carried out to investigate the genetic analysis of reproductive performance of Frieswal cattle at Military Farm, Ambala. Materials and Methods: A total number of 3005 lactation records of 1147 Frieswal cows over a period of 15 years extending from 1993 to 2007 were used to study at Military Dairy Farm, Ambala. The study period was divided into 5 period of 3 years each. The average performances of reproduction traits, effect of genetic and non-genetic factors were analyzed, and estimation of genetic and phenotypic parameters of reproduction traits was undertaken. Results: The age at first calving (AFC differed significantly across the periods of calving. The AFC was lowest during the third period (1999-2001 and longest in the first period (1993-95. The effect of season and period of calving, lactation order and regression of AFC on dry period, calving interval and service period was highly significant. The effect of sire was non-significant. The heritability estimates were low for almost all the traits under study. The service period had a high genetic correlation with dry period and calving interval. The dry period also found to have a low genetic correlation with calving interval in Frieswal cows. Service period had a high phenotypic correlation with dry period and very high with a calving interval. The phenotypic correlation between the dry period and calving interval was recognized high. Conclusions: Low heritability estimate for the reproduction traits indicates that there is a very little additive genetic variance in these traits, and individual selection will not be helpful for improving them. Improvement may be brought through better feeding and management of cows by reducing the environmental variability.

Genetic modification and its impact on industry structure and performance

NARCIS (Netherlands)

Vlaar, P.W.L.; van Beek, P.; Visser, R.G.F.

2007-01-01

Genetic modification has led to fierce debates around the world. Nevertheless, scientific evidence for its potential effects on the structure and performance of industries has hitherto remained rather meagre. In this article, we take some preliminary steps towards closing this gap by exploring the

Artificial intelligence, physiological genomics, and precision medicine.

Science.gov (United States)

Williams, Anna Marie; Liu, Yong; Regner, Kevin R; Jotterand, Fabrice; Liu, Pengyuan; Liang, Mingyu

2018-04-01

Big data are a major driver in the development of precision medicine. Efficient analysis methods are needed to transform big data into clinically-actionable knowledge. To accomplish this, many researchers are turning toward machine learning (ML), an approach of artificial intelligence (AI) that utilizes modern algorithms to give computers the ability to learn. Much of the effort to advance ML for precision medicine has been focused on the development and implementation of algorithms and the generation of ever larger quantities of genomic sequence data and electronic health records. However, relevance and accuracy of the data are as important as quantity of data in the advancement of ML for precision medicine. For common diseases, physiological genomic readouts in disease-applicable tissues may be an effective surrogate to measure the effect of genetic and environmental factors and their interactions that underlie disease development and progression. Disease-applicable tissue may be difficult to obtain, but there are important exceptions such as kidney needle biopsy specimens. As AI continues to advance, new analytical approaches, including those that go beyond data correlation, need to be developed and ethical issues of AI need to be addressed. Physiological genomic readouts in disease-relevant tissues, combined with advanced AI, can be a powerful approach for precision medicine for common diseases.

An Emerging Role for Polystores in Precision Medicine

Energy Technology Data Exchange (ETDEWEB)

Begoli, Edmon [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Christian, J. Blair [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Gadepally, Vijay [Massachusetts Inst. of Technology (MIT), Cambridge, MA (United States); Papadopoulos, Stavros [TileDB, Inc., Cambridge, MA (United States)

2017-08-26

Medical data is organically heterogeneous, and it usually varies significantly in both size and composition. Yet, this data is also a key for the recent and promising field of precision medicine, which focuses on identifying and tailoring appropriate medical treatments for the needs of the individual patients, based on their specific conditions, their medical history, lifestyle, genetic, and other individual factors. As we, and a database community at large, recognize that a “one size does not fit all” solution is required to work with such data, we present in this paper our observations based on our experiences, and the applications in the field of precision medicine. Finally, we make the case for the use of polystore architecture; how it applies for precision medicine; we discuss the reference architecture; describe some of its critical components (array database); and discuss the specific types of analysis that directly benefit from this database architecture, and the ways it serves the data.

High Performance Transfer Press for Precision Manufacturing of Micro Metal Parts

DEFF Research Database (Denmark)

Mahshid, Rasoul

for this technology and are available already in the market. Similar to conventional forming processes, the presence of a handling system can significantly improve the efficiency of the technology towards building a high performance transfer press for micro forming technology. To examine this possibility...... for actuation principle and mechanical grippers based on self-centering and friction principles. This study introduced a methodology for the analysis and characterization of this transfer system on component level and system level. Laser interferometry was used in combination with analytical models to predict...... the positioning ability of the actuator in a static as well as dynamic mode. In combination with an analysis of the grippers, a full description of the transfer precision inside the forming press was obtained. The current research involved integration of a handling system into an existing developed micro press...

Public health and precision medicine share a goal.

Science.gov (United States)

Vaithinathan, Asokan G; Asokan, Vanitha

2017-05-01

The advances made in genomics and molecular tools aid public health programs in the investigation of outbreaks and control of diseases by taking advantage of the precision medicine. Precision medicine means "segregating the individuals into subpopulations who vary in their disease susceptibility and response to a precise treatment" and not merely designing of drugs or creation of medical devices. By 2017, the United Kingdom 100,000 Genomes Project is expected to sequence 100,000 genomes from 70,000 patients. Similarly, the Precision Medicine Initiative of the United States plans to increase population-based genome sequencing and link it with clinical data. A national cohort of around 1 million people is to be established in the long term, to investigate the genetic and environmental determinants of health and disease, and further integrated to their electronic health records that are optional. Precision public health can be seen as administering the right intervention to the needy population at an appropriate time. Precision medicine originates from a wet-lab while evidence-based medicine is nurtured in a clinic. Linking the quintessential basic science research and clinical practice is necessary. In addition, new technologies to employ and analyze data in an integrated and dynamic way are essential for public health and precision medicine. The transition from evidence-based approach in public health to genomic approach to individuals with a paradigm shift of a "reactive" medicine to a more "proactive" and personalized health care may sound exceptional. However, a population perspective is needed for the precision medicine to succeed. © 2016 Chinese Cochrane Center, West China Hospital of Sichuan University and John Wiley & Sons Australia, Ltd.

Fundamentals of precision medicine

Science.gov (United States)

Divaris, Kimon

2018-01-01

Imagine a world where clinicians make accurate diagnoses and provide targeted therapies to their patients according to well-defined, biologically-informed disease subtypes, accounting for individual differences in genetic make-up, behaviors, cultures, lifestyles and the environment. This is not as utopic as it may seem. Relatively recent advances in science and technology have led to an explosion of new information on what underlies health and what constitutes disease. These novel insights emanate from studies of the human genome and microbiome, their associated transcriptomes, proteomes and metabolomes, as well as epigenomics and exposomics—such ‘omics data can now be generated at unprecedented depth and scale, and at rapidly decreasing cost. Making sense and integrating these fundamental information domains to transform health care and improve health remains a challenge—an ambitious, laudable and high-yield goal. Precision dentistry is no longer a distant vision; it is becoming part of the rapidly evolving present. Insights from studies of the human genome and microbiome, their associated transcriptomes, proteomes and metabolomes, and epigenomics and exposomics have reached an unprecedented depth and scale. Much more needs to be done, however, for the realization of precision medicine in the oral health domain. PMID:29227115

Precision genome engineering and agriculture: opportunities and regulatory challenges.

Science.gov (United States)

Voytas, Daniel F; Gao, Caixia

2014-06-01

Plant agriculture is poised at a technological inflection point. Recent advances in genome engineering make it possible to precisely alter DNA sequences in living cells, providing unprecedented control over a plant's genetic material. Potential future crops derived through genome engineering include those that better withstand pests, that have enhanced nutritional value, and that are able to grow on marginal lands. In many instances, crops with such traits will be created by altering only a few nucleotides among the billions that comprise plant genomes. As such, and with the appropriate regulatory structures in place, crops created through genome engineering might prove to be more acceptable to the public than plants that carry foreign DNA in their genomes. Public perception and the performance of the engineered crop varieties will determine the extent to which this powerful technology contributes towards securing the world's food supply.

Performance evaluation of Genetic Algorithms on loading pattern optimization of PWRs

International Nuclear Information System (INIS)

Tombakoglu, M.; Bekar, K.B.; Erdemli, A.O.

2001-01-01

Genetic Algorithm (GA) based systems are used for search and optimization problems. There are several applications of GAs in literature successfully applied for loading pattern optimization problems. In this study, we have selected loading pattern optimization problem of Pressurised Water Reactor (PWR). The main objective of this work is to evaluate the performance of Genetic Algorithm operators such as regional crossover, crossover and mutation, and selection and construction of initial population and its size for PWR loading pattern optimization problems. The performance of GA with antithetic variates is compared to traditional GA. Antithetic variates are used to generate the initial population and its use with GA operators are also discussed. Finally, the results of multi-cycle optimization problems are discussed for objective function taking into account cycle burn-up and discharge burn-up.(author)

Initial Experience Performing In-office Ultrasound-guided Transperineal Prostate Biopsy Under Local Anesthesia Using the PrecisionPoint Transperineal Access System.

Science.gov (United States)

Meyer, Alexa R; Joice, Gregory A; Schwen, Zeyad R; Partin, Alan W; Allaf, Mohamad E; Gorin, Michael A

2018-05-01

To describe our procedural technique and initial outcomes performing in-office transperineal prostate biopsies using the PrecisionPoint Transperineal Access System (Perineologic, Cumberland, MD). Following institutional review board approval, we retrospectively reviewed the records of men who underwent an in-office transperineal prostate biopsy using the PrecisionPoint device. Records were reviewed for baseline characteristics, biopsy results, and postbiopsy complications. Between January 4, 2017 and August 23, 2017, 43 men underwent an in-office transperineal prostate biopsy using the PrecisionPoint Transperineal Access System. Patients had a median serum prostate specific antigen level of 6.1 ng/mL (range 0.8-32.9). Of the 43 biopsies, 12 (27.9%) were performed for active surveillance of low-risk prostate cancer and 31 (72.1%) were performed for cancer screening. Overall, 21 (48.8%) men were found to have prostate cancer. Among those on active surveillance, cancer was detected in 8 of 12 (66.7%) patients, with 2 of 12 (16.7%) found to have Gleason ≥3 + 4 = 7 prostate cancer. Additionally, cancer was detected in 13 of 31 (41.9%) patients undergoing a biopsy for prostate cancer screening, with 5 (16.1%) found to have Gleason ≥3 + 4 = 7 disease. In total, 3 (7.0%) patients experienced a postbiopsy complication: 2 (4.7%) with urinary retention and 1 (2.3%) with gross hematuria requiring catheterization. No patient experienced an infectious complication despite omission of periprocedural antibiotics in all cases. The PrecisionPoint device allowed for the successful performance of in-office transperineal prostate biopsies under local anesthesia without the need for periprocedural antibiotics. We observed an acceptable cancer detection rate with no infectious complications. Copyright © 2018 Elsevier Inc. All rights reserved.

Gene-Diet Interaction and Precision Nutrition in Obesity

Directory of Open Access Journals (Sweden)

Yoriko Heianza

2017-04-01

Full Text Available The rapid rise of obesity during the past decades has coincided with a profound shift of our living environment, including unhealthy dietary patterns, a sedentary lifestyle, and physical inactivity. Genetic predisposition to obesity may have interacted with such an obesogenic environment in determining the obesity epidemic. Growing studies have found that changes in adiposity and metabolic response to low-calorie weight loss diets might be modified by genetic variants related to obesity, metabolic status and preference to nutrients. This review summarized data from recent studies of gene-diet interactions, and discussed integration of research of metabolomics and gut microbiome, as well as potential application of the findings in precision nutrition.

Multigene Genetic Programming for Estimation of Elastic Modulus of Concrete

Directory of Open Access Journals (Sweden)

Alireza Mohammadi Bayazidi

2014-01-01

Full Text Available This paper presents a new multigene genetic programming (MGGP approach for estimation of elastic modulus of concrete. The MGGP technique models the elastic modulus behavior by integrating the capabilities of standard genetic programming and classical regression. The main aim is to derive precise relationships between the tangent elastic moduli of normal and high strength concrete and the corresponding compressive strength values. Another important contribution of this study is to develop a generalized prediction model for the elastic moduli of both normal and high strength concrete. Numerous concrete compressive strength test results are obtained from the literature to develop the models. A comprehensive comparative study is conducted to verify the performance of the models. The proposed models perform superior to the existing traditional models, as well as those derived using other powerful soft computing tools.

PDE Modeling of a Microfluidic Thermal Process for Genetic Analysis Application

Directory of Open Access Journals (Sweden)

Reza Banaei Khosroushahi

2013-01-01

Full Text Available This paper details the infinite dimensional dynamics of a prototype microfluidic thermal process that is used for genetic analysis purposes. Highly effective infinite dimensional dynamics, in addition to collocated sensor and actuator architecture, require the development of a precise control framework to meet the very tight performance requirements of this system, which are not fully attainable through conventional lumped modeling and controller design approaches. The general partial differential equations describing the dynamics of the system are separated into steady-state and transient parts which are derived for a carefully chosen three-dimensional axisymmetric model. These equations are solved analytically, and the results are verified using an experimentally verified precise finite element method (FEM model. The final combined result is a framework for designing a precise tracking controller applicable to the selected lab-on-a-chip device.

Genetic diversity of high performance cultivars of upland and irrigated Brazilian rice.

Science.gov (United States)

Coelho, G R C; Brondani, C; Hoffmann, L V; Valdisser, P A M R; Borba, T C O; Mendonça, J A; Rodrigues, L A; de Menezes, I P P

2017-09-21

The objective of this study was to analyze the diversity and discrimination of high-performance Brazilian rice cultivars using microsatellite markers. Twenty-nine rice cultivars belonging to EMBRAPA Arroz e Feijão germplasm bank in Brazil were genotyped by 24 SSR markers to establish their structure and genetic discrimination. It was demonstrated that the analyzed germplasm of rice presents an expressive and significant genetic diversity with low heterogeneity among the cultivars. All 29 cultivars were differentiated genetically, and were organized into two groups related to their upland and irrigated cultivation systems. These groups showed a high genetic differentiation, with greater diversity within the group that includes the cultivars for irrigated system. The genotyping data of these cultivars, with the morphological e phenotypical data, are valuable information to be used by rice breeding programs to develop new improved cultivars.

Recent Advances in Human Genetics and Epigenetics of Adiposity: Pathway to Precision Medicine?

Science.gov (United States)

Fall, Tove; Mendelson, Michael; Speliotes, Elizabeth K

2017-05-01

Obesity is a heritable trait that contributes to substantial global morbidity and mortality. Here, we summarize findings from the past decade of genetic and epigenetic research focused on unravelling the underpinnings of adiposity. More than 140 genetic regions now are known to influence adiposity traits. The genetics of general adiposity, as measured by body mass index, and that of abdominal obesity, as measured by waist-to-hip ratio, have distinct biological backgrounds. Gene expression associated with general adiposity is enriched in the nervous system. In contrast, genes associated with abdominal adiposity function in adipose tissue. Recent population-based epigenetic analyses have highlighted additional distinct loci. We discuss how associated genetic variants can lead to understanding causal mechanisms, and to disentangling reverse causation in epigenetic analyses. Discoveries emerging from population genomics are identifying new disease markers and potential novel drug targets to better define and combat obesity and related diseases. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

Performance of penalized maximum likelihood in estimation of genetic covariances matrices

Directory of Open Access Journals (Sweden)

Meyer Karin

2011-11-01

Full Text Available Abstract Background Estimation of genetic covariance matrices for multivariate problems comprising more than a few traits is inherently problematic, since sampling variation increases dramatically with the number of traits. This paper investigates the efficacy of regularized estimation of covariance components in a maximum likelihood framework, imposing a penalty on the likelihood designed to reduce sampling variation. In particular, penalties that "borrow strength" from the phenotypic covariance matrix are considered. Methods An extensive simulation study was carried out to investigate the reduction in average 'loss', i.e. the deviation in estimated matrices from the population values, and the accompanying bias for a range of parameter values and sample sizes. A number of penalties are examined, penalizing either the canonical eigenvalues or the genetic covariance or correlation matrices. In addition, several strategies to determine the amount of penalization to be applied, i.e. to estimate the appropriate tuning factor, are explored. Results It is shown that substantial reductions in loss for estimates of genetic covariance can be achieved for small to moderate sample sizes. While no penalty performed best overall, penalizing the variance among the estimated canonical eigenvalues on the logarithmic scale or shrinking the genetic towards the phenotypic correlation matrix appeared most advantageous. Estimating the tuning factor using cross-validation resulted in a loss reduction 10 to 15% less than that obtained if population values were known. Applying a mild penalty, chosen so that the deviation in likelihood from the maximum was non-significant, performed as well if not better than cross-validation and can be recommended as a pragmatic strategy. Conclusions Penalized maximum likelihood estimation provides the means to 'make the most' of limited and precious data and facilitates more stable estimation for multi-dimensional analyses. It should

An Improved Chaos Genetic Algorithm for T-Shaped MIMO Radar Antenna Array Optimization

Directory of Open Access Journals (Sweden)

Xin Fu

2014-01-01

Full Text Available In view of the fact that the traditional genetic algorithm easily falls into local optimum in the late iterations, an improved chaos genetic algorithm employed chaos theory and genetic algorithm is presented to optimize the low side-lobe for T-shaped MIMO radar antenna array. The novel two-dimension Cat chaotic map has been put forward to produce its initial population, improving the diversity of individuals. The improved Tent map is presented for groups of individuals of a generation with chaos disturbance. Improved chaotic genetic algorithm optimization model is established. The algorithm presented in this paper not only improved the search precision, but also avoids effectively the problem of local convergence and prematurity. For MIMO radar, the improved chaos genetic algorithm proposed in this paper obtains lower side-lobe level through optimizing the exciting current amplitude. Simulation results show that the algorithm is feasible and effective. Its performance is superior to the traditional genetic algorithm.

Enhancing genetic gain in the era of molecular breeding.

Science.gov (United States)

Xu, Yunbi; Li, Ping; Zou, Cheng; Lu, Yanli; Xie, Chuanxiao; Zhang, Xuecai; Prasanna, Boddupalli M; Olsen, Michael S

2017-05-17

As one of the important concepts in conventional quantitative genetics and breeding, genetic gain can be defined as the amount of increase in performance that is achieved annually through artificial selection. To develop pro ducts that meet the increasing demand of mankind, especially for food and feed, in addition to various industrial uses, breeders are challenged to enhance the potential of genetic gain continuously, at ever higher rates, while they close the gaps that remain between the yield potential in breeders' demonstration trials and the actual yield in farmers' fields. Factors affecting genetic gain include genetic variation available in breeding materials, heritability for traits of interest, selection intensity, and the time required to complete a breeding cycle. Genetic gain can be improved through enhancing the potential and closing the gaps, which has been evolving and complemented with modern breeding techniques and platforms, mainly driven by molecular and genomic tools, combined with improved agronomic practice. Several key strategies are reviewed in this article. Favorable genetic variation can be unlocked and created through molecular and genomic approaches including mutation, gene mapping and discovery, and transgene and genome editing. Estimation of heritability can be improved by refining field experiments through well-controlled and precisely assayed environmental factors or envirotyping, particularly for understanding and controlling spatial heterogeneity at the field level. Selection intensity can be significantly heightened through improvements in the scale and precision of genotyping and phenotyping. The breeding cycle time can be shortened by accelerating breeding procedures through integrated breeding approaches such as marker-assisted selection and doubled haploid development. All the strategies can be integrated with other widely used conventional approaches in breeding programs to enhance genetic gain. More transdisciplinary

Alignment of Short Reads: A Crucial Step for Application of Next-Generation Sequencing Data in Precision Medicine

Directory of Open Access Journals (Sweden)

Hao Ye

2015-11-01

Full Text Available Precision medicine or personalized medicine has been proposed as a modernized and promising medical strategy. Genetic variants of patients are the key information for implementation of precision medicine. Next-generation sequencing (NGS is an emerging technology for deciphering genetic variants. Alignment of raw reads to a reference genome is one of the key steps in NGS data analysis. Many algorithms have been developed for alignment of short read sequences since 2008. Users have to make a decision on which alignment algorithm to use in their studies. Selection of the right alignment algorithm determines not only the alignment algorithm but also the set of suitable parameters to be used by the algorithm. Understanding these algorithms helps in selecting the appropriate alignment algorithm for different applications in precision medicine. Here, we review current available algorithms and their major strategies such as seed-and-extend and q-gram filter. We also discuss the challenges in current alignment algorithms, including alignment in multiple repeated regions, long reads alignment and alignment facilitated with known genetic variants.

GLOBAL OPIOID EPIDEMIC: DOOMED TO FAIL WITHOUT GENETICALLY BASED PRECISION ADDICTION MEDICINE (PAM™): LESSONS LEARNED FROM AMERICA.

Science.gov (United States)

Blum, Kenneth; Modestino, Edward J; Gondré-Lewis, Marjorie C; Neary, Jennifer; Siwicki, David; Hauser, Mary; Barh, Debmalya; Steinberg, Bruce; Badgaiyan, Rajendra D

2017-01-01

It is a reality that globally opioid deaths have soared for men and women of all social, economic status and age from heroin and fentanyl overdoses. Specifically, in the United States, deaths from narcotic overdoses have reached alarming metrics since 2010. In fact, the Fentanyl rise is driven by drug dealers who sell it as heroin or who use it to lace cocaine or to make illegal counterfeit prescription opioids. The President's Commission on the crisis has linked the death toll as equivalent to "September 11th every three weeks." In fact, The U.S. Centre for Disease Control (CDC) released data showing that opioid-related overdoses were up 15% in the first three quarters of 2016 compared to 2015. Various governmental organizations including NIDA, are actively seeking solutions. However, we argue that unless the scientific community embraces genetic addiction risk coupled with potential precision or personalized medicine to induce "dopamine homeostasis" it will fail. We now have evidence that a ten-gene and eleven single nucleotide polymorphism (SNP) panel predicts Addiction Severity Index (ASI) for both alcohol and drugs of abuse (e.g., Opioids). In a large multi-addiction centre study involving seven diverse treatment programs, the genetic addiction risk score (GARS ™ ) was shown to have a predictive relationship with ASI-MV derived alcohol (≥ seven alleles), and other drugs (≥ 4 alleles) severity risk scores. In a number of neuroimaging studies, we also display that in both animal (bench) and abstinent Chinese severe heroin-dependent patients (bedside), BOLD dopamine activation across the brain reward circuitry revealed increases in resting state functional connectivity as well volume connectivity. It is also known that published nutrigenomic (coupling gene polymorphisms with altered KB220z) studies reveal improved clinical outcomes related to obesity.

Advanced bioanalytics for precision medicine.

Science.gov (United States)

Roda, Aldo; Michelini, Elisa; Caliceti, Cristiana; Guardigli, Massimo; Mirasoli, Mara; Simoni, Patrizia

2018-01-01

Precision medicine is a new paradigm that combines diagnostic, imaging, and analytical tools to produce accurate diagnoses and therapeutic interventions tailored to the individual patient. This approach stands in contrast to the traditional "one size fits all" concept, according to which researchers develop disease treatments and preventions for an "average" patient without considering individual differences. The "one size fits all" concept has led to many ineffective or inappropriate treatments, especially for pathologies such as Alzheimer's disease and cancer. Now, precision medicine is receiving massive funding in many countries, thanks to its social and economic potential in terms of improved disease prevention, diagnosis, and therapy. Bioanalytical chemistry is critical to precision medicine. This is because identifying an appropriate tailored therapy requires researchers to collect and analyze information on each patient's specific molecular biomarkers (e.g., proteins, nucleic acids, and metabolites). In other words, precision diagnostics is not possible without precise bioanalytical chemistry. This Trend article highlights some of the most recent advances, including massive analysis of multilayer omics, and new imaging technique applications suitable for implementing precision medicine. Graphical abstract Precision medicine combines bioanalytical chemistry, molecular diagnostics, and imaging tools for performing accurate diagnoses and selecting optimal therapies for each patient.

Transforming Cancer Prevention through Precision Medicine and Immune-oncology.

Science.gov (United States)

Kensler, Thomas W; Spira, Avrum; Garber, Judy E; Szabo, Eva; Lee, J Jack; Dong, Zigang; Dannenberg, Andrew J; Hait, William N; Blackburn, Elizabeth; Davidson, Nancy E; Foti, Margaret; Lippman, Scott M

2016-01-01

We have entered a transformative period in cancer prevention (including early detection). Remarkable progress in precision medicine and immune-oncology, driven by extraordinary recent advances in genome-wide sequencing, big-data analytics, blood-based technologies, and deep understanding of the tumor immune microenvironment (TME), has provided unprecedented possibilities to study the biology of premalignancy. The pace of research and discovery in precision medicine and immunoprevention has been astonishing and includes the following clinical firsts reported in 2015: driver mutations detected in circulating cell-free DNA in patients with premalignant lesions (lung); clonal hematopoiesis shown to be a premalignant state; molecular selection in chemoprevention randomized controlled trial (RCT; oral); striking efficacy in RCT of combination chemoprevention targeting signaling pathway alterations mechanistically linked to germline mutation (duodenum); molecular markers for early detection validated for lung cancer and showing promise for pancreatic, liver, and ovarian cancer. Identification of HPV as the essential cause of a major global cancer burden, including HPV16 as the single driver of an epidemic of oropharyngeal cancer in men, provides unique opportunities for the dissemination and implementation of public health interventions. Important to immunoprevention beyond viral vaccines, genetic drivers of premalignant progression were associated with increasing immunosuppressive TME; and Kras vaccine efficacy in pancreas genetically engineered mouse (GEM) model required an inhibitory adjuvant (Treg depletion). In addition to developing new (e.g., epigenetic) TME regulators, recent mechanistic studies of repurposed drugs (aspirin, metformin, and tamoxifen) have identified potent immune activity. Just as precision medicine and immune-oncology are revolutionizing cancer therapy, these approaches are transforming cancer prevention. Here, we set out a brief agenda for the

Design and Construction for Community Health Service Precision Fund Appropriation System Based on Performance Management.

Science.gov (United States)

Gao, Xing; He, Yao; Hu, Hongpu

2017-01-01

Allowing for the differences in economy development, informatization degree and characteristic of population served and so on among different community health service organizations, community health service precision fund appropriation system based on performance management is designed, which can provide support for the government to appropriate financial funds scientifically and rationally for primary care. The system has the characteristic of flexibility and practicability, in which there are five subsystems including data acquisition, parameter setting, fund appropriation, statistical analysis system and user management.

Genetics Home Reference: Miller syndrome

Science.gov (United States)

... Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002 Dec 30; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

Precision-Recall-Gain Curves:PR Analysis Done Right

OpenAIRE

Flach, Peter; Kull, Meelis

2015-01-01

Precision-Recall analysis abounds in applications of binary classification where true negatives do not add value and hence should not affect assessment of the classifier's performance. Perhaps inspired by the many advantages of receiver operating characteristic (ROC) curves and the area under such curves for accuracy-based performance assessment, many researchers have taken to report Precision-Recall (PR) curves and associated areas as performance metric. We demonstrate in this paper that thi...

Correlations among Jamaican 12th-Graders' Five Variables and Performance in Genetics

Science.gov (United States)

Bloomfield, Deen-Paul; Soyibo, Kola

2008-01-01

This study was aimed at finding out if the level of performance of selected Jamaican Grade 12 students on an achievement test on the concept of genetics was satisfactory; if there were statistically significant differences in their performance on the concept linked to their gender, self-esteem, cognitive abilities in biology, school-type and…

A Hybrid Neural Network-Genetic Algorithm Technique for Aircraft Engine Performance Diagnostics

Science.gov (United States)

Kobayashi, Takahisa; Simon, Donald L.

2001-01-01

In this paper, a model-based diagnostic method, which utilizes Neural Networks and Genetic Algorithms, is investigated. Neural networks are applied to estimate the engine internal health, and Genetic Algorithms are applied for sensor bias detection and estimation. This hybrid approach takes advantage of the nonlinear estimation capability provided by neural networks while improving the robustness to measurement uncertainty through the application of Genetic Algorithms. The hybrid diagnostic technique also has the ability to rank multiple potential solutions for a given set of anomalous sensor measurements in order to reduce false alarms and missed detections. The performance of the hybrid diagnostic technique is evaluated through some case studies derived from a turbofan engine simulation. The results show this approach is promising for reliable diagnostics of aircraft engines.

Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics.

Science.gov (United States)

Pulley, Jill M; Shirey-Rice, Jana K; Lavieri, Robert R; Jerome, Rebecca N; Zaleski, Nicole M; Aronoff, David M; Bastarache, Lisa; Niu, Xinnan; Holroyd, Kenneth J; Roden, Dan M; Skaar, Eric P; Niswender, Colleen M; Marnett, Lawrence J; Lindsley, Craig W; Ekstrom, Leeland B; Bentley, Alan R; Bernard, Gordon R; Hong, Charles C; Denny, Joshua C

2017-04-01

The potential impact of using human genetic data linked to longitudinal electronic medical records on drug development is extraordinary; however, the practical application of these data necessitates some organizational innovations. Vanderbilt has created resources such as an easily queried database of >2.6 million de-identified electronic health records linked to BioVU, which is a DNA biobank with more than 230,000 unique samples. To ensure these data are used to maximally benefit and accelerate both de novo drug discovery and drug repurposing efforts, we created the Accelerating Drug Development and Repurposing Incubator, a multidisciplinary think tank of experts in various therapeutic areas within both basic and clinical science as well as experts in legal, business, and other operational domains. The Incubator supports a diverse pipeline of drug indication finding projects, leveraging the natural experiment of human genetics.

Genetics Home Reference: trisomy 13

Science.gov (United States)

... 15;93(6):801-3. Citation on PubMed Hall HE, Chan ER, Collins A, Judis L, Shirley S, ... CRISPR-Cas9? What is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? ...

Influence of non-ideal performance of lasers on displacement precision in single-grating heterodyne interferometry

Science.gov (United States)

Wang, Guochao; Xie, Xuedong; Yan, Shuhua

2010-10-01

Principle of the dual-wavelength single grating nanometer displacement measuring system, with a long range, high precision, and good stability, is presented. As a result of the nano-level high-precision displacement measurement, the error caused by a variety of adverse factors must be taken into account. In this paper, errors, due to the non-ideal performance of the dual-frequency laser, including linear error caused by wavelength instability and non-linear error caused by elliptic polarization of the laser, are mainly discussed and analyzed. On the basis of theoretical modeling, the corresponding error formulas are derived as well. Through simulation, the limit value of linear error caused by wavelength instability is 2nm, and on the assumption that 0.85 x T = , 1 Ty = of the polarizing beam splitter(PBS), the limit values of nonlinear-error caused by elliptic polarization are 1.49nm, 2.99nm, 4.49nm while the non-orthogonal angle is selected correspondingly at 1°, 2°, 3° respectively. The law of the error change is analyzed based on different values of Tx and Ty .

Performance Evaluation of a Bench-Top Precision Glass Molding Machine

Directory of Open Access Journals (Sweden)

Peter Wachtel

2013-01-01

Full Text Available A Dyna Technologies Inc. GP-5000HT precision glass molding machine has been found to be a capable tool for bridging the gap between research-level instruments and the higher volume production machines typically used in industry, providing a means to apply the results of rigorous instrumentation analysis performed in the lab to industrial PGM applications. The GP-5000HT's thermal and mechanical functionality is explained and characterized through the measurement baseline functionality and the associated error. These baseline measurements were used to determine the center thickness repeatability of pressed glass parts, which is the main metric used in industrial pressing settings. The baselines and the repeatability tests both confirmed the need for three warm-up pressing cycles before the press reaches a thermal steady state. The baselines used for pressing a 2 mm glass piece to a 1 mm target center thickness yielded an average center thickness of 1.001 mm and a standard deviation of thickness of 0.0055 mm for glass samples pressed over 3 consecutive days. The baseline tests were then used to deconvolve the sources of error of final pressed piece center thickness.

How to Perform Precise Soil and Sediment Sampling? One solution: The Fine Increment Soil Collector (FISC)

Energy Technology Data Exchange (ETDEWEB)

Mabit, L.; Toloza, A. [Soil and Water Management and Crop Nutrition Laboratory, IAEA, Seibersdorf (Austria); Meusburger, K.; Alewell, C. [Environmental Geosciences, Department of Environmental Sciences, University of Basel, Basel (Switzerland); Iurian, A-R. [Babes-Bolyai University, Faculty of Environmental Science and Engineering, Cluj-Napoca (Romania); Owens, P. N. [Environmental Science Program and Quesnel River Research Centre, University of Northern British Columbia, Prince George, British Columbia (Canada)

2014-07-15

Soil and sediment related research for terrestrial agrienvironmental assessments requires accurate depth incremental sampling to perform detailed analysis of physical, geochemical and biological properties of soil and exposed sediment profiles. Existing equipment does not allow collecting soil/sediment increments at millimetre resolution. The Fine Increment Soil Collector (FISC), developed by the SWMCN Laboratory, allows much greater precision in incremental soil/sediment sampling. It facilitates the easy recovery of collected material by using a simple screw-thread extraction system (see Figure 1). The FISC has been designed specifically to enable standardized scientific investigation of shallow soil/sediment samples. In particular, applications have been developed in two IAEA Coordinated Research Projects (CRPs): CRP D1.20.11 on “Integrated Isotopic Approaches for an Area-wide Precision Conservation to Control the Impacts of Agricultural Practices on Land Degradation and Soil Erosion” and CRP D1.50.15 on “Response to Nuclear Emergencies Affecting Food and Agriculture.”.

How to Perform Precise Soil and Sediment Sampling? One solution: The Fine Increment Soil Collector (FISC)

International Nuclear Information System (INIS)

Mabit, L.; Toloza, A.; Meusburger, K.; Alewell, C.; Iurian, A-R.; Owens, P.N.

2014-01-01

Soil and sediment related research for terrestrial agrienvironmental assessments requires accurate depth incremental sampling to perform detailed analysis of physical, geochemical and biological properties of soil and exposed sediment profiles. Existing equipment does not allow collecting soil/sediment increments at millimetre resolution. The Fine Increment Soil Collector (FISC), developed by the SWMCN Laboratory, allows much greater precision in incremental soil/sediment sampling. It facilitates the easy recovery of collected material by using a simple screw-thread extraction system (see Figure 1). The FISC has been designed specifically to enable standardized scientific investigation of shallow soil/sediment samples. In particular, applications have been developed in two IAEA Coordinated Research Projects (CRPs): CRP D1.20.11 on “Integrated Isotopic Approaches for an Area-wide Precision Conservation to Control the Impacts of Agricultural Practices on Land Degradation and Soil Erosion” and CRP D1.50.15 on “Response to Nuclear Emergencies Affecting Food and Agriculture.”

The genetics of overwintering performance in two-year old common carp and its relation to performance until market size.

Science.gov (United States)

Prchal, Martin; Kause, Antti; Vandeputte, Marc; Gela, David; Allamellou, Jean-Michel; Kumar, Girish; Bestin, Anastasia; Bugeon, Jérôme; Zhao, Jinfeng; Kocour, Martin

2018-01-01

Using farmed common carp, we investigated the genetic background of the second year overwintering performance and its relation to the performance during the third growing season and at market size. The experimental stock was established by partial factorial design with a series of 4 factorial matings of 5 dams and 10 sires each. The families were reared communally and pedigree was re-constructed with 93.6% success using 12 microsatellites on 2008 offspring. Three successive recordings (second autumn, third spring, and third autumn-market size) covering two periods (second overwintering, third growing season) were included. Body weight, Fulton's condition factor and percent muscle fat content were recorded at all times and headless carcass yield and fillet yield were recorded at market size. Specific growth rate, absolute and relative fat change and overall survival were calculated for each period. Heritability estimates were significantly different from zero and almost all traits were moderately to highly heritable (h2 = 0.36-1.00), except survival in both periods and fat change (both patterns) during overwintering (h2 = 0.12-0.15). Genetic and phenotypic correlations imply that selection against weight loss and fat loss during overwintering is expected to lead to a better winter survival, together with a positive effect on growth in the third growing season. Interestingly, higher muscle fat content was genetically correlated to lower survival in the following period (rg = -0.59; -0.53, respectively for winter and the third summer). On the other hand, higher muscle fat was also genetically linked to better slaughter yields. Moreover, selection for higher condition factor would lead to better performance during winter, growing season and at market size.

Performance evaluations of continuous glucose monitoring systems: precision absolute relative deviation is part of the assessment.

Science.gov (United States)

Obermaier, Karin; Schmelzeisen-Redeker, Günther; Schoemaker, Michael; Klötzer, Hans-Martin; Kirchsteiger, Harald; Eikmeier, Heino; del Re, Luigi

2013-07-01

Even though a Clinical and Laboratory Standards Institute proposal exists on the design of studies and performance criteria for continuous glucose monitoring (CGM) systems, it has not yet led to a consistent evaluation of different systems, as no consensus has been reached on the reference method to evaluate them or on acceptance levels. As a consequence, performance assessment of CGM systems tends to be inconclusive, and a comparison of the outcome of different studies is difficult. Published information and available data (as presented in this issue of Journal of Diabetes Science and Technology by Freckmann and coauthors) are used to assess the suitability of several frequently used methods [International Organization for Standardization, continuous glucose error grid analysis, mean absolute relative deviation (MARD), precision absolute relative deviation (PARD)] when assessing performance of CGM systems in terms of accuracy and precision. The combined use of MARD and PARD seems to allow for better characterization of sensor performance. The use of different quantities for calibration and evaluation, e.g., capillary blood using a blood glucose (BG) meter versus venous blood using a laboratory measurement, introduces an additional error source. Using BG values measured in more or less large intervals as the only reference leads to a significant loss of information in comparison with the continuous sensor signal and possibly to an erroneous estimation of sensor performance during swings. Both can be improved using data from two identical CGM sensors worn by the same patient in parallel. Evaluation of CGM performance studies should follow an identical study design, including sufficient swings in glycemia. At least a part of the study participants should wear two identical CGM sensors in parallel. All data available should be used for evaluation, both by MARD and PARD, a good PARD value being a precondition to trust a good MARD value. Results should be analyzed and

The role of common genetic variants in atrial fibrillation

DEFF Research Database (Denmark)

Paludan-Muller, Christian; Svendsen, Jesper H.; Olesen, Morten S.

2016-01-01

lone AF, has a substantial genetic component. A number of genome-wide association studies (GWAS) have indicated that common genetic variants, more precisely the so called single-nucleotide polymorphisms (SNPs) are associated with AF. Presently more than 10 genomic regions have been identified using...

Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits.

Science.gov (United States)

Shi, Huwenbo; Mancuso, Nicholas; Spendlove, Sarah; Pasaniuc, Bogdan

2017-11-02

Although genetic correlations between complex traits provide valuable insights into epidemiological and etiological studies, a precise quantification of which genomic regions disproportionately contribute to the genome-wide correlation is currently lacking. Here, we introduce ρ-HESS, a technique to quantify the correlation between pairs of traits due to genetic variation at a small region in the genome. Our approach requires GWAS summary data only and makes no distributional assumption on the causal variant effect sizes while accounting for linkage disequilibrium (LD) and overlapping GWAS samples. We analyzed large-scale GWAS summary data across 36 quantitative traits, and identified 25 genomic regions that contribute significantly to the genetic correlation among these traits. Notably, we find 6 genomic regions that contribute to the genetic correlation of 10 pairs of traits that show negligible genome-wide correlation, further showcasing the power of local genetic correlation analyses. Finally, we report the distribution of local genetic correlations across the genome for 55 pairs of traits that show putative causal relationships. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Genetics Home Reference: GABA-transaminase deficiency

Science.gov (United States)

... Description GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy. Babies with this disorder ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

Variability in the Precision of Children’s Spatial Working Memory

Directory of Open Access Journals (Sweden)

Elena M. Galeano Weber

2018-02-01

Full Text Available Cognitive modeling studies in adults have established that visual working memory (WM capacity depends on the representational precision, as well as its variability from moment to moment. By contrast, visuospatial WM performance in children has been typically indexed by response accuracy—a binary measure that provides less information about precision with which items are stored. Here, we aimed at identifying whether and how children’s WM performance depends on the spatial precision and its variability over time in real-world contexts. Using smartphones, 110 Grade 3 and Grade 4 students performed a spatial WM updating task three times a day in school and at home for four weeks. Measures of spatial precision (i.e., Euclidean distance between presented and reported location were used for hierarchical modeling to estimate variability of spatial precision across different time scales. Results demonstrated considerable within-person variability in spatial precision across items within trials, from trial to trial and from occasion to occasion within days and from day to day. In particular, item-to-item variability was systematically increased with memory load and lowered with higher grade. Further, children with higher precision variability across items scored lower in measures of fluid intelligence. These findings emphasize the important role of transient changes in spatial precision for the development of WM.

Food safety evaluation of crops produced through genetic engineering--how to reduce unintended effects?

Science.gov (United States)

Jelenić, Srećko

2005-06-01

Scientists started applying genetic engineering techniques to improve crops two decades ago; about 70 varieties obtained via genetic engineering have been approved to date. Although genetic engineering offers the most precise and controllable genetic modification of crops in entire history of plant improvement, the site of insertion of a desirable gene cannot be predicted during the application of this technology. As a consequence, unintended effects might occur due to activation or silencing of genes, giving rise to allergic reactions or toxicity. Therefore, extensive chemical, biochemical and nutritional analyses are performed on each new genetically engineered variety. Since the unintended effects may be predictable on the basis of what is known about the insertion place of the transgenic DNA, an important aim of plant biotechnology is to define techniques for the insertion of transgene into the predetermined chromosomal position (gene targeting). Although gene targeting cannot be applied routinely in crop plants, given the recent advances, that goal may be reached in the near future.

The New Genetics and Natural versus Artificial Genetic Modification

Directory of Open Access Journals (Sweden)

Mae-Wan Ho

2013-11-01

Full Text Available The original rationale and impetus for artificial genetic modification was the “central dogma” of molecular biology that assumed DNA carries all the instructions for making an organism, which are transmitted via RNA to protein to biological function in linear causal chains. This is contrary to the reality of the “fluid genome” that has emerged since the mid-1970s. In order to survive, the organism needs to engage in natural genetic modification in real time, an exquisitely precise molecular dance of life with RNA and DNA responding to and participating in “downstream” biological functions. Artificial genetic modification, in contrast, is crude, imprecise, and interferes with the natural process. It drives natural systems towards maximum biosemiotic entropy as the perturbations are propagated and amplified through the complex cascades of interactions between subsystems that are essential for health and longevity.

Empirical study of self-configuring genetic programming algorithm performance and behaviour

International Nuclear Information System (INIS)

KrasnoyarskiyRabochiy prospect, Krasnoyarsk, 660014 (Russian Federation))" data-affiliation=" (Siberian State Aerospace University named after Academician M.F. Reshetnev 31 KrasnoyarskiyRabochiy prospect, Krasnoyarsk, 660014 (Russian Federation))" >Semenkin, E; KrasnoyarskiyRabochiy prospect, Krasnoyarsk, 660014 (Russian Federation))" data-affiliation=" (Siberian State Aerospace University named after Academician M.F. Reshetnev 31 KrasnoyarskiyRabochiy prospect, Krasnoyarsk, 660014 (Russian Federation))" >Semenkina, M

2015-01-01

The behaviour of the self-configuring genetic programming algorithm with a modified uniform crossover operator that implements a selective pressure on the recombination stage, is studied over symbolic programming problems. The operator's probabilistic rates interplay is studied and the role of operator variants on algorithm performance is investigated. Algorithm modifications based on the results of investigations are suggested. The performance improvement of the algorithm is demonstrated by the comparative analysis of suggested algorithms on the benchmark and real world problems

Hippocampal function is not required for the precision of remote place memory

Directory of Open Access Journals (Sweden)

Kitamura Takashi

2012-02-01

Full Text Available Abstract Background During permanent memory formation, recall of acquired place memories initially depends on the hippocampus and eventually become hippocampus-independent with time. It has been suggested that the quality of original place memories also transforms from a precise form to a less precise form with similar time course. The question arises of whether the quality of original place memories is determined by brain regions on which the memory depends. Results To directly test this idea, we introduced a new procedure: a non-associative place recognition memory test in mice. Combined with genetic and pharmacological approaches, our analyses revealed that place memory is precisely maintained for 28 days, although the recall of place memory shifts from hippocampus-dependent to hippocampus-independent with time. Moreover, the inactivation of the hippocampal function does not inhibit the precision of remote place memory. Conclusion These results indicate that the quality of place memories is not determined by brain regions on which the memory depends.

Geographies of Conservation I: De-extinction and Precision Conservation

OpenAIRE

Adams, William Mark

2016-01-01

Extinction has long been a central concern in biodiversity conservation. Today, de-extinction offers interesting possibilities of restoring charismatic species and ecosystem function, but also risks and costs. Most de-extinction depends on genetic engineering and synthetic biology. These technologies are also proposed for use in ‘gene tweaking’ in wild species to enhance their chance of survival. Within conservation, the resulting debates pit an optimistic world of high-tech ‘precision con...

The effect of joystick handle size and gain at two levels of required precision on performance and physical load on crane operators

NARCIS (Netherlands)

Huysmans, M.A.; Looze, M.P. de; Hoozemans, M.J.M.; Beek, A.J. van der; Dieën, J.H. van

2006-01-01

The study was designed to determine the effect of joystick handle size and (display-control) gain at two levels of required task precision on performance and physical load on crane operators. Eight experienced crane operators performed a simulated crane operation task on a computer by use of a

Optimization-Based Image Segmentation by Genetic Algorithms

Directory of Open Access Journals (Sweden)

Rosenberger C

2008-01-01

Full Text Available Abstract Many works in the literature focus on the definition of evaluation metrics and criteria that enable to quantify the performance of an image processing algorithm. These evaluation criteria can be used to define new image processing algorithms by optimizing them. In this paper, we propose a general scheme to segment images by a genetic algorithm. The developed method uses an evaluation criterion which quantifies the quality of an image segmentation result. The proposed segmentation method can integrate a local ground truth when it is available in order to set the desired level of precision of the final result. A genetic algorithm is then used in order to determine the best combination of information extracted by the selected criterion. Then, we show that this approach can either be applied for gray-levels or multicomponents images in a supervised context or in an unsupervised one. Last, we show the efficiency of the proposed method through some experimental results on several gray-levels and multicomponents images.

Optimization-Based Image Segmentation by Genetic Algorithms

Directory of Open Access Journals (Sweden)

H. Laurent

2008-05-01

Full Text Available Many works in the literature focus on the definition of evaluation metrics and criteria that enable to quantify the performance of an image processing algorithm. These evaluation criteria can be used to define new image processing algorithms by optimizing them. In this paper, we propose a general scheme to segment images by a genetic algorithm. The developed method uses an evaluation criterion which quantifies the quality of an image segmentation result. The proposed segmentation method can integrate a local ground truth when it is available in order to set the desired level of precision of the final result. A genetic algorithm is then used in order to determine the best combination of information extracted by the selected criterion. Then, we show that this approach can either be applied for gray-levels or multicomponents images in a supervised context or in an unsupervised one. Last, we show the efficiency of the proposed method through some experimental results on several gray-levels and multicomponents images.

Precision Scaling of Neural Networks for Efficient Audio Processing

OpenAIRE

Ko, Jong Hwan; Fromm, Josh; Philipose, Matthai; Tashev, Ivan; Zarar, Shuayb

2017-01-01

While deep neural networks have shown powerful performance in many audio applications, their large computation and memory demand has been a challenge for real-time processing. In this paper, we study the impact of scaling the precision of neural networks on the performance of two common audio processing tasks, namely, voice-activity detection and single-channel speech enhancement. We determine the optimal pair of weight/neuron bit precision by exploring its impact on both the performance and ...

The use of vector bootstrapping to improve variable selection precision in Lasso models

NARCIS (Netherlands)

Laurin, C.; Boomsma, D.I.; Lubke, G.H.

2016-01-01

The Lasso is a shrinkage regression method that is widely used for variable selection in statistical genetics. Commonly, K-fold cross-validation is used to fit a Lasso model. This is sometimes followed by using bootstrap confidence intervals to improve precision in the resulting variable selections.

Technological advances in precision medicine and drug development.

Science.gov (United States)

Maggi, Elaine; Patterson, Nicole E; Montagna, Cristina

New technologies are rapidly becoming available to expand the arsenal of tools accessible for precision medicine and to support the development of new therapeutics. Advances in liquid biopsies, which analyze cells, DNA, RNA, proteins, or vesicles isolated from the blood, have gained particular interest for their uses in acquiring information reflecting the biology of tumors and metastatic tissues. Through advancements in DNA sequencing that have merged unprecedented accuracy with affordable cost, personalized treatments based on genetic variations are becoming a real possibility. Extraordinary progress has been achieved in the development of biological therapies aimed to even further advance personalized treatments. We provide a summary of current and future applications of blood based liquid biopsies and how new technologies are utilized for the development of biological therapeutic treatments. We discuss current and future sequencing methods with an emphasis on how technological advances will support the progress in the field of precision medicine.

The emergence of precision therapeutics: New challenges and opportunities for Canada's health leaders.

Science.gov (United States)

Slater, Jim; Shields, Laura; Racette, Ray J; Juzwishin, Donald; Coppes, Max

2015-11-01

In the era of personalized and precision medicine, the approach to healthcare is quickly changing. Genetic and other molecular information are being increasingly demanded by clinicians and expected by patients for prevention, screening, diagnosis, prognosis, health promotion, and treatment of an increasing number of conditions. As a result of these developments, Canadian health leaders must understand and be prepared to lead the necessary changes associated with these disruptive technologies. This article focuses on precision therapeutics but also provides background on the concepts and terminology related to personalized and precision medicine and explores Canadian health leadership and system issues that may pose barriers to their implementation. The article is intended to inspire, educate, and mobilize Canadian health leaders to initiate dialogue around the transformative changes necessary to ready the healthcare system to realize the benefits of precision therapeutics. © 2015 Collège canadien des leaders en santé

Genetics for the ophthalmologist

Directory of Open Access Journals (Sweden)

Karthikeyan A Sadagopan

2012-01-01

Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

Precise Truss Assembly Using Commodity Parts and Low Precision Welding

Science.gov (United States)

Komendera, Erik; Reishus, Dustin; Dorsey, John T.; Doggett, W. R.; Correll, Nikolaus

2014-01-01

Hardware and software design and system integration for an intelligent precision jigging robot (IPJR), which allows high precision assembly using commodity parts and low-precision bonding, is described. Preliminary 2D experiments that are motivated by the problem of assembling space telescope optical benches and very large manipulators on orbit using inexpensive, stock hardware and low-precision welding are also described. An IPJR is a robot that acts as the precise "jigging", holding parts of a local structure assembly site in place, while an external low precision assembly agent cuts and welds members. The prototype presented in this paper allows an assembly agent (for this prototype, a human using only low precision tools), to assemble a 2D truss made of wooden dowels to a precision on the order of millimeters over a span on the order of meters. The analysis of the assembly error and the results of building a square structure and a ring structure are discussed. Options for future work, to extend the IPJR paradigm to building in 3D structures at micron precision are also summarized.

Detergents: Friends not foes for high-performance membrane proteomics toward precision medicine.

Science.gov (United States)

Zhang, Xi

2017-02-01

Precision medicine, particularly therapeutics, emphasizes the atomic-precise, dynamic, and systems visualization of human membrane proteins and their endogenous modifiers. For years, bottom-up proteomics has grappled with removing and avoiding detergents, yet faltered at the therapeutic-pivotal membrane proteins, which have been tackled by classical approaches and are known for decades refractory to single-phase aqueous or organic denaturants. Hydrophobicity and aggregation commonly challenge tissue and cell lysates, biofluids, and enriched samples. Frequently, expected membrane proteins and peptides are not identified by shotgun bottom-up proteomics, let alone robust quantitation. This review argues the cause of this proteomic crisis is not detergents per se, but the choice of detergents. Recently, inclusion of compatible detergents for membrane protein extraction and digestion has revealed stark improvements in both quantitative and structural proteomics. This review analyzes detergent properties behind recent proteomic advances, and proposes that rational use of detergents may reconcile outstanding membrane proteomics dilemmas, enabling ultradeep coverage and minimal artifacts for robust protein and endogenous PTM measurements. The simplicity of detergent tools confers bottom-up membrane proteomics the sophistication toward precision medicine. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Universal precision sine bar attachment

Science.gov (United States)

Mann, Franklin D. (Inventor)

1989-01-01

This invention relates to an attachment for a sine bar which can be used to perform measurements during lathe operations or other types of machining operations. The attachment can be used for setting precision angles on vises, dividing heads, rotary tables and angle plates. It can also be used in the inspection of machined parts, when close tolerances are required, and in the layout of precision hardware. The novelty of the invention is believed to reside in a specific versatile sine bar attachment for measuring a variety of angles on a number of different types of equipment.

LDPC decoder with a limited-precision FPGA-based floating-point multiplication coprocessor

Science.gov (United States)

Moberly, Raymond; O'Sullivan, Michael; Waheed, Khurram

2007-09-01

Implementing the sum-product algorithm, in an FPGA with an embedded processor, invites us to consider a tradeoff between computational precision and computational speed. The algorithm, known outside of the signal processing community as Pearl's belief propagation, is used for iterative soft-decision decoding of LDPC codes. We determined the feasibility of a coprocessor that will perform product computations. Our FPGA-based coprocessor (design) performs computer algebra with significantly less precision than the standard (e.g. integer, floating-point) operations of general purpose processors. Using synthesis, targeting a 3,168 LUT Xilinx FPGA, we show that key components of a decoder are feasible and that the full single-precision decoder could be constructed using a larger part. Soft-decision decoding by the iterative belief propagation algorithm is impacted both positively and negatively by a reduction in the precision of the computation. Reducing precision reduces the coding gain, but the limited-precision computation can operate faster. A proposed solution offers custom logic to perform computations with less precision, yet uses the floating-point format to interface with the software. Simulation results show the achievable coding gain. Synthesis results help theorize the the full capacity and performance of an FPGA-based coprocessor.

GENETIC DIVERGENCE AND MORPHO - AGRONOMIC PERFORMANCE OF JATROPHA CURCAS L. CLONES FOR SELECTION OF CLONAL VARIETIES

Directory of Open Access Journals (Sweden)

ADRIANA QUEIROZ DE ALMEIDA

2016-01-01

Full Text Available The knowledge about genetic diversity of jatropha crop is important for genetic conservation resources and breeding of this species. The aim of this study was to evaluate the genetic diversity and performance of jatropha clones through morphological characterization to selection of clonal varieties for biofuels production. The clones were obtained through shoot cuttings from previous selection in a population of half - sibs progenies. The morphoagronomic analyses of clones was carried out at 180 days after transplantation and were evaluated plant height, stem diameter, number of primary branches and number of secondary branches, number of bunches and number of fruits per plant. Evaluating clones performance, significant results were found for the number of secondary branches. About analysis of genetic diversity, the measures of dissimilarity genetic varied from 0.62 to 13.11, this way, the UFRBPR14 and UFRBPR15 clones were more divergent. The Tocher method was efficient to verify formation of four groups. The characteristics that most contributed to the divergence among clones were branches number, height and number of bunches, and, stem diameter had lower contribution. The jatropha clones differed only in the secondary branches number and multivariate analysis showed divergence among the jatropha clones with formation of four groups. Also, branches number, plant height and number of bunches were characteristic that contributed to genetic divergence.

Genetics Home Reference: autosomal recessive primary microcephaly

Science.gov (United States)

... microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005 May;76( ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

Genetics of gallstone disease.

Directory of Open Access Journals (Sweden)

Mittal B

2002-04-01

Full Text Available Gallstone disease is a complex disorder where both environmental and genetic factors contribute towards susceptibility to the disease. Epidemiological and family studies suggest a strong genetic component in the causation of this disease. Several genetically derived phenotypes in the population are responsible for variations in lipoprotein types, which in turn affect the amount of cholesterol available in the gall bladder. The genetic polymorphisms in various genes for apo E, apo B, apo A1, LDL receptor, cholesteryl ester transfer and LDL receptor-associated protein have been implicated in gallstone formation. However, presently available information on genetic differences is not able to account for a large number of gallstone patients. The molecular studies in the animal models have not only confirmed the present paradigm of gallstone formation but also helped in identification of novel genes in humans, which might play an important role in pathogenesis of the disease. Precise understanding of such genes and their molecular mechanisms may provide the basis of new targets for rational drug designs and dietary interventions.

Genetic algorithm based on qubits and quantum gates

International Nuclear Information System (INIS)

Silva, Joao Batista Rosa; Ramos, Rubens Viana

2003-01-01

Full text: Genetic algorithm, a computational technique based on the evolution of the species, in which a possible solution of the problem is coded in a binary string, called chromosome, has been used successfully in several kinds of problems, where the search of a minimal or a maximal value is necessary, even when local minima are present. A natural generalization of a binary string is a qubit string. Hence, it is possible to use the structure of a genetic algorithm having a sequence of qubits as a chromosome and using quantum operations in the reproduction in order to find the best solution in some problems of quantum information. For example, given a unitary matrix U what is the pair of qubits that, when applied at the input, provides the output state with maximal entanglement? In order to solve this problem, a population of chromosomes of two qubits was created. The crossover was performed applying the quantum gates CNOT and SWAP at the pair of qubits, while the mutation was performed applying the quantum gates Hadamard, Z and Not in a single qubit. The result was compared with a classical genetic algorithm used to solve the same problem. A hundred simulations using the same U matrix was performed. Both algorithms, hereafter named by CGA (classical) and QGA (using qu bits), reached good results close to 1 however, the number of generations needed to find the best result was lower for the QGA. Another problem where the QGA can be useful is in the calculation of the relative entropy of entanglement. We have tested our algorithm using 100 pure states chosen randomly. The stop criterion used was the error lower than 0.01. The main advantages of QGA are its good precision, robustness and very easy implementation. The main disadvantage is its low velocity, as happen for all kind of genetic algorithms. (author)

Geographic variation in genetic and demographic performance: new insights from an old biogeographical paradigm.

Science.gov (United States)

Pironon, Samuel; Papuga, Guillaume; Villellas, Jesús; Angert, Amy L; García, María B; Thompson, John D

2017-11-01

The 'centre-periphery hypothesis' (CPH) is a long-standing postulate in ecology that states that genetic variation and demographic performance of a species decrease from the centre to the edge of its geographic range. This hypothesis is based on an assumed concordance between geographical peripherality and ecological marginality such that environmental conditions become harsher towards the limits of a species range. In this way, the CPH sets the stage for understanding the causes of distribution limits. To date, no study has examined conjointly the consistency of these postulates. In an extensive literature review we discuss the birth and development of the CPH and provide an assessment of the CPH by reviewing 248 empirical studies in the context of three main themes. First, a decrease in species occurrence towards their range limits was observed in 81% of studies, while only 51% demonstrated reduced abundance of individuals. A decline in genetic variation, increased differentiation among populations and higher rates of inbreeding were demonstrated by roughly one in two studies (47, 45 and 48%, respectively). However, demographic rates, size and population performance less often followed CPH expectations (20-30% of studies). We highlight the impact of important methodological, taxonomic, and biogeographical biases on such validation rates. Second, we found that geographic and ecological marginality gradients are not systematically concordant, which casts doubt on the reliability of a main assumption of the CPH. Finally, we attempt to disentangle the relative contribution of geographical, ecological and historical processes on the spatial distribution of genetic and demographic parameters. While ecological marginality gradients explain variation in species' demographic performance better than geographic gradients, contemporary and historical factors may contribute interactively to spatial patterns of genetic variation. We thereby propose a framework that integrates

Precision control of recombinant gene transcription for CHO cell synthetic biology.

Science.gov (United States)

Brown, Adam J; James, David C

2016-01-01

The next generation of mammalian cell factories for biopharmaceutical production will be genetically engineered to possess both generic and product-specific manufacturing capabilities that may not exist naturally. Introduction of entirely new combinations of synthetic functions (e.g. novel metabolic or stress-response pathways), and retro-engineering of existing functional cell modules will drive disruptive change in cellular manufacturing performance. However, before we can apply the core concepts underpinning synthetic biology (design, build, test) to CHO cell engineering we must first develop practical and robust enabling technologies. Fundamentally, we will require the ability to precisely control the relative stoichiometry of numerous functional components we simultaneously introduce into the host cell factory. In this review we discuss how this can be achieved by design of engineered promoters that enable concerted control of recombinant gene transcription. We describe the specific mechanisms of transcriptional regulation that affect promoter function during bioproduction processes, and detail the highly-specific promoter design criteria that are required in the context of CHO cell engineering. The relative applicability of diverse promoter development strategies are discussed, including re-engineering of natural sequences, design of synthetic transcription factor-based systems, and construction of synthetic promoters. This review highlights the potential of promoter engineering to achieve precision transcriptional control for CHO cell synthetic biology. Copyright © 2015. Published by Elsevier Inc.

Precision measurements of linear scattering density using muon tomography

Science.gov (United States)

Åström, E.; Bonomi, G.; Calliari, I.; Calvini, P.; Checchia, P.; Donzella, A.; Faraci, E.; Forsberg, F.; Gonella, F.; Hu, X.; Klinger, J.; Sundqvist Ökvist, L.; Pagano, D.; Rigoni, A.; Ramous, E.; Urbani, M.; Vanini, S.; Zenoni, A.; Zumerle, G.

2016-07-01

We demonstrate that muon tomography can be used to precisely measure the properties of various materials. The materials which have been considered have been extracted from an experimental blast furnace, including carbon (coke) and iron oxides, for which measurements of the linear scattering density relative to the mass density have been performed with an absolute precision of 10%. We report the procedures that are used in order to obtain such precision, and a discussion is presented to address the expected performance of the technique when applied to heavier materials. The results we obtain do not depend on the specific type of material considered and therefore they can be extended to any application.

Multivariate Meta-Analysis of Genetic Association Studies: A Simulation Study.

Directory of Open Access Journals (Sweden)

Binod Neupane

Full Text Available In a meta-analysis with multiple end points of interests that are correlated between or within studies, multivariate approach to meta-analysis has a potential to produce more precise estimates of effects by exploiting the correlation structure between end points. However, under random-effects assumption the multivariate estimation is more complex (as it involves estimation of more parameters simultaneously than univariate estimation, and sometimes can produce unrealistic parameter estimates. Usefulness of multivariate approach to meta-analysis of the effects of a genetic variant on two or more correlated traits is not well understood in the area of genetic association studies. In such studies, genetic variants are expected to roughly maintain Hardy-Weinberg equilibrium within studies, and also their effects on complex traits are generally very small to modest and could be heterogeneous across studies for genuine reasons. We carried out extensive simulation to explore the comparative performance of multivariate approach with most commonly used univariate inverse-variance weighted approach under random-effects assumption in various realistic meta-analytic scenarios of genetic association studies of correlated end points. We evaluated the performance with respect to relative mean bias percentage, and root mean square error (RMSE of the estimate and coverage probability of corresponding 95% confidence interval of the effect for each end point. Our simulation results suggest that multivariate approach performs similarly or better than univariate method when correlations between end points within or between studies are at least moderate and between-study variation is similar or larger than average within-study variation for meta-analyses of 10 or more genetic studies. Multivariate approach produces estimates with smaller bias and RMSE especially for the end point that has randomly or informatively missing summary data in some individual studies, when

Population genetics of non-genetic traits: Evolutionary roles of stochasticity in gene expression

KAUST Repository

Mineta, Katsuhiko

2015-05-01

The role of stochasticity in evolutionary genetics has long been debated. To date, however, the potential roles of non-genetic traits in evolutionary processes have been largely neglected. In molecular biology, growing evidence suggests that stochasticity in gene expression (SGE) is common and that SGE has major impacts on phenotypes and fitness. Here, we provide a general overview of the potential effects of SGE on population genetic parameters, arguing that SGE can indeed have a profound effect on evolutionary processes. Our analyses suggest that SGE potentially alters the fate of mutations by influencing effective population size and fixation probability. In addition, a genetic control of SGE magnitude could evolve under certain conditions, if the fitness of the less-fit individual increases due to SGE and environmental fluctuation. Although empirical evidence for our arguments is yet to come, methodological developments for precisely measuring SGE in living organisms will further advance our understanding of SGE-driven evolution.

Population genetics of non-genetic traits: Evolutionary roles of stochasticity in gene expression

KAUST Repository

Mineta, Katsuhiko; Matsumoto, Tomotaka; Osada, Naoki; Araki, Hitoshi

2015-01-01

The role of stochasticity in evolutionary genetics has long been debated. To date, however, the potential roles of non-genetic traits in evolutionary processes have been largely neglected. In molecular biology, growing evidence suggests that stochasticity in gene expression (SGE) is common and that SGE has major impacts on phenotypes and fitness. Here, we provide a general overview of the potential effects of SGE on population genetic parameters, arguing that SGE can indeed have a profound effect on evolutionary processes. Our analyses suggest that SGE potentially alters the fate of mutations by influencing effective population size and fixation probability. In addition, a genetic control of SGE magnitude could evolve under certain conditions, if the fitness of the less-fit individual increases due to SGE and environmental fluctuation. Although empirical evidence for our arguments is yet to come, methodological developments for precisely measuring SGE in living organisms will further advance our understanding of SGE-driven evolution.

Induction of the Tn10 Precise Excision in E. coli Cells after Accelerated Heavy Ions Irradiation

CERN Document Server

Zhuravel, D V

2003-01-01

The influence of the irradiation of different kinds on the indication of the structural mutations in the bacteria Escherichia coli is considered. The regularities of the Tn10 precise excision after accelerated ^{4}He and ^{12}C ions irradiations with different linear energy transfer (LET) were investigated. Dose dependences of the survival and relative frequency of the Tn10 precise excision were obtained. It was shown, that the relative frequency of the Tn10 precise excision is the exponential function from the irradiation dose. Relative biological efficiency (RBE), and relative genetic efficiency (RGE) were calculated, and were treated as the function of the LET.

Superior Intraparietal Sulcus Controls the Variability of Visual Working Memory Precision.

Science.gov (United States)

Galeano Weber, Elena M; Peters, Benjamin; Hahn, Tim; Bledowski, Christoph; Fiebach, Christian J

2016-05-18

Limitations of working memory (WM) capacity depend strongly on the cognitive resources that are available for maintaining WM contents in an activated state. Increasing the number of items to be maintained in WM was shown to reduce the precision of WM and to increase the variability of WM precision over time. Although WM precision was recently associated with neural codes particularly in early sensory cortex, we have so far no understanding of the neural bases underlying the variability of WM precision, and how WM precision is preserved under high load. To fill this gap, we combined human fMRI with computational modeling of behavioral performance in a delayed color-estimation WM task. Behavioral results replicate a reduction of WM precision and an increase of precision variability under high loads (5 > 3 > 1 colors). Load-dependent BOLD signals in primary visual cortex (V1) and superior intraparietal sulcus (IPS), measured during the WM task at 2-4 s after sample onset, were modulated by individual differences in load-related changes in the variability of WM precision. Although stronger load-related BOLD increase in superior IPS was related to lower increases in precision variability, thus stabilizing WM performance, the reverse was observed for V1. Finally, the detrimental effect of load on behavioral precision and precision variability was accompanied by a load-related decline in the accuracy of decoding the memory stimuli (colors) from left superior IPS. We suggest that the superior IPS may contribute to stabilizing visual WM performance by reducing the variability of memory precision in the face of higher load. This study investigates the neural bases of capacity limitations in visual working memory by combining fMRI with cognitive modeling of behavioral performance, in human participants. It provides evidence that the superior intraparietal sulcus (IPS) is a critical brain region that influences the variability of visual working memory precision between and

Investigations on the performance of ultrasonic drilling process with special reference to precision machining of advanced ceramics

International Nuclear Information System (INIS)

Adithan, M.; Laroiya, S.C.

1997-01-01

Advanced ceramics are assuming an important role in modern industrial technology. The applications and advantages of using advanced ceramics are many. There are several reasons why we should go in for machining of advanced ceramics after their compacting and sintering. These are discussed in this paper. However, precision machining of advanced ceramics must be economical. Critical technological issues to be addressed in cost effective machining of ceramics include design of machine tools, tooling arrangements, improved yield and precision, relationship of part dimensions and finish specifications to functional performance, and on-line inspection. Considering the above ultrasonic drilling is an important process used for the precision machining of advanced ceramics. Extensive studies on tool wear occurring in the ultrasonic machining of advanced ceramics have been carried out. In addition, production accuracy of holes drilled, surface finish obtained and surface integrity aspects in the machining of advanced ceramics have also been investigated. Some specific findings with reference to surface integrity are: a) there were no cracks or micro-cracks developed during or after ultrasonic machining of advanced ceramics, b) while machining Hexoloy alpha silicon carbide a recast layer is formed as a result of ultrasonic machining. This is attributed to the viscous heating resulting from high energy impacts during ultrasonic machining. While machining all other types of ceramics no such formation of recast layer was observed, and , c) there is no change in the microstructure of the advanced ceramics as a result of ultrasonic machining

Precision Oncology: Between Vaguely Right and Precisely Wrong.

Science.gov (United States)

Brock, Amy; Huang, Sui

2017-12-01

Precision Oncology seeks to identify and target the mutation that drives a tumor. Despite its straightforward rationale, concerns about its effectiveness are mounting. What is the biological explanation for the "imprecision?" First, Precision Oncology relies on indiscriminate sequencing of genomes in biopsies that barely represent the heterogeneous mix of tumor cells. Second, findings that defy the orthodoxy of oncogenic "driver mutations" are now accumulating: the ubiquitous presence of oncogenic mutations in silent premalignancies or the dynamic switching without mutations between various cell phenotypes that promote progression. Most troublesome is the observation that cancer cells that survive treatment still will have suffered cytotoxic stress and thereby enter a stem cell-like state, the seeds for recurrence. The benefit of "precision targeting" of mutations is inherently limited by this counterproductive effect. These findings confirm that there is no precise linear causal relationship between tumor genotype and phenotype, a reminder of logician Carveth Read's caution that being vaguely right may be preferable to being precisely wrong. An open-minded embrace of the latest inconvenient findings indicating nongenetic and "imprecise" phenotype dynamics of tumors as summarized in this review will be paramount if Precision Oncology is ultimately to lead to clinical benefits. Cancer Res; 77(23); 6473-9. ©2017 AACR . ©2017 American Association for Cancer Research.

[Some reflections on evidenced-based medicine, precision medicine, and big data-based research].

Science.gov (United States)

Tang, J L; Li, L M

2018-01-10

Evidence-based medicine remains the best paradigm for medical practice. However, evidence alone is not decisions; decisions must also consider resources available and the values of people. Evidence shows that most of those treated with blood pressure-lowering, cholesterol-lowering, glucose-lowering and anti-cancer drugs do not benefit from preventing severe complications such as cardiovascular events and deaths. This implies that diagnosis and treatment in modern medicine in many circumstances is imprecise. It has become a dream to identify and treat only those few who can respond to the treatment. Precision medicine has thus come into being. Precision medicine is however not a new idea and cannot rely solely on gene sequencing as it was initially proposed. Neither is the large cohort and multi-factorial approach a new idea; in fact it has been used widely since 1950s. Since its very beginning, medicine has never stopped in searching for more precise diagnostic and therapeutic methods and already made achievements at various levels of our understanding and knowledge, such as vaccine, blood transfusion, imaging, and cataract surgery. Genetic biotechnology is not the only path to precision but merely a new method. Most genes are found only weakly associated with disease and are thus unlikely to lead to great improvement in diagnostic and therapeutic precision. The traditional multi-factorial approach by embracing big data and incorporating genetic factors is probably the most realistic way ahead for precision medicine. Big data boasts of possession of the total population and large sample size and claims correlation can displace causation. They are serious misleading concepts. Science has never had to observe the totality in order to draw a valid conclusion; a large sample size is required only when the anticipated effect is small and clinically less meaningful; emphasis on correlation over causation is equivalent to rejection of the scientific principles and methods

Precision Electrophile Tagging in Caenorhabditis elegans.

Science.gov (United States)

Long, Marcus J C; Urul, Daniel A; Chawla, Shivansh; Lin, Hong-Yu; Zhao, Yi; Haegele, Joseph A; Wang, Yiran; Aye, Yimon

2018-01-16

Adduction of an electrophile to privileged sensor proteins and the resulting phenotypically dominant responses are increasingly appreciated as being essential for metazoan health. Functional similarities between the biological electrophiles and electrophilic pharmacophores commonly found in covalent drugs further fortify the translational relevance of these small-molecule signals. Genetically encodable or small-molecule-based fluorescent reporters and redox proteomics have revolutionized the observation and profiling of cellular redox states and electrophile-sensor proteins, respectively. However, precision mapping between specific redox-modified targets and specific responses has only recently begun to be addressed, and systems tractable to both genetic manipulation and on-target redox signaling in vivo remain largely limited. Here we engineer transgenic Caenorhabditis elegans expressing functional HaloTagged fusion proteins and use this system to develop a generalizable light-controlled approach to tagging a prototypical electrophile-sensor protein with native electrophiles in vivo. The method circumvents issues associated with low uptake/distribution and toxicity/promiscuity. Given the validated success of C. elegans in aging studies, this optimized platform offers a new lens with which to scrutinize how on-target electrophile signaling influences redox-dependent life span regulation.

Large Cancer Drug Trial Helps Move Precision Medicine Toward the Mainstream | Poster

Science.gov (United States)

A landmark cancer drug trial is helping set the stage for moving precision medicine into the mainstream of clinical practice, according to a new study. The study, reported in the Journal of Molecular Diagnostics, validates a procedure used in the drug trial that identifies the unique genetic mutations in a patient’s tumor, which is then used as the basis for selecting targeted

GNSS global real-time augmentation positioning: Real-time precise satellite clock estimation, prototype system construction and performance analysis

Science.gov (United States)

Chen, Liang; Zhao, Qile; Hu, Zhigang; Jiang, Xinyuan; Geng, Changjiang; Ge, Maorong; Shi, Chuang

2018-01-01

Lots of ambiguities in un-differenced (UD) model lead to lower calculation efficiency, which isn't appropriate for the high-frequency real-time GNSS clock estimation, like 1 Hz. Mixed differenced model fusing UD pseudo-range and epoch-differenced (ED) phase observations has been introduced into real-time clock estimation. In this contribution, we extend the mixed differenced model for realizing multi-GNSS real-time clock high-frequency updating and a rigorous comparison and analysis on same conditions are performed to achieve the best real-time clock estimation performance taking the efficiency, accuracy, consistency and reliability into consideration. Based on the multi-GNSS real-time data streams provided by multi-GNSS Experiment (MGEX) and Wuhan University, GPS + BeiDou + Galileo global real-time augmentation positioning prototype system is designed and constructed, including real-time precise orbit determination, real-time precise clock estimation, real-time Precise Point Positioning (RT-PPP) and real-time Standard Point Positioning (RT-SPP). The statistical analysis of the 6 h-predicted real-time orbits shows that the root mean square (RMS) in radial direction is about 1-5 cm for GPS, Beidou MEO and Galileo satellites and about 10 cm for Beidou GEO and IGSO satellites. Using the mixed differenced estimation model, the prototype system can realize high-efficient real-time satellite absolute clock estimation with no constant clock-bias and can be used for high-frequency augmentation message updating (such as 1 Hz). The real-time augmentation message signal-in-space ranging error (SISRE), a comprehensive accuracy of orbit and clock and effecting the users' actual positioning performance, is introduced to evaluate and analyze the performance of GPS + BeiDou + Galileo global real-time augmentation positioning system. The statistical analysis of real-time augmentation message SISRE is about 4-7 cm for GPS, whlile 10 cm for Beidou IGSO/MEO, Galileo and about 30 cm

Toward precision medicine and health: Opportunities and challenges in allergic diseases.

Science.gov (United States)

Galli, Stephen Joseph

2016-05-01

Precision medicine (also called personalized, stratified, or P4 medicine) can be defined as the tailoring of preventive measures and medical treatments to the characteristics of each patient to obtain the best clinical outcome for each person while ideally also enhancing the cost-effectiveness of such interventions for patients and society. Clearly, the best clinical outcome for allergic diseases is not to get them in the first place. To emphasize the importance of disease prevention, a critical component of precision medicine can be referred to as precision health, which is defined herein as the use of all available information pertaining to specific subjects (including family history, individual genetic and other biometric information, and exposures to risk factors for developing or exacerbating disease), as well as features of their environments, to sustain and enhance health and prevent the development of disease. In this article I will provide a personal perspective on how the precision health-precision medicine approach can be applied to the related goals of preventing the development of allergic disorders and providing the most effective diagnosis, disease monitoring, and care for those with these prevalent diseases. I will also mention some of the existing and potential challenges to achieving these ambitious goals. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

NARCIS (Netherlands)

C.A. Rietveld (Niels); T. Esko (Tõnu); G. Davies (Gail); T.H. Pers (Tune); P. Turley (Patrick); B. Benyamin (Beben); C.F. Chabris (Christopher F.); V. Emilsson (Valur); A.D. Johnson (Andrew); J.J. Lee (James J.); C. de Leeuw (Christiaan); R.E. Marioni (Riccardo); S.E. Medland (Sarah Elizabeth); M. Miller (Mike); O. Rostapshova (Olga); S.J. van der Lee (Sven); A.A.E. Vinkhuyzen (Anna A.); N. Amin (Najaf); D. Conley (Dalton); J. Derringer; C.M. van Duijn (Cornelia); R.S.N. Fehrmann (Rudolf); L. Franke (Lude); E.L. Glaeser (Edward L.); N.K. Hansell (Narelle); C. Hayward (Caroline); W.G. Iacono (William); C.A. Ibrahim-Verbaas (Carla); V.W.V. Jaddoe (Vincent); J. Karjalainen (Juha); D. Laibson (David); P. Lichtenstein (Paul); D.C. Liewald (David C.); P.K. Magnusson (Patrik); N.G. Martin (Nicholas); M. McGue (Matt); G. Mcmahon (George); N.L. Pedersen (Nancy); S. Pinker (Steven); D.J. Porteous (David J.); D. Posthuma (Danielle); F. Rivadeneira Ramirez (Fernando); B.H. Smithk (Blair H.); J.M. Starr (John); H.W. Tiemeier (Henning); N.J. Timpsonm (Nicholas J.); M. Trzaskowskin (Maciej); A.G. Uitterlinden (André); F.C. Verhulst (Frank); M.E. Ward (Mary); M.J. Wright (Margaret); G.D. Smith; I.J. Deary (Ian J.); M. Johannesson (Magnus); R. Plomin (Robert); P.M. Visscher (Peter); D.J. Benjamin (Daniel J.); D. Cesarini (David); Ph.D. Koellinger (Philipp)

2014-01-01

textabstractWe identify common genetic variants associated with cognitive performance using a two-stage approach, which we call the proxyphenotype method. First, we conduct a genome-wide association study of educational attainment in a large sample (n = 106,736), which produces a set of 69

Towards the application of precision medicine in Age-Related Macular Degeneration.

Science.gov (United States)

Cascella, Raffaella; Strafella, Claudia; Caputo, Valerio; Errichiello, Valeria; Zampatti, Stefania; Milano, Filippo; Potenza, Saverio; Mauriello, Silvestro; Novelli, Giuseppe; Ricci, Federico; Cusumano, Andrea; Giardina, Emiliano

2018-03-01

The review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of disease and non-genetic variants, accounting for 10% of AMD. Our data highlighted prominent differences concerning genetic and non-genetic contributors to AMD in our cohort with respect to worldwide populations. Among genetic variables, SNPs of CFH, ARMS2, IL-8, TIMP3, SLC16A8, RAD51B, VEGFA and COL8A1 were significantly associated with the risk of AMD in the Italian cohort. Surprisingly, other susceptibility variants described in European, American and Asiatic populations, did not reach the significance threshold in our cohort. As expected, advanced age, smoking and dietary habits were associated with the disease. In addition, we also describe a number of gene-gene and gene-phenotype interactions. In fact, AMD-associated genes may be involved in the alteration of Bruch's membrane and induction of angiogenesis, contributing to exacerbate the damage caused by aging and environmental factors. Our review provides an overview of genetic and non-genetic factors characterizing AMD susceptibility in Italian population, outlining the differences with respect to the worldwide populations. Altogether, these data reflect historical, geographic, demographic and lifestyle peculiarities of Italian population. The role of epigenetics, pharmacogenetics, comorbities and genetic counseling in the management of AMD patients have been described, in the perspective of the application of a "population-specific precision medicine" approach addressed to prevent AMD onset and improve patients' quality of life. Copyright © 2017 Elsevier Ltd. All rights reserved.

Mapping SLCO1B1 Genetic Variation for Global Precision Medicine in Understudied Regions in Africa: A Focus on Zulu and Cape Admixed Populations.

Science.gov (United States)

Hoosain, Nisreen; Pearce, Brendon; Jacobs, Clifford; Benjeddou, Mongi

2016-09-01

The U.S. President Barack Obama has announced, in his State of the Union address on January 20, 2015, the Precision Medicine Initiative, a US$215-million program. For global precision medicine to become a reality, however, biological and environmental "variome" in previously understudied populations ought to be mapped and catalogued. Chief among the molecular targets that warrant global mapping is the organic anion-transporting polypeptide 1B1 (OATP1B1), encoded by solute carrier organic anion transporter family member 1B1 (SLCO1B1), a hepatic uptake transporter predominantly expressed in the basolateral side of hepatocytes. Human OATP1B1 plays a crucial role in the transport of a wide variety of substrates. This includes endogenous compounds such as bile salts as well as medicines, including benzylpenicillin, methotrexate, pravastatin, and rifampicin, and natural toxins microcystin and phalloidin. Genetic variations observed in the SLCO1B1 gene have been associated with altered in vitro and in vivo OATP1B1 transport activity, and consequently influencing patients' response to medicines, toxins, and susceptibility to common complex diseases. Well-characterized haplotypes, *5 (RS4149056C) and *15 (RS4149056T), have been associated with a strikingly reduced uptake of multiple OATP1B1 substrates, including estrone-3-sulfate, estradiol-17β-d-glucuronide, atorvastatin, cerivastatin, pravastatin, and rifampicin. In particular, RS4149056C is observed in 60% of the Cape admixed (CA) population and is associated with increased plasma concentrations of many statins as well as fexofenadine and repaglinide. We designed and optimized a SNaPshot minisequencing panel to characterize the variants of relevance for precision medicine in the clinic. We report here the first study on allele and genotype frequencies for 10 nonsynonymous, 4 synonymous, and 6 intronic single-nucleotide polymorphisms of SLCO1B1 in the Zulu and CA populations of South Africa. These variants are further

Genetic privacy.

Science.gov (United States)

Sankar, Pamela

2003-01-01

During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

A Mission Planning Approach for Precision Farming Systems Based on Multi-Objective Optimization

Directory of Open Access Journals (Sweden)

Zhaoyu Zhai

2018-06-01

Full Text Available As the demand for food grows continuously, intelligent agriculture has drawn much attention due to its capability of producing great quantities of food efficiently. The main purpose of intelligent agriculture is to plan agricultural missions properly and use limited resources reasonably with minor human intervention. This paper proposes a Precision Farming System (PFS as a Multi-Agent System (MAS. Components of PFS are treated as agents with different functionalities. These agents could form several coalitions to complete the complex agricultural missions cooperatively. In PFS, mission planning should consider several criteria, like expected benefit, energy consumption or equipment loss. Hence, mission planning could be treated as a Multi-objective Optimization Problem (MOP. In order to solve MOP, an improved algorithm, MP-PSOGA, is proposed, taking advantages of the Genetic Algorithms and Particle Swarm Optimization. A simulation, called precise pesticide spraying mission, is performed to verify the feasibility of the proposed approach. Simulation results illustrate that the proposed approach works properly. This approach enables the PFS to plan missions and allocate scarce resources efficiently. The theoretical analysis and simulation is a good foundation for the future study. Once the proposed approach is applied to a real scenario, it is expected to bring significant economic improvement.

Genetic and Phenotypic Correlations between Performance Traits with Meat Quality and Carcass Characteristics in Commercial Crossbred Pigs

Science.gov (United States)

Miar, Younes; Plastow, Graham; Bruce, Heather; Moore, Stephen; Manafiazar, Ghader; Kemp, Robert; Charagu, Patrick; Huisman, Abe; van Haandel, Benny; Zhang, Chunyan; McKay, Robert; Wang, Zhiquan

2014-01-01

Genetic correlations between performance traits with meat quality and carcass traits were estimated on 6,408 commercial crossbred pigs with performance traits recorded in production systems with 2,100 of them having meat quality and carcass measurements. Significant fixed effects (company, sex and batch), covariates (birth weight, cold carcass weight, and age), random effects (additive, litter and maternal) were fitted in the statistical models. A series of pairwise bivariate analyses were implemented in ASREML to estimate heritability, phenotypic, and genetic correlations between performance traits (n = 9) with meat quality (n = 25) and carcass (n = 19) traits. The animals had a pedigree compromised of 9,439 animals over 15 generations. Performance traits had low-to-moderate heritabilities (±SE), ranged from 0.07±0.13 to 0.45±0.07 for weaning weight, and ultrasound backfat depth, respectively. Genetic correlations between performance and carcass traits were moderate to high. The results indicate that: (a) selection for birth weight may increase drip loss, lightness of longissimus dorsi, and gluteus medius muscles but may reduce fat depth; (b) selection for nursery weight can be valuable for increasing both quantity and quality traits; (c) selection for increased daily gain may increase the carcass weight and most of the primal cuts. These findings suggest that deterioration of pork quality may have occurred over many generations through the selection for less backfat thickness, and feed efficiency, but selection for growth had no adverse effects on pork quality. Low-to-moderate heritabilities for performance traits indicate that they could be improved using traditional selection or genomic selection. The estimated genetic parameters for performance, carcass and meat quality traits may be incorporated into the breeding programs that emphasize product quality in these Canadian swine populations. PMID:25350845

Improving livestock for agriculture - technological progress from random transgenesis to precision genome editing heralds a new era.

Science.gov (United States)

Laible, Götz; Wei, Jingwei; Wagner, Stefan

2015-01-01

Humans have a long history in shaping the genetic makeup of livestock to optimize production and meet growing human demands for food and other animal products. Until recently, this has only been possible through traditional breeding and selection, which is a painstakingly slow process of accumulating incremental gains over a long period. The development of transgenic livestock technology offers a more direct approach with the possibility for making genetic improvements with greater impact and within a single generation. However, initially the technology was hampered by technical difficulties and limitations, which have now largely been overcome by progressive improvements over the past 30 years. Particularly, the advent of genome editing in combination with homologous recombination has added a new level of efficiency and precision that holds much promise for the genetic improvement of livestock using the increasing knowledge of the phenotypic impact of genetic sequence variants. So far not a single line of transgenic livestock has gained approval for commercialization. The step change to genome-edited livestock with precise sequence changes may accelerate the path to market, provided applications of this new technology for agriculture can deliver, in addition to economic incentives for producers, also compelling benefits for animals, consumers, and the environment. Copyright © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

High Precision Current Control for the LHC Main Power Converters

CERN Document Server

Thiesen, H; Hudson, G; King, Q; Montabonnet, V; Nisbet, D; Page, S

2010-01-01

Since restarting at the end of 2009, the LHC has reached a new energy record in March 2010 with the two 3.5 TeV beams. To achieve the performance required for the good functioning of the accelerator, the currents in the main circuits (Main Bends and Main Quadrupoles) must be controlled with a higher precision than ever previously requested for a particle accelerator at CERN: a few parts per million (ppm) of nominal current. This paper describes the different challenges that were overcome to achieve the required precision for the current control of the main circuits. Precision tests performed during the hardware commissioning of the LHC illustrate this paper.

Precision electroweak physics at the Tevatron

International Nuclear Information System (INIS)

James, Eric B.

2006-01-01

An overview of Tevatron electroweak measurements performed by the CDF and Dφ experiments is presented. The current status and future prospects for high precision measurements of electroweak parameters and detailed studies of boson production are highlighted. (author)

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

Science.gov (United States)

Webborn, Nick; Williams, Alun; McNamee, Mike; Bouchard, Claude; Pitsiladis, Yannis; Ahmetov, Ildus; Ashley, Euan; Byrne, Nuala; Camporesi, Silvia; Collins, Malcolm; Dijkstra, Paul; Eynon, Nir; Fuku, Noriyuki; Garton, Fleur C; Hoppe, Nils; Holm, Søren; Kaye, Jane; Klissouras, Vassilis; Lucia, Alejandro; Maase, Kamiel; Moran, Colin; North, Kathryn N; Pigozzi, Fabio; Wang, Guan

2015-01-01

The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify children's athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future. PMID:26582191

Performance improvement of VAV air conditioning system through feedforward compensation decoupling and genetic algorithm

International Nuclear Information System (INIS)

Wang Jun; Wang Yan

2008-01-01

VAV (variable air volume) control system has the feature of multi-control loops. While all the control loops are working together, they interfere and influence each other. This paper designs the decoupling compensation unit in VAV system in the method of feedforward compensation. This paper also designs the controller parameters of VAV system by means of inverse deducing and the genetic algorithm. Experimental results demonstrate that the combination of the feedforward compensation decoupling and the controller optimization by genetic algorithm can improve the performance of the VAV control system

Biomarkers in molecular epidemiology study of oral squamous cell carcinoma in the era of precision medicine

Directory of Open Access Journals (Sweden)

Qing-Hao Zhu

2017-01-01

Full Text Available Oral cancer, which occurs in the mouth, lips, and tongue, is a multifactorial disease whose etiology involves environment, genetic, and epigenetic factors. Tobacco use and alcohol consumption are regarded as the primary risk factors for oral squamous cell carcinoma (OSCC, and betel use, other chemicals, radiation, environmental, and genetics are reported as relevant risk factors for oral carcinogenesis. The human papillomavirus infection is an independent risk factor. Traditional epidemiology studies have revealed that environmental carcinogens are risk factors for OSCC. Molecular epidemiology studies have revealed that the susceptibility to OSCC is influenced by both environmental and genetic risk factors. However, the details and mechanisms of risk factors involved in OSCC are unclear. Advanced methods and techniques used in human genome studies provide great opportunities for researchers to explore and identify (a the details of such risk factors and (b genetic susceptibility involved in OSCC. Human genome epidemiology is a new branch of epidemiology, which leads the epidemiology study from the molecular epidemiology era into the era of genome-wide association study. In the era of precision medicine, molecular epidemiology studies should focus on biomarkers for cancer genomics and their potential utility in clinical practice. Here, we briefly reviewed several molecular epidemiology studies of OSCC, focusing on biomarkers as valuable utility in risk assessment, clinical screening, diagnosis, and prognosis prediction of OSCC in the era of precision medicine.

Is the Cell Nucleus a Necessary Component in Precise Temporal Patterning?

Science.gov (United States)

Albert, Jaroslav; Rooman, Marianne

2015-01-01

One of the functions of the cell nucleus is to help regulate gene expression by controlling molecular traffic across the nuclear envelope. Here we investigate, via stochastic simulation, what effects, if any, does segregation of a system into the nuclear and cytoplasmic compartments have on the stochastic properties of a motif with a negative feedback. One of the effects of the nuclear barrier is to delay the nuclear protein concentration, allowing it to behave in a switch-like manner. We found that this delay, defined as the time for the nuclear protein concentration to reach a certain threshold, has an extremely narrow distribution. To show this, we considered two models. In the first one, the proteins could diffuse freely from cytoplasm to nucleus (simple model); and in the second one, the proteins required assistance from a special class of proteins called importins. For each model, we generated fifty parameter sets, chosen such that the temporal profiles they effectuated were very similar, and whose average threshold time was approximately 150 minutes. The standard deviation of the threshold times computed over one hundred realizations were found to be between 1.8 and 7.16 minutes across both models. To see whether a genetic motif in a prokaryotic cell can achieve this degree of precision, we also simulated five variations on the coherent feed-forward motif (CFFM), three of which contained a negative feedback. We found that the performance of these motifs was nowhere near as impressive as the one found in the eukaryotic cell; the best standard deviation was 6.6 minutes. We argue that the significance of these results, the fact and necessity of spatio-temporal precision in the developmental stages of eukaryotes, and the absence of such a precision in prokaryotes, all suggest that the nucleus has evolved, in part, under the selective pressure to achieve highly predictable phenotypes.

Computational Re-design of Synthetic Genetic Oscillators for Independent Amplitude and Frequency Modulation.

Science.gov (United States)

Tomazou, Marios; Barahona, Mauricio; Polizzi, Karen M; Stan, Guy-Bart

2018-04-25

To perform well in biotechnology applications, synthetic genetic oscillators must be engineered to allow independent modulation of amplitude and period. This need is currently unmet. Here, we demonstrate computationally how two classic genetic oscillators, the dual-feedback oscillator and the repressilator, can be re-designed to provide independent control of amplitude and period and improve tunability-that is, a broad dynamic range of periods and amplitudes accessible through the input "dials." Our approach decouples frequency and amplitude modulation by incorporating an orthogonal "sink module" where the key molecular species are channeled for enzymatic degradation. This sink module maintains fast oscillation cycles while alleviating the translational coupling between the oscillator's transcription factors and output. We characterize the behavior of our re-designed oscillators over a broad range of physiologically reasonable parameters, explain why this facilitates broader function and control, and provide general design principles for building synthetic genetic oscillators that are more precisely controllable. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

Efficiency maximization and performance evaluation of hybrid dual channel semitransparent photovoltaic thermal module using fuzzyfied genetic algorithm

International Nuclear Information System (INIS)

Singh, Sonveer; Agrawal, Sanjay

2016-01-01

Highlights: • Thermal modeling of novel dual channel semitransparent photovoltaic thermal hybrid module. • Efficiency maximization and performance evaluation of dual channel photovoltaic thermal module. • Annual performance has been evaluated for Srinagar, Jodhpur, Bangalore and New Delhi (India). • There are improvements in results for optimized system as compared to un-optimized system. - Abstract: The work has been carried out in two steps; firstly the parameters of hybrid dual channel semitransparent photovoltaic thermal module has been optimized using a fuzzyfied genetic algorithm. During the course of optimization, overall exergy efficiency is considered as an objective function and different design parameters of the proposed module have been optimized. Fuzzy controller is used to improve the performance of genetic algorithms and the approach is called as a fuzzyfied genetic algorithm. In the second step, the performance of the module has been analyzed for four cities of India such as Srinagar, Bangalore, Jodhpur and New Delhi. The performance of the module has been evaluated for daytime 08:00 AM to 05:00 PM and annually from January to December. It is to be noted that, an average improvement occurs in electrical efficiency of the optimized module, simultaneously there is also a reduction in solar cell temperature as compared to un-optimized module.

High Performance Data mining by Genetic Neural Network

Directory of Open Access Journals (Sweden)

Dadmehr Rahbari

2013-10-01

Full Text Available Data mining in computer science is the process of discovering interesting and useful patterns and relationships in large volumes of data. Most methods for mining problems is based on artificial intelligence algorithms. Neural network optimization based on three basic parameters topology, weights and the learning rate is a powerful method. We introduce optimal method for solving this problem. In this paper genetic algorithm with mutation and crossover operators change the network structure and optimized that. Dataset used for our work is stroke disease with twenty features that optimized number of that achieved by new hybrid algorithm. Result of this work is very well incomparison with other similar method. Low present of error show that our method is our new approach to efficient, high-performance data mining problems is introduced.

Genet-specific spawning patterns in Acropora palmata

Science.gov (United States)

Miller, M. W.; Williams, D. E.; Fisch, J.

2016-12-01

The broadcast spawning elkhorn coral, Acropora palmata, requires outcrossing among different genets for effective fertilization. Hence, a low density of genets in parts of its range emphasizes the need for precise synchrony among neighboring genets as sperm concentration dilutes rapidly in open-ocean conditions. We documented the genet-specific nightly occurrence of spawning of A. palmata over 8 yr in a depauperate population in the Florida Keys to better understand this potential reproductive hurdle. The observed population failed to spawn within the predicted monthly window (nights 2-6 after the full moon in August) in three of the 8 yr of observation; negligible spawning was observed in a fourth year. Moreover, genet-specific patterns are evident in that (1) certain genets have significantly greater odds of spawning overall and (2) certain genets predictably spawn on the earlier and others on the later lunar nights within the predicted window. Given the already low genet density in this population, this pattern implies a substantial degree of wasted reproductive effort and supports the hypothesis that depensatory factors are impairing recovery in this species.

HARNESSING BIG DATA FOR PRECISION MEDICINE: INFRASTRUCTURES AND APPLICATIONS.

Science.gov (United States)

Yu, Kun-Hsing; Hart, Steven N; Goldfeder, Rachel; Zhang, Qiangfeng Cliff; Parker, Stephen C J; Snyder, Michael

2017-01-01

Precision medicine is a health management approach that accounts for individual differences in genetic backgrounds and environmental exposures. With the recent advancements in high-throughput omics profiling technologies, collections of large study cohorts, and the developments of data mining algorithms, big data in biomedicine is expected to provide novel insights into health and disease states, which can be translated into personalized disease prevention and treatment plans. However, petabytes of biomedical data generated by multiple measurement modalities poses a significant challenge for data analysis, integration, storage, and result interpretation. In addition, patient privacy preservation, coordination between participating medical centers and data analysis working groups, as well as discrepancies in data sharing policies remain important topics of discussion. In this workshop, we invite experts in omics integration, biobank research, and data management to share their perspectives on leveraging big data to enable precision medicine.Workshop website: http://tinyurl.com/PSB17BigData; HashTag: #PSB17BigData.

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

Science.gov (United States)

Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M

2016-02-01

Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

Pharmacogenetics in type 2 diabetes: precision medicine or discovery tool?

Science.gov (United States)

Florez, Jose C

2017-05-01

In recent years, technological and analytical advances have led to an explosion in the discovery of genetic loci associated with type 2 diabetes. However, their ability to improve prediction of disease outcomes beyond standard clinical risk factors has been limited. On the other hand, genetic effects on drug response may be stronger than those commonly seen for disease incidence. Pharmacogenetic findings may aid in identifying new drug targets, elucidate pathophysiology, unravel disease heterogeneity, help prioritise specific genes in regions of genetic association, and contribute to personalised or precision treatment. In diabetes, precedent for the successful application of pharmacogenetic concepts exists in its monogenic subtypes, such as MODY or neonatal diabetes. Whether similar insights will emerge for the much more common entity of type 2 diabetes remains to be seen. As genetic approaches advance, the progressive deployment of candidate gene, large-scale genotyping and genome-wide association studies has begun to produce suggestive results that may transform clinical practice. However, many barriers to the translation of diabetes pharmacogenetic discoveries to the clinic still remain. This perspective offers a contemporary overview of the field with a focus on sulfonylureas and metformin, identifies the major uses of pharmacogenetics, and highlights potential limitations and future directions.

Genetic engineering applied to agriculture has a long row to hoe.

Science.gov (United States)

Miller, Henry I

2018-01-02

In spite of the lack of scientific justification for skepticism about crops modified with molecular techniques of genetic engineering, they have been the most scrutinized agricultural products in human history. The assumption that "genetically engineered" or "genetically modified" is a meaningful - and dangerous - classification has led to excessive and dilatory regulation. The modern molecular techniques are an extension, or refinement, of older, less precise, less predictable methods of genetic modification, but as long as today's activists and regulators remain convinced that so called "GMOs" represent a distinct and dangerous category of research and products, genetic engineering will fall short of its potential.

Lab Plays Central Role in Groundbreaking National Clinical Trial in Precision Medicine | Poster

Science.gov (United States)

The Molecular Characterization Laboratory lies at the heart of an ambitious new approach for testing cancer drugs that will use the newest tools of precision medicine to select the best treatment for individual patients based on the genetic makeup of their tumors. The protocol, called NCI-Molecular Analysis for Therapy Choice (NCI-MATCH), will start with tumor biopsies from as

CAPN1, CAST, and DGAT1 genetic effects on preweaning performance, carcass quality traits, and residual variance of tenderness in a beef cattle population selected for haplotype and allele equalization

Science.gov (United States)

Genetic marker effects and type of inheritance are estimated with poor precision when minor marker allele frequencies are low. A stable composite population (MARC III) was subjected to marker assisted selection for multiple years to equalize specific marker frequencies to 1) estimate effect size an...

Genetic testing in the workplace: the employer's coin toss.

Science.gov (United States)

French, Samantha

2002-09-05

A toss of the coin by the modern-day employer reveals two options regarding genetic testing in the workplace. The employer may choose to take advantage of increasingly precise, available, and affordable genetic testing in order to ascertain the genetic characteristics--and deficiencies--of its employees. This outcome exposes the employer to a vast array of potential litigation and liability relating to the Americans with Disabilities Act, the Fourth Amendment, Title VII of the Civil Rights Act, and state legislation designed to protect genetic privacy. Alternatively, the employer may neglect to indulge in this trend of genetic testing and may face liability for employer negligence, violations of federal legislation such as OSHA regulations, and increased costs associated with insuring the health of genetically endangered employees. In the rapidly developing universe of genetic intelligence, the employer is faced with a staggering dilemma.

Performance tests of an abrasive cut-off systems for the finishing of high-precision casts

Directory of Open Access Journals (Sweden)

A. Fedoryszyn

2008-10-01

Full Text Available The paper summarizes the performance data of a newly designed and engineered grinding and cut-off system. The machine is used forseparation of models manufactured by the investment casting method. The machine comprises the following units:- base supporting other assemblies and elements: abrasive disc holder and drives; this solution enables an easy replacement and access toholding elements while a belt transmission allows the disc rpm to be varied,- mechanism moving the spindle in the horizontal, hence the abrasive disc position with respect to the batch can be precisely controlled,depending on the cast position and their shape,- holding and positioning-control of the batch to enable the fore and aft movements and rotations,- guide systems ensuring the travel of the batch in the specified direction and adjusting the travel speed to the required cutting rate,- centering, control, exhaust system, housing.Extensive tests were performed, including the tests of operating parameters of abrasive discs depending on the cast material, cyclograms ofthe applied treatment are obtained accordingly.

Performance tests of an abrasive cut-off systems for the finishing of high-precision casts

Directory of Open Access Journals (Sweden)

A. Fedoryszyn

2008-07-01

Full Text Available The paper summarizes the performance data of a newly designed and engineered grinding and cut-off system. The machine is used for separation of models manufactured by the investment casting method. The machine comprises the following units:- base supporting other assemblies and elements: abrasive disc holder and drives; this solution enables an easy replacement and access to holding elements while a belt transmission allows the disc rpm to be varied,- mechanism moving the spindle in the horizontal, hence the abrasive disc position with respect to the batch can be precisely controlled, depending on the cast position and their shape,- holding and positioning-control of the batch to enable the fore and aft movements and rotations,- guide systems ensuring the travel of the batch in the specified direction and adjusting the travel speed to the required cutting rate,- centering, control, exhaust system, housingExtensive tests were performed, including the tests of operating parameters of abrasive discs depending on the cast material, cyclograms of the applied treatment are obtained accordingly.

High-precision thermal and electrical characterization of thermoelectric modules

Science.gov (United States)

Kolodner, Paul

2014-05-01

This paper describes an apparatus for performing high-precision electrical and thermal characterization of thermoelectric modules (TEMs). The apparatus is calibrated for operation between 20 °C and 80 °C and is normally used for measurements of heat currents in the range 0-10 W. Precision thermometry based on miniature thermistor probes enables an absolute temperature accuracy of better than 0.010 °C. The use of vacuum isolation, thermal guarding, and radiation shielding, augmented by a careful accounting of stray heat leaks and uncertainties, allows the heat current through the TEM under test to be determined with a precision of a few mW. The fractional precision of all measured parameters is approximately 0.1%.

Genetic algorithm for building envelope calibration

International Nuclear Information System (INIS)

Ramos Ruiz, Germán; Fernández Bandera, Carlos; Gómez-Acebo Temes, Tomás; Sánchez-Ostiz Gutierrez, Ana

2016-01-01

Highlights: • Calibration methodology using Multi-Objective Genetic Algorithm (NSGA-II). • Uncertainty analysis formulas implemented directly in EnergyPlus. • The methodology captures the heat dynamic of the building with a high level of accuracy. • Reduction in the number of parameters involved due to sensitivity analysis. • Cost-effective methodology using temperature sensors only. - Abstract: Buildings today represent 40% of world primary energy consumption and 24% of greenhouse gas emissions. In our society there is growing interest in knowing precisely when and how energy consumption occurs. This means that consumption measurement and verification plans are well-advanced. International agencies such as Efficiency Valuation Organization (EVO) and International Performance Measurement and Verification Protocol (IPMVP) have developed methodologies to quantify savings. This paper presents a methodology to accurately perform automated envelope calibration under option D (calibrated simulation) of IPMVP – vol. 1. This is frequently ignored because of its complexity, despite being more flexible and accurate in assessing the energy performance of a building. A detailed baseline energy model is used, and by means of a metaheuristic technique achieves a highly reliable and accurate Building Energy Simulation (BES) model suitable for detailed analysis of saving strategies. In order to find this BES model a Genetic Algorithm (NSGA-II) is used, together with a highly efficient engine to stimulate the objective, thus permitting rapid achievement of the goal. The result is a BES model that broadly captures the heat dynamic behaviour of the building. The model amply fulfils the parameters demanded by ASHRAE and EVO under option D.

Pharmacometabolomics informs viromics towards precision medicine

Directory of Open Access Journals (Sweden)

Aggeliki Balasopoulou

2016-10-01

Full Text Available Nowadays, we are experiencing the big data era with the emerging challenge of single data interpretation. Although the advent of high-throughput technologies as well as chemo- and bio- informatics tools presents pan-omics data as the way forward to precision medicine, personalized health care and tailored-made therapeutics can be only envisaged when interindividual variability in response to/ toxicity of xenobiotics can be interpreted and thus, predicted. We know that such variability is the net outcome of genetics (host and microbiota and environmental factors (diet, lifestyle, polypharmacy, microbiota and for this, tremendous efforts have been made to clarify key-molecules from correlation to causality to clinical significance. Herein, we focus on the host-microbiome interplay and its direct and indirect impact on efficacy and toxicity of xenobiotics and we inevitably wonder about the role of viruses, as the least acknowledged ones. We present the emerging discipline of pharmacometabolomics-informed viromics, in which pre-dose metabotypes can assist modeling and prediction of interindividual response to/ toxicity of xenobiotics. Such features, either alone or in combination with host genetics, can power biomarker discovery so long as the features are variable among patients, stable enough to be of predictive value, and better than pre-existing tools for predicting therapeutic efficacy/ toxicity.

Modeling and Positioning of a PZT Precision Drive System

Directory of Open Access Journals (Sweden)

Che Liu

2017-11-01

Full Text Available The fact that piezoelectric ceramic transducer (PZT precision drive systems in 3D printing are faced with nonlinear problems with respect to positioning, such as hysteresis and creep, has had an extremely negative impact on the precision of laser focusing systems. To eliminate the impact of PZT nonlinearity during precision drive movement, mathematical modeling and theoretical analyses of each module comprising the system were carried out in this study, a micro-displacement measurement circuit based on Position Sensitive Detector (PSD is constructed, followed by the establishment of system closed-loop control and creep control models. An XL-80 laser interferometer (Renishaw, Wotton-under-Edge, UK was used to measure the performance of the precision drive system, showing that system modeling and control algorithms were correct, with the requirements for precision positioning of the drive system satisfied.

Modeling and Positioning of a PZT Precision Drive System.

Science.gov (United States)

Liu, Che; Guo, Yanling

2017-11-08

The fact that piezoelectric ceramic transducer (PZT) precision drive systems in 3D printing are faced with nonlinear problems with respect to positioning, such as hysteresis and creep, has had an extremely negative impact on the precision of laser focusing systems. To eliminate the impact of PZT nonlinearity during precision drive movement, mathematical modeling and theoretical analyses of each module comprising the system were carried out in this study, a micro-displacement measurement circuit based on Position Sensitive Detector (PSD) is constructed, followed by the establishment of system closed-loop control and creep control models. An XL-80 laser interferometer (Renishaw, Wotton-under-Edge, UK) was used to measure the performance of the precision drive system, showing that system modeling and control algorithms were correct, with the requirements for precision positioning of the drive system satisfied.

Clinical evaluation of the FreeStyle Precision Pro system.

Science.gov (United States)

Brazg, Ronald; Hughes, Kristen; Martin, Pamela; Coard, Julie; Toffaletti, John; McDonnell, Elizabeth; Taylor, Elizabeth; Farrell, Lausanne; Patel, Mona; Ward, Jeanne; Chen, Ting; Alva, Shridhara; Ng, Ronald

2013-06-05

A new version of international standard (ISO 15197) and CLSI Guideline (POCT12) with more stringent accuracy criteria are near publication. We evaluated the glucose test performance of the FreeStyle Precision Pro system, a new blood glucose monitoring system (BGMS) designed to enhance accuracy for point-of-care testing (POCT). Precision, interference and system accuracy with 503 blood samples from capillary, venous and arterial sources were evaluated in a multicenter study. Study results were analyzed and presented in accordance with the specifications and recommendations of the final draft ISO 15197 and the new POCT12. The FreeStyle Precision Pro system demonstrated acceptable precision (CV FreeStyle Precision Pro system met the tighter accuracy requirements, providing a means for enhancing accuracy for point-of-care blood glucose monitoring. Copyright © 2013 Elsevier B.V. All rights reserved.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Circadian rhythms and sleep are two separate but intimately related processes. Circadian rhythms are generated through the precisely controlled, cyclic expression of a number of genes designated clock genes. Genetic variability in these genes has been associated with a number of phenotypic differences in circadian as ...

Genetics Home Reference: biotin-thiamine-responsive basal ganglia disease

Science.gov (United States)

... BTBGD thiamine metabolism dysfunction syndrome 2 thiamine-responsive encephalopathy thiamine transporter-2 deficiency THMD2 Related Information How ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies.

Directory of Open Access Journals (Sweden)

Anjana Srivatsan

2008-08-01

Full Text Available Whole-genome sequencing is a powerful technique for obtaining the reference sequence information of multiple organisms. Its use can be dramatically expanded to rapidly identify genomic variations, which can be linked with phenotypes to obtain biological insights. We explored these potential applications using the emerging next-generation sequencing platform Solexa Genome Analyzer, and the well-characterized model bacterium Bacillus subtilis. Combining sequencing with experimental verification, we first improved the accuracy of the published sequence of the B. subtilis reference strain 168, then obtained sequences of multiple related laboratory strains and different isolates of each strain. This provides a framework for comparing the divergence between different laboratory strains and between their individual isolates. We also demonstrated the power of Solexa sequencing by using its results to predict a defect in the citrate signal transduction pathway of a common laboratory strain, which we verified experimentally. Finally, we examined the molecular nature of spontaneously generated mutations that suppress the growth defect caused by deletion of the stringent response mediator relA. Using whole-genome sequencing, we rapidly mapped these suppressor mutations to two small homologs of relA. Interestingly, stable suppressor strains had mutations in both genes, with each mutation alone partially relieving the relA growth defect. This supports an intriguing three-locus interaction module that is not easily identifiable through traditional suppressor mapping. We conclude that whole-genome sequencing can drastically accelerate the identification of suppressor mutations and complex genetic interactions, and it can be applied as a standard tool to investigate the genetic traits of model organisms.

Layered compression for high-precision depth data.

Science.gov (United States)

Miao, Dan; Fu, Jingjing; Lu, Yan; Li, Shipeng; Chen, Chang Wen

2015-12-01

With the development of depth data acquisition technologies, access to high-precision depth with more than 8-b depths has become much easier and determining how to efficiently represent and compress high-precision depth is essential for practical depth storage and transmission systems. In this paper, we propose a layered high-precision depth compression framework based on an 8-b image/video encoder to achieve efficient compression with low complexity. Within this framework, considering the characteristics of the high-precision depth, a depth map is partitioned into two layers: 1) the most significant bits (MSBs) layer and 2) the least significant bits (LSBs) layer. The MSBs layer provides rough depth value distribution, while the LSBs layer records the details of the depth value variation. For the MSBs layer, an error-controllable pixel domain encoding scheme is proposed to exploit the data correlation of the general depth information with sharp edges and to guarantee the data format of LSBs layer is 8 b after taking the quantization error from MSBs layer. For the LSBs layer, standard 8-b image/video codec is leveraged to perform the compression. The experimental results demonstrate that the proposed coding scheme can achieve real-time depth compression with satisfactory reconstruction quality. Moreover, the compressed depth data generated from this scheme can achieve better performance in view synthesis and gesture recognition applications compared with the conventional coding schemes because of the error control algorithm.

Golden Jubilee photos: Precision is their motto

CERN Multimedia

2004-01-01

At the beginning of the 1980s, CERN embarked on the enormous Large Electron-Positron Collider construction project. The excavation of the 27-kilometre LEP tunnel was a huge technical challenge. The tunnel-boring machines excavated the tunnel in 3.3 km octants and had to be operated with extraordinary precision to ensure that they reached their destination - the bottom of the next vertical shaft - precisely on target. The tunnel was excavated before high-performance instruments were developed for the construction of the Channel Tunnel. As no firms were willing to perform the surveying work, CERN's own surveyors, with experience from the SPS behind them, took up the challenge. At the surface, the surveyors established the world's most accurate geodetic network, performing measurements to an accuracy of 10-7, or 1mm per 10 km, using the Terrameter (see photo). The excavation of the tunnel was completed in 1988 and the finished tunnel's trajectory was found to diverge from the theoretical value specified by the...

Automation of Precise Time Reference Stations (PTRS)

Science.gov (United States)

Wheeler, P. J.

1985-04-01

The U.S. Naval Observatory is presently engaged in a program of automating precise time stations (PTS) and precise time reference stations (PTBS) by using a versatile mini-computer controlled data acquisition system (DAS). The data acquisition system is configured to monitor locally available PTTI signals such as LORAN-C, OMEGA, and/or the Global Positioning System. In addition, the DAS performs local standard intercomparison. Computer telephone communications provide automatic data transfer to the Naval Observatory. Subsequently, after analysis of the data, results and information can be sent back to the precise time reference station to provide automatic control of remote station timing. The DAS configuration is designed around state of the art standard industrial high reliability modules. The system integration and software are standardized but allow considerable flexibility to satisfy special local requirements such as stability measurements, performance evaluation and printing of messages and certificates. The DAS operates completely independently and may be queried or controlled at any time with a computer or terminal device (control is protected for use by authorized personnel only). Such DAS equipped PTS are operational in Hawaii, California, Texas and Florida.

Towards an Open Software Platform for Field Robots in Precision Agriculture

Directory of Open Access Journals (Sweden)

Kjeld Jensen

2014-06-01

Full Text Available Robotics in precision agriculture has the potential to improve competitiveness and increase sustainability compared to current crop production methods and has become an increasingly active area of research. Tractor guidance systems for supervised navigation and implement control have reached the market, and prototypes of field robots performing precision agriculture tasks without human intervention also exist. But research in advanced cognitive perception and behaviour that is required to enable a more efficient, reliable and safe autonomy becomes increasingly demanding due to the growing software complexity. A lack of collaboration between research groups contributes to the problem. Scientific publications describe methods and results from the work, but little field robot software is released and documented for others to use. We hypothesize that a common open software platform tailored to field robots in precision agriculture will significantly decrease development time and resources required to perform experiments due to efficient reuse of existing work across projects and robot platforms. In this work we present the FroboMind software platform and evaluate the performance when applied to precision agriculture tasks.

Precision titration mini-calorimeter

International Nuclear Information System (INIS)

Ensor, D.; Kullberg, L.; Choppin, G.

1977-01-01

The design and test of a small volume calorimeter of high precision and simple design is described. The calorimeter operates with solution sample volumes in the range of 3 to 5 ml. The results of experiments on the entropy changes for two standard reactions: (1) reaction of tris(hydroxymethyl)aminomethane with hydrochloric acid and (2) reaction between mercury(II) and bromide ions are reported to confirm the accuracy and overall performance of the calorimeter

Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning

OpenAIRE

Tsui, Nancy B. Y.; Cheng, Gregory; Chung, Teresa; Lam, Christopher W. K.; Yee, Anita; Chung, Peter K. C.; Kwan, Tsz-Ki; Ko, Elaine; He, Daihai; Wong, Wing-Tak; Lau, Johnson Y. N.; Lau, Lok Ting; Fok, Manson

2018-01-01

The genetic bases of many common diseases have been identified through genome-wide association studies in the past decade. However, the application of this approach on public healthcare planning has not been well established. Using Macau with population of around 650,000 as a basis, we conducted a pilot study to evaluate the feasibility of population genomic research and its potential on public health decisions. By performing genome-wide SNP genotyping of over a thousand Macau individuals, we...

Evaluation of the Terminal Area Precision Scheduling and Spacing System for Performance-Based Navigation Arrivals

Science.gov (United States)

Jung, Jaewoo; Swenson, Harry; Thipphavong, Jane; Martin, Lynne Hazel; Chen, Liang; Nguyen, Jimmy

2013-01-01

The growth of global demand for air transportation has put increasing strain on the nation's air traffic management system. To relieve this strain, the International Civil Aviation Organization has urged all nations to adopt Performance-Based Navigation (PBN), which can help to reduce air traffic congestion, decrease aviation fuel consumption, and protect the environment. NASA has developed a Terminal Area Precision Scheduling and Spacing (TAPSS) system that can support increased use of PBN during periods of high traffic, while supporting fuel-efficient, continuous descent approaches. In the original development of this system, arrival aircraft are assigned fuel-efficient Area Navigation (RNAV) Standard Terminal Arrival Routes before their initial descent from cruise, with routing defined to a specific runway. The system also determines precise schedules for these aircraft that facilitate continuous descent through the assigned routes. To meet these schedules, controllers are given a set of advisory tools to precisely control aircraft. The TAPSS system has been evaluated in a series of human-in-the-loop (HITL) air traffic simulations during 2010 and 2011. Results indicated increased airport arrival throughput up to 10 over current operations, and maintained fuel-efficient aircraft decent profiles from the initial descent to landing with reduced controller workload. This paper focuses on results from a joint NASA and FAA HITL simulation conducted in 2012. Due to the FAA rollout of the advance terminal area PBN procedures at mid-sized airports first, the TAPSS system was modified to manage arrival aircraft as they entered Terminal Radar Approach Control (TRACON). Dallas-Love Field airport (DAL) was selected by the FAA as a representative mid-sized airport within a constrained TRACON airspace due to the close proximity of a major airport, in this case Dallas-Ft Worth International Airport, one of the busiest in the world. To address this constraint, RNAV routes and

Performance impact of mutation operators of a subpopulation-based genetic algorithm for multi-robot task allocation problems.

Science.gov (United States)

Liu, Chun; Kroll, Andreas

2016-01-01

Multi-robot task allocation determines the task sequence and distribution for a group of robots in multi-robot systems, which is one of constrained combinatorial optimization problems and more complex in case of cooperative tasks because they introduce additional spatial and temporal constraints. To solve multi-robot task allocation problems with cooperative tasks efficiently, a subpopulation-based genetic algorithm, a crossover-free genetic algorithm employing mutation operators and elitism selection in each subpopulation, is developed in this paper. Moreover, the impact of mutation operators (swap, insertion, inversion, displacement, and their various combinations) is analyzed when solving several industrial plant inspection problems. The experimental results show that: (1) the proposed genetic algorithm can obtain better solutions than the tested binary tournament genetic algorithm with partially mapped crossover; (2) inversion mutation performs better than other tested mutation operators when solving problems without cooperative tasks, and the swap-inversion combination performs better than other tested mutation operators/combinations when solving problems with cooperative tasks. As it is difficult to produce all desired effects with a single mutation operator, using multiple mutation operators (including both inversion and swap) is suggested when solving similar combinatorial optimization problems.

Comparison of manual and automated AmpliSeq™ workflows in the typing of a Somali population with the Precision ID Identity Panel.

Science.gov (United States)

van der Heijden, Suzanne; de Oliveira, Susanne Juel; Kampmann, Marie-Louise; Børsting, Claus; Morling, Niels

2017-11-01

The Precision ID Identity Panel was used to type 109 Somali individuals in order to obtain allele frequencies for the Somali population. These frequencies were used to establish a Somali HID-SNP database, which will be used for the biostatistic calculations in family and immigration cases. Genotypes obtained with the Precision ID Identity Panel were found to be almost in complete concordance with genotypes obtained with the SNPforID PCR-SBE-CE assay. In seven SNP loci, silent alleles were identified, of which most were previously described in the literature. The project also set out to compare different AmpliSeq™ workflows to investigate the possibility of using automated library building in forensic genetic case work. In order to do so, the SNP typing of the Somalis was performed using three different workflows: 1) manual library building and sequencing on the Ion PGM™, 2) automated library building using the Biomek ® 3000 and sequencing on the Ion PGM™, and 3) automated library building using the Ion Chef™ and sequencing on the Ion S5™. AmpliSeq™ workflows were compared based on coverage, locus balance, noise, and heterozygote balance. Overall, the Ion Chef™/Ion S5™ workflow was found to give the best results and required least hands-on time in the laboratory. However, the Ion Chef™/Ion S5™ workflow was also the most expensive. The number of libraries that may be constructed in one Ion Chef™ library building run was limited to eight, which is too little for high throughput workflows. The Biomek ® 3000/Ion PGM™ workflow was found to perform similarly to the manual/Ion PGM™ workflow. This argues for the use of automated library building in forensic genetic case work. Automated library building decreases the workload of the laboratory staff, decreases the risk of pipetting errors, and simplifies the daily workflow in forensic genetic laboratories. Copyright © 2017 Elsevier B.V. All rights reserved.

Precision medicine in myasthenia graves: begin from the data precision

Science.gov (United States)

Hong, Yu; Xie, Yanchen; Hao, Hong-Jun; Sun, Ren-Cheng

2016-01-01

Myasthenia gravis (MG) is a prototypic autoimmune disease with overt clinical and immunological heterogeneity. The data of MG is far from individually precise now, partially due to the rarity and heterogeneity of this disease. In this review, we provide the basic insights of MG data precision, including onset age, presenting symptoms, generalization, thymus status, pathogenic autoantibodies, muscle involvement, severity and response to treatment based on references and our previous studies. Subgroups and quantitative traits of MG are discussed in the sense of data precision. The role of disease registries and scientific bases of precise analysis are also discussed to ensure better collection and analysis of MG data. PMID:27127759

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement.

Science.gov (United States)

Webborn, Nick; Williams, Alun; McNamee, Mike; Bouchard, Claude; Pitsiladis, Yannis; Ahmetov, Ildus; Ashley, Euan; Byrne, Nuala; Camporesi, Silvia; Collins, Malcolm; Dijkstra, Paul; Eynon, Nir; Fuku, Noriyuki; Garton, Fleur C; Hoppe, Nils; Holm, Søren; Kaye, Jane; Klissouras, Vassilis; Lucia, Alejandro; Maase, Kamiel; Moran, Colin; North, Kathryn N; Pigozzi, Fabio; Wang, Guan

2015-12-01

The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify children's athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Sharpening Precision Medicine by a Thorough Interrogation of Metabolic Individuality

Directory of Open Access Journals (Sweden)

Kirk Beebe

2016-01-01

Full Text Available Precision medicine is an active component of medical practice today, but aspirations are to both broaden its reach to a greater diversity of individuals and improve its “precision” by enhancing the ability to define even more disease states in combination with associated treatments. Given complexity of human phenotypes, much work is required. In this review, we deconstruct this challenge at a high level to define what is needed to move closer toward these aspirations. In the context of the variables that influence the diverse array of phenotypes across human health and disease – genetics, epigenetics, environmental influences, and the microbiome – we detail the factors behind why an individual's biochemical (metabolite composition is increasingly regarded as a key element to precisely defining phenotypes. Although an individual's biochemical (metabolite composition is generally regarded, and frequently shown, to be a surrogate to the phenotypic state, we review how metabolites (and therefore an individual's metabolic profile are also functionally related to the myriad of phenotypic influencers like genetics and the microbiota. We describe how using the technology to comprehensively measure an individual's biochemical profile – metabolomics – is integrative to defining individual phenotypes and how it is currently being deployed in efforts to continue to elaborate on human health and disease in large population studies. Finally, we summarize instances where metabolomics is being used to assess individual health in instances where signatures (i.e. biomarkers have been defined.

Colorectal Liver Metastases: Does the Future of Precision Medicine Lie in Genetic Testing?

Science.gov (United States)

Barbon, Carlotta; Margonis, Georgios Antonios; Andreatos, Nikolaos; Rezaee, Neda; Sasaki, Kazunari; Buettner, Stefan; Damaskos, Christos; Pawlik, Timothy M; He, Jin; Wolfgang, Christopher L; Weiss, Matthew J

2018-04-11

Colorectal liver metastases (CRLM) present an important clinical challenge in both surgical and medical oncology. Despite improvements in management, survival among patients undergoing resection of CRLM is still very variable and there is a paucity of clinical trial data and reliable biomarkers that could guide prognostic forecasts, treatment selection, and follow-up. Fortunately, recent advances in molecular biology and tumor sequencing have identified a number of critical genetic loci and proliferation markers that may hold the key to understanding the biologic behavior of CRLM; specifically, mutations of KRAS, BRAF, TP53, PIK3CA, APC, expression of Ki-67, and the presence of microsatellite instability appear to have a decisive impact on prognosis and response to treatment in patients with CRLM. While the applicability of genetic biomarkers in everyday clinical practice remains conditional on the development of inexpensive bedside sequencing, targeted therapies, and the conduct of appropriate clinical trials, the promise of personalized treatment may be closer to realization than ever before.

Joint Estimation of Multiple Precision Matrices with Common Structures.

Science.gov (United States)

Lee, Wonyul; Liu, Yufeng

Estimation of inverse covariance matrices, known as precision matrices, is important in various areas of statistical analysis. In this article, we consider estimation of multiple precision matrices sharing some common structures. In this setting, estimating each precision matrix separately can be suboptimal as it ignores potential common structures. This article proposes a new approach to parameterize each precision matrix as a sum of common and unique components and estimate multiple precision matrices in a constrained l 1 minimization framework. We establish both estimation and selection consistency of the proposed estimator in the high dimensional setting. The proposed estimator achieves a faster convergence rate for the common structure in certain cases. Our numerical examples demonstrate that our new estimator can perform better than several existing methods in terms of the entropy loss and Frobenius loss. An application to a glioblastoma cancer data set reveals some interesting gene networks across multiple cancer subtypes.

Genetic Process Mining: Alignment-based Process Model Mutation

NARCIS (Netherlands)

Eck, van M.L.; Buijs, J.C.A.M.; Dongen, van B.F.; Fournier, F.; Mendling, J.

2015-01-01

The Evolutionary Tree Miner (ETM) is a genetic process discovery algorithm that enables the user to guide the discovery process based on preferences with respect to four process model quality dimensions: replay fitness, precision, generalization and simplicity. Traditionally, the ETM algorithm uses

Becoming partners, retaining autonomy: ethical considerations on the development of precision medicine.

Science.gov (United States)

Blasimme, Alessandro; Vayena, Effy

2016-11-04

Precision medicine promises to develop diagnoses and treatments that take individual variability into account. According to most specialists, turning this promise into reality will require adapting the established framework of clinical research ethics, and paying more attention to participants' attitudes towards sharing genotypic, phenotypic, lifestyle data and health records, and ultimately to their desire to be engaged as active partners in medical research.Notions such as participation, engagement and partnership have been introduced in bioethics debates concerning genetics and large-scale biobanking to broaden the focus of discussion beyond individual choice and individuals' moral interests. The uptake of those concepts in precision medicine is to be welcomed. However, as data and medical information from research participants in precision medicine cohorts will be collected on an individual basis, translating a participatory approach in this emerging area may prove cumbersome. Therefore, drawing on Joseph Raz's perfectionism, we propose a principle of respect for autonomous agents that, we reckon, can address many of the concerns driving recent scholarship on partnership and public participation, while avoiding some of the limitations these concept have in the context of precision medicine. Our approach offers a normative clarification to how becoming partners in precision is compatible with retaining autonomy.Realigning the value of autonomy with ideals of direct engagement, we show, can provide adequate normative orientation to precision medicine; it can do justice to the idea of moral pluralism by stressing the value of moral self-determination: and, finally, it can reconcile the notion of autonomy with other more communitarian values such as participation and solidarity.

Forecasting Shaharchay River Flow in Lake Urmia Basin using Genetic Programming and M5 Model Tree

Directory of Open Access Journals (Sweden)

S. Samadianfard

2017-01-01

Full Text Available Introduction: Precise prediction of river flows is the key factor for proper planning and management of water resources. Thus, obtaining the reliable methods for predicting river flows has great importance in water resource engineering. In the recent years, applications of intelligent methods such as artificial neural networks, fuzzy systems and genetic programming in water science and engineering have been grown extensively. These mentioned methods are able to model nonlinear process of river flows without any need to geometric properties. A huge number of studies have been reported in the field of using intelligent methods in water resource engineering. For example, Noorani and Salehi (23 presented a model for predicting runoff in Lighvan basin using adaptive neuro-fuzzy network and compared the performance of it with neural network and fuzzy inference methods in east Azerbaijan, Iran. Nabizadeh et al. (21 used fuzzy inference system and adaptive neuro-fuzzy inference system in order to predict river flow in Lighvan river. Khalili et al. (13 proposed a BL-ARCH method for prediction of flows in Shaharchay River in Urmia. Khu et al. (16 used genetic programming for runoff prediction in Orgeval catchment in France. Firat and Gungor (11 evaluated the fuzzy-neural model for predicting Mendes river flow in Turkey. The goal of present study is comparing the performance of genetic programming and M5 model trees for prediction of Shaharchay river flow in the basin of Lake Urmia and obtaining a comprehensive insight of their abilities. Materials and Methods: Shaharchay river as a main source of providing drinking water of Urmia city and agricultural needs of surrounding lands and finally one of the main input sources of Lake Urmia is quite important in the region. For obtaining the predetermined goals of present study, average monthly flows of Shaharchay River in Band hydrometric station has been gathered from 1951 to 2011. Then, two third of mentioned

In-flight performance analysis of MEMS GPS receiver and its application to precise orbit determination of APOD-A satellite

Science.gov (United States)

Gu, Defeng; Liu, Ye; Yi, Bin; Cao, Jianfeng; Li, Xie

2017-12-01

An experimental satellite mission termed atmospheric density detection and precise orbit determination (APOD) was developed by China and launched on 20 September 2015. The micro-electro-mechanical system (MEMS) GPS receiver provides the basis for precise orbit determination (POD) within the range of a few decimetres. The in-flight performance of the MEMS GPS receiver was assessed. The average number of tracked GPS satellites is 10.7. However, only 5.1 GPS satellites are available for dual-frequency navigation because of the loss of many L2 observations at low elevations. The variations in the multipath error for C1 and P2 were estimated, and the maximum multipath error could reach up to 0.8 m. The average code noises are 0.28 m (C1) and 0.69 m (P2). Using the MEMS GPS receiver, the orbit of the APOD nanosatellite (APOD-A) was precisely determined. Two types of orbit solutions are proposed: a dual-frequency solution and a single-frequency solution. The antenna phase center variations (PCVs) and code residual variations (CRVs) were estimated, and the maximum value of the PCVs is 4.0 cm. After correcting the antenna PCVs and CRVs, the final orbit precision for the dual-frequency and single-frequency solutions were 7.71 cm and 12.91 cm, respectively, validated using the satellite laser ranging (SLR) data, which were significantly improved by 3.35 cm and 25.25 cm. The average RMS of the 6-h overlap differences in the dual-frequency solution between two consecutive days in three dimensions (3D) is 4.59 cm. The MEMS GPS receiver is the Chinese indigenous onboard receiver, which was successfully used in the POD of a nanosatellite. This study has important reference value for improving the MEMS GPS receiver and its application in other low Earth orbit (LEO) nanosatellites.

Google Scholar Out-Performs Many Subscription Databases when Keyword Searching. A Review of: Walters, W. H. (2009. Google Scholar search performance: Comparative recall and precision. portal: Libraries and the Academy, 9(1, 5-24.

Directory of Open Access Journals (Sweden)

Giovanna Badia

2010-09-01

Full Text Available Objective – To compare the search performance (i.e., recall and precision of Google Scholar with that of 11 other bibliographic databases when using a keyword search to find references on later-life migration. Design – Comparative database evaluation. Setting – Not stated in the article. It appears from the author’s affiliation that this research took place in an academic institution of higher learning. Subjects – Twelve databases were compared: Google Scholar, Academic Search Elite, AgeLine, ArticleFirst, EconLit, Geobase, Medline, PAIS International, Popline, Social Sciences Abstracts, Social Sciences Citation Index, and SocIndex. Methods – The relevant literature on later-life migration was pre-identified as a set of 155 journal articles published from 1990 to 2000. The author selected these articles from database searches, citation tracking, journal scans, and consultations with social sciences colleagues. Each database was evaluated with regards to its performance in finding references to these 155 papers.Elderly and migration were the keywords used to conduct the searches in each of the 12 databases, since these were the words that were the most frequently used in the titles of the 155 relevant articles. The search was performed in the most basic search interface of each database that allowed limiting results by the needed publication dates (1990-2000. Search results were sorted by relevance when possible (for 9 out of the 12 databases, and by date when the relevance sorting option was not available. Recall and precision statistics were then calculated from the search results. Recall is the number of relevant results obtained in the database for a search topic, divided by all the potential results which can be obtained on that topic (in this case, 155 references. Precision is the number of relevant results obtained in the database for a search topic, divided by the total number of results that were obtained in the database on

Research on optimization of combustion efficiency of thermal power unit based on genetic algorithm

Science.gov (United States)

Zhou, Qiongyang

2018-04-01

In order to improve the economic performance and reduce pollutant emissions of thermal power units, the characteristics of neural network in establishing boiler combustion model are analyzed based on the analysis of the main factors affecting boiler efficiency by using orthogonal method. In addition, on the basis of this model, the genetic algorithm is used to find the best control amount of the furnace combustion in a certain working condition. Through the genetic algorithm based on real number encoding and roulette selection is concluded: the best control quantity at a condition of furnace combustion can be combined with the boiler combustion system model for neural network training. The precision of the neural network model is further improved, and the basic work is laid for the research of the whole boiler combustion optimization system.

From genetics and epigenetics to the future of precision treatment for obesity

OpenAIRE

Sun, Xulong; Li, Pengzhou; Yang, Xiangwu; Li, Weizheng; Qiu, Xianjie; Zhu, Shaihong

2017-01-01

Abstract Obesity has become a major global health problem, epitomized by excess accumulation of body fat resulting from an imbalance between energy intake and expenditure. The treatments for obesity range from modified nutrition and additional physical activity, to drugs or surgery. But the curative effect of each method seems to vary between individuals. With progress in the genetics and epigenetics of obesity, personalization of the clinical management of obesity may be at our doorstep. Thi...

Rapid screening for targeted genetic variants via high-resolution melting curve analysis.

Science.gov (United States)

Chambliss, Allison B; Resnick, Molly; Petrides, Athena K; Clarke, William A; Marzinke, Mark A

2017-03-01

Current methods for the detection of single nucleotide polymorphisms (SNPs) associated with aberrant drug-metabolizing enzyme function are hindered by long turnaround times and specialized techniques and instrumentation. In this study, we describe the development and validation of a high-resolution melting (HRM) curve assay for the rapid screening of variant genotypes for targeted genetic polymorphisms in the cytochrome P450 enzymes CYP2C9, CYP2C19, and CYP3A5. Sequence-specific primers were custom-designed to flank nine SNPs within the genetic regions of aforementioned drug metabolizing enzymes. PCR amplification was performed followed by amplicon denaturation by precise temperature ramping in order to distinguish genotypes by melting temperature (Tm). A standardized software algorithm was used to assign amplicons as 'reference' or 'variant' as compared to duplicate reference sequence DNA controls for each SNP. Intra-assay (n=5) precision of Tms for all SNPs was ≤0.19%, while inter-assay (n=20) precision ranged from 0.04% to 0.21%. When compared to a reference method of Sanger sequencing, the HRM assay produced no false negative results, and overcall frequency ranged from 0% to 26%, depending on the SNP. Furthermore, HRM genotyping displayed accuracy over input DNA concentrations ranging from 10 to 200 ng/μL. The presented assay provides a rapid method for the screening for genetic variants in targeted CYP450 regions with a result of 'reference' or 'variant' available within 2 h from receipt of extracted DNA. The method can serve as a screening approach to rapidly identify individuals with variant sequences who should be further investigated by reflexed confirmatory testing for aberrant cytochrome P450 enzymatic activity. Rapid knowledge of variant status may aid in the avoidance of adverse clinical events by allowing for dosing of normal metabolizer patients immediately while identifying the need to wait for confirmatory testing in those patients who are

Precision machining commercialization

International Nuclear Information System (INIS)

1978-01-01

To accelerate precision machining development so as to realize more of the potential savings within the next few years of known Department of Defense (DOD) part procurement, the Air Force Materials Laboratory (AFML) is sponsoring the Precision Machining Commercialization Project (PMC). PMC is part of the Tri-Service Precision Machine Tool Program of the DOD Manufacturing Technology Five-Year Plan. The technical resources supporting PMC are provided under sponsorship of the Department of Energy (DOE). The goal of PMC is to minimize precision machining development time and cost risk for interested vendors. PMC will do this by making available the high precision machining technology as developed in two DOE contractor facilities, the Lawrence Livermore Laboratory of the University of California and the Union Carbide Corporation, Nuclear Division, Y-12 Plant, at Oak Ridge, Tennessee

A 100-Year Review: Methods and impact of genetic selection in dairy cattle-From daughter-dam comparisons to deep learning algorithms.

Science.gov (United States)

Weigel, K A; VanRaden, P M; Norman, H D; Grosu, H

2017-12-01

In the early 1900s, breed society herdbooks had been established and milk-recording programs were in their infancy. Farmers wanted to improve the productivity of their cattle, but the foundations of population genetics, quantitative genetics, and animal breeding had not been laid. Early animal breeders struggled to identify genetically superior families using performance records that were influenced by local environmental conditions and herd-specific management practices. Daughter-dam comparisons were used for more than 30 yr and, although genetic progress was minimal, the attention given to performance recording, genetic theory, and statistical methods paid off in future years. Contemporary (herdmate) comparison methods allowed more accurate accounting for environmental factors and genetic progress began to accelerate when these methods were coupled with artificial insemination and progeny testing. Advances in computing facilitated the implementation of mixed linear models that used pedigree and performance data optimally and enabled accurate selection decisions. Sequencing of the bovine genome led to a revolution in dairy cattle breeding, and the pace of scientific discovery and genetic progress accelerated rapidly. Pedigree-based models have given way to whole-genome prediction, and Bayesian regression models and machine learning algorithms have joined mixed linear models in the toolbox of modern animal breeders. Future developments will likely include elucidation of the mechanisms of genetic inheritance and epigenetic modification in key biological pathways, and genomic data will be used with data from on-farm sensors to facilitate precision management on modern dairy farms. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank.

Science.gov (United States)

Cadzow, Murray; Merriman, Tony R; Dalbeth, Nicola

2017-08-09

Many different combinations of available data have been used to identify gout cases in large genetic studies. The aim of this study was to determine the performance of case definitions of gout using the limited items available in multipurpose cohorts for population-based genetic studies. This research was conducted using the UK Biobank Resource. Data, including genome-wide genotypes, were available for 105,421 European participants aged 40-69 years without kidney disease. Gout definitions and combinations of these definitions were identified from previous epidemiological studies. These definitions were tested for association with 30 urate-associated single-nucleotide polymorphisms (SNPs) by logistic regression, adjusted for age, sex, waist circumference, and ratio of waist circumference to height. Heritability estimates under an additive model were generated using GCTA version 1.26.0 and PLINK version 1.90b3.32 by partitioning the genome. There were 2066 (1.96%) cases defined by self-report of gout, 1652 (1.57%) defined by urate-lowering therapy (ULT) use, 382 (0.36%) defined by hospital diagnosis, 1861 (1.76%) defined by hospital diagnosis or gout-specific medications and 2295 (2.18%) defined by self-report of gout or ULT use. Association with gout at experiment-wide significance (P genetic epidemiological studies of gout.

AMCP Partnership Forum: Managing Care in the Wave of Precision Medicine.

Science.gov (United States)

2018-05-23

Precision medicine, the customization of health care to an individual's genetic profile while accounting for biomarkers and lifestyle, has increasingly been adopted by health care stakeholders to guide the development of treatment options, improve treatment decision making, provide more patient-centered care, and better inform coverage and reimbursement decisions. Despite these benefits, key challenges prevent its broader use and adoption. On December 7-8, 2017, the Academy of Managed Care Pharmacy convened a group of stakeholders to discuss these challenges and provide recommendations to facilitate broader adoption and use of precision medicine across health care settings. These stakeholders represented the pharmaceutical industry, clinicians, patient advocacy, private payers, device manufacturers, health analytics, information technology, academia, and government agencies. Throughout the 2-day forum, participants discussed evidence requirements for precision medicine, including consistent ways to measure the utility and validity of precision medicine tests and therapies, limitations of traditional clinical trial designs, and limitations of value assessment framework methods. They also highlighted the challenges with evidence collection and data silos in precision medicine. Interoperability within and across health systems is hindering clinical advancements. Current medical coding systems also cannot account for the heterogeneity of many diseases, preventing health systems from having a complete understanding of their patient population to inform resource allocation. Challenges faced by payers, such as evidence limitations, to inform coverage and reimbursement decisions in precision medicine, as well as legal and regulatory barriers that inhibit more widespread data sharing, were also identified. While a broad range of perspectives was shared throughout the forum, participants reached consensus across 2 overarching areas. First, there is a greater need for common

Driving Toward Precision Medicine for Acute Leukemias: Are We There Yet?

Science.gov (United States)

Chung, Clement; Ma, Hilary

2017-09-01

Despite recent progress in the understanding of the molecular basis of acute leukemias, treatment options for these diseases have not changed significantly over the last few decades. We present a nonexhaustive summary of the current cytogenetic and molecular changes associated with acute leukemias in disease prognostication and potential targeted therapies. An emerging paradigm is that many genetic or molecular alterations target similar signal transduction, transcriptional, and epigenetic pathways. Some of these targets may be used as predictive biomarkers for the development of novel targeted therapies that depart significantly from conventional chemotherapy, the current mainstay for the treatment of acute leukemias. Established leukemia-specific predictive biomarkers for precision medicine include those genetic lesions such as BCR-ABL1 for Philadelphia-positive acute lymphoblastic leukemia and PML-RARα for acute promyelocytic leukemia. Evidence indicates that targeted therapy for FLT-ITD gene mutations with small-molecule tyrosine kinase inhibitors can extend its use from relapsed disease to up-front induction therapy. Core-binding factor acute myeloid leukemia in adults predicts benefit with high-dose cytarabine in the absence of KIT mutation. Although risk-adapted therapy based on genetic abnormalities in acute leukemias has allowed the beginning of personalized treatment and selective use of hematopoietic stem cell transplantation, the prognostic and/or predictive value of many novel mutations of the acute leukemic genome is yet to be elucidated. Many challenges lie ahead in targeted therapies due to overlapping of chromosomal and molecular lesions as well as other limiting factors. Future work should focus on the understanding of pathogenetic changes that lead to leukemogenesis, which may guide the rational design of new targeted therapies and make the drive toward precision medicine for acute leukemias one step closer. © 2017 Pharmacotherapy Publications

Employability of genetic counselors with a PhD in genetic counseling.

Science.gov (United States)

Wallace, Jody P; Myers, Melanie F; Huether, Carl A; Bedard, Angela C; Warren, Nancy Steinberg

2008-06-01

The development of a PhD in genetic counseling has been discussed for more than 20 years, yet the perspectives of employers have not been assessed. The goal of this qualitative study was to gain an understanding of the employability of genetic counselors with a PhD in genetic counseling by conducting interviews with United States employers of genetic counselors. Study participants were categorized according to one of the following practice areas: academic, clinical, government, industry, laboratory, or research. All participants were responsible for hiring genetic counselors in their institutions. Of the 30 employers interviewed, 23 envisioned opportunities for individuals with a PhD degree in genetic counseling, particularly in academic and research settings. Performing research and having the ability to be a principal investigator on a grant was the primary role envisioned for these individuals by 22/30 participants. Employers expect individuals with a PhD in genetic counseling to perform different roles than MS genetic counselors with a master's degree. This study suggests there is an employment niche for individuals who have a PhD in genetic counseling that complements, and does not compete with, master's prepared genetic counselors.

Why precision?

Energy Technology Data Exchange (ETDEWEB)

Bluemlein, Johannes

2012-05-15

Precision measurements together with exact theoretical calculations have led to steady progress in fundamental physics. A brief survey is given on recent developments and current achievements in the field of perturbative precision calculations in the Standard Model of the Elementary Particles and their application in current high energy collider data analyses.

Why precision?

International Nuclear Information System (INIS)

Bluemlein, Johannes

2012-05-01

Precision measurements together with exact theoretical calculations have led to steady progress in fundamental physics. A brief survey is given on recent developments and current achievements in the field of perturbative precision calculations in the Standard Model of the Elementary Particles and their application in current high energy collider data analyses.

Comparison between Genetic Algorithms and Particle Swarm Optimization Methods on Standard Test Functions and Machine Design

DEFF Research Database (Denmark)

Nica, Florin Valentin Traian; Ritchie, Ewen; Leban, Krisztina Monika

2013-01-01

, genetic algorithm and particle swarm are shortly presented in this paper. These two algorithms are tested to determine their performance on five different benchmark test functions. The algorithms are tested based on three requirements: precision of the result, number of iterations and calculation time....... Both algorithms are also tested on an analytical design process of a Transverse Flux Permanent Magnet Generator to observe their performances in an electrical machine design application.......Nowadays the requirements imposed by the industry and economy ask for better quality and performance while the price must be maintained in the same range. To achieve this goal optimization must be introduced in the design process. Two of the best known optimization algorithms for machine design...

Data evaluation and CNGS beam localization with the precision tracker of the OPERA detector

International Nuclear Information System (INIS)

Bick, D.

2007-04-01

In this diploma thesis, the data evaluation for the OPERA precision tracker is presented. Furthermore investigations of a precise CNGS beam localization with the precision tracker are performed. After an overview of past and present developments in neutrino physics, the OPERA detector is presented in this thesis. Emphasis is given to the precision tracker which has been partly commissioned in the end of the last year. A first analysis of the functionality with cosmic muons has been performed, as well as the inclusion of data in the OPERA software framework. Within this thesis some useful tools have been developed which are also presented. Finally, divergence effects from the nominal beam line of the CNGS neutrino beam and possible detection with the precision tracker are studied. (orig.)

Data evaluation and CNGS beam localization with the precision tracker of the OPERA detector

Energy Technology Data Exchange (ETDEWEB)

Bick, D.

2007-04-15

In this diploma thesis, the data evaluation for the OPERA precision tracker is presented. Furthermore investigations of a precise CNGS beam localization with the precision tracker are performed. After an overview of past and present developments in neutrino physics, the OPERA detector is presented in this thesis. Emphasis is given to the precision tracker which has been partly commissioned in the end of the last year. A first analysis of the functionality with cosmic muons has been performed, as well as the inclusion of data in the OPERA software framework. Within this thesis some useful tools have been developed which are also presented. Finally, divergence effects from the nominal beam line of the CNGS neutrino beam and possible detection with the precision tracker are studied. (orig.)

Precision mechatronics based on high-precision measuring and positioning systems and machines

Science.gov (United States)

Jäger, Gerd; Manske, Eberhard; Hausotte, Tino; Mastylo, Rostyslav; Dorozhovets, Natalja; Hofmann, Norbert

2007-06-01

Precision mechatronics is defined in the paper as the science and engineering of a new generation of high precision systems and machines. Nanomeasuring and nanopositioning engineering represents important fields of precision mechatronics. The nanometrology is described as the today's limit of the precision engineering. The problem, how to design nanopositioning machines with uncertainties as small as possible will be discussed. The integration of several optical and tactile nanoprobes makes the 3D-nanopositioning machine suitable for various tasks, such as long range scanning probe microscopy, mask and wafer inspection, nanotribology, nanoindentation, free form surface measurement as well as measurement of microoptics, precision molds, microgears, ring gauges and small holes.

Online Identification of Photovoltaic Source Parameters by Using a Genetic Algorithm

Directory of Open Access Journals (Sweden)

Giovanni Petrone

2017-12-01

Full Text Available In this paper, an efficient method for the online identification of the photovoltaic single-diode model parameters is proposed. The combination of a genetic algorithm with explicit equations allows obtaining precise results without the direct measurement of short circuit current and open circuit voltage that is typically used in offline identification methods. Since the proposed method requires only voltage and current values close to the maximum power point, it can be easily integrated into any photovoltaic system, and it operates online without compromising the power production. The proposed approach has been implemented and tested on an embedded system, and it exhibits a good performance for monitoring/diagnosis applications.

Spike timing precision of neuronal circuits.

Science.gov (United States)

Kilinc, Deniz; Demir, Alper

2018-04-17

Spike timing is believed to be a key factor in sensory information encoding and computations performed by the neurons and neuronal circuits. However, the considerable noise and variability, arising from the inherently stochastic mechanisms that exist in the neurons and the synapses, degrade spike timing precision. Computational modeling can help decipher the mechanisms utilized by the neuronal circuits in order to regulate timing precision. In this paper, we utilize semi-analytical techniques, which were adapted from previously developed methods for electronic circuits, for the stochastic characterization of neuronal circuits. These techniques, which are orders of magnitude faster than traditional Monte Carlo type simulations, can be used to directly compute the spike timing jitter variance, power spectral densities, correlation functions, and other stochastic characterizations of neuronal circuit operation. We consider three distinct neuronal circuit motifs: Feedback inhibition, synaptic integration, and synaptic coupling. First, we show that both the spike timing precision and the energy efficiency of a spiking neuron are improved with feedback inhibition. We unveil the underlying mechanism through which this is achieved. Then, we demonstrate that a neuron can improve on the timing precision of its synaptic inputs, coming from multiple sources, via synaptic integration: The phase of the output spikes of the integrator neuron has the same variance as that of the sample average of the phases of its inputs. Finally, we reveal that weak synaptic coupling among neurons, in a fully connected network, enables them to behave like a single neuron with a larger membrane area, resulting in an improvement in the timing precision through cooperation.

Genetic evaluation of reproduction performance of Jersey × Red Sindhi crossbred cows

Directory of Open Access Journals (Sweden)

S. Vinothraj

2016-09-01

Full Text Available Aim: The present investigation was undertaken to study the reproduction performance and effect of non-genetic factors on reproduction performance of Jersey crossbred cows. Materials and Methods: Data on 355 Jersey crossbred cattle maintained at the Post-graduate Research Institute in Animal Sciences, Kattupakkam, Tamil Nadu, distributed over 30 years (1985 to 2014. The effect of various non-genetic factors including the period of birth, season of birth, period of calving, season of calving and parity were analyzed through least-squares analyses using univariate general linear model. The different (covariance components for calculation of genetic parameters were estimated using restricted maximum likelihood method by fitting an animal model. Results: The overall least-squares means (±standard error of age at first service, age at first calving, weight at first calving, service period, calving interval, dry period, and number of services per conception were 848.06±9.72 days, 1204±12.20 days, 289.81±1.71 kg, 210.01±6.41 days, 489.12±6.45 days, 137.96±5.58 days, 2.50±0.07, respectively. Period of calving had either significant (p<0.05 or highly significant (p<0.01 effect on all reproduction traits studied except service period, calving interval, and dry period. Number of services per conception was affected by season of calving. Parity had significant influence (p<0.05 or highly significant (p<0.01 influence on all the traits studied except service period and dry period. Heritability estimates of age at first service, age at first calving, weight at first calving, service period, calving interval, dry period, and number of services per conception were 0.299, 0.220, 0.017, 0.142, 0.222, 0.177, and 0.042, respectively. The estimates of repeatability for service period, calving interval, dry period, and number of services per conception were 0.219, 0.234, 0.420, and 0.001, respectively. Conclusions: The reproduction performances of Jersey �

Stereotactic Body Radiation Therapy Delivery in a Genetically Engineered Mouse Model of Lung Cancer

Energy Technology Data Exchange (ETDEWEB)

Du, Shisuo; Lockamy, Virginia [Department of Radiation Oncology, Thomas Jefferson University, Philadelphia, Pennsylvania (United States); Zhou, Lin [Department of Thoracic Oncology, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan (China); Xue, Christine; LeBlanc, Justin [Department of Radiation Oncology, Thomas Jefferson University, Philadelphia, Pennsylvania (United States); Glenn, Shonna [Xstrahl, Inc, Suwanee, Georgia (United States); Shukla, Gaurav; Yu, Yan; Dicker, Adam P.; Leeper, Dennis B. [Department of Radiation Oncology, Thomas Jefferson University, Philadelphia, Pennsylvania (United States); Lu, You [Department of Thoracic Oncology, Cancer Center and State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, Sichuan (China); Lu, Bo, E-mail: bo.lu@jefferson.edu [Department of Radiation Oncology, Thomas Jefferson University, Philadelphia, Pennsylvania (United States)

2016-11-01

Purpose: To implement clinical stereotactic body radiation therapy (SBRT) using a small animal radiation research platform (SARRP) in a genetically engineered mouse model of lung cancer. Methods and Materials: A murine model of multinodular Kras-driven spontaneous lung tumors was used for this study. High-resolution cone beam computed tomography (CBCT) imaging was used to identify and target peripheral tumor nodules, whereas off-target lung nodules in the contralateral lung were used as a nonirradiated control. CBCT imaging helps localize tumors, facilitate high-precision irradiation, and monitor tumor growth. SBRT planning, prescription dose, and dose limits to normal tissue followed the guidelines set by RTOG protocols. Pathologic changes in the irradiated tumors were investigated using immunohistochemistry. Results: The image guided radiation delivery using the SARRP system effectively localized and treated lung cancer with precision in a genetically engineered mouse model of lung cancer. Immunohistochemical data confirmed the precise delivery of SBRT to the targeted lung nodules. The 60 Gy delivered in 3 weekly fractions markedly reduced the proliferation index, Ki-67, and increased apoptosis per staining for cleaved caspase-3 in irradiated lung nodules. Conclusions: It is feasible to use the SARRP platform to perform dosimetric planning and delivery of SBRT in mice with lung cancer. This allows for preclinical studies that provide a rationale for clinical trials involving SBRT, especially when combined with immunotherapeutics.

Metabolomics enables precision medicine: "A White Paper, Community Perspective".

Science.gov (United States)

Beger, Richard D; Dunn, Warwick; Schmidt, Michael A; Gross, Steven S; Kirwan, Jennifer A; Cascante, Marta; Brennan, Lorraine; Wishart, David S; Oresic, Matej; Hankemeier, Thomas; Broadhurst, David I; Lane, Andrew N; Suhre, Karsten; Kastenmüller, Gabi; Sumner, Susan J; Thiele, Ines; Fiehn, Oliver; Kaddurah-Daouk, Rima

stratification of patients based on metabolic pathways impacted; (4) reveal biomarkers for drug response phenotypes, providing an effective means to predict variation in a subject's response to treatment (pharmacometabolomics); (5) define a metabotype for each specific genotype, offering a functional read-out for genetic variants: (6) provide a means to monitor response and recurrence of diseases, such as cancers: (7) describe the molecular landscape in human performance applications and extreme environments. Importantly, sophisticated metabolomic analytical platforms and informatics tools have recently been developed that make it possible to measure thousands of metabolites in blood, other body fluids, and tissues. Such tools also enable more robust analysis of response to treatment. New insights have been gained about mechanisms of diseases, including neuropsychiatric disorders, cardiovascular disease, cancers, diabetes and a range of pathologies. A series of ground breaking studies supported by National Institute of Health (NIH) through the Pharmacometabolomics Research Network and its partnership with the Pharmacogenomics Research Network illustrate how a patient's metabotype at baseline, prior to treatment, during treatment, and post-treatment, can inform about treatment outcomes and variations in responsiveness to drugs (e.g., statins, antidepressants, antihypertensives and antiplatelet therapies). These studies along with several others also exemplify how metabolomics data can complement and inform genetic data in defining ethnic, sex, and gender basis for variation in responses to treatment, which illustrates how pharmacometabolomics and pharmacogenomics are complementary and powerful tools for precision medicine. Our metabolomics community believes that inclusion of metabolomics data in precision medicine initiatives is timely and will provide an extremely valuable layer of data that compliments and informs other data obtained by these important initiatives. Our

Performance of the CMS precision electromagnetic calorimeter at LHC Run II and prospects for High-Luminosity LHC

CERN Document Server

Zhang, Zhicai

2017-01-01

Many physics analyses using the Compact Muon Solenoid (CMS) detector at the LHC require accurate, high-resolution electron and photon energy measurements. Following the excellent performance achieved during LHC Run I at center-of-mass energies of 7 and 8 TeV, the CMS electromagnetic calorimeter (ECAL) is operating at the LHC with proton-proton collisions at 13 TeV center-of-mass energy. The instantaneous luminosity delivered by the LHC during Run II has achieved unprecedented levels. The average number of concurrent proton-proton collisions per bunch-crossing (pileup) has reached up to 40 interactions in 2016 and may increase further in 2017. These high pileup levels necessitate a retuning of the ECAL readout and trigger thresholds and reconstruction algorithms. In addition, the energy response of the detector must be precisely calibrated and monitored. We present new reconstruction algorithms and calibration strategies that were implemented to maintain the excellent performance of the CMS ECAL throughout Run...

Genetic parameters and genetic and phenotypic trends of performance traits of equines from the Brazilian Army

OpenAIRE

Dornelles, Mariana de Almeida; Araújo, Ronyere Olegário de; Everling, Dionéia Magda; Weber, Tomás; Lopes, Jader Silva; Pacheco, Paulo Santana; Breda, Fernanda Cristina; Rorato, Paulo Roberto Nogara

2012-01-01

The objective of this research was to compare the magnitude of genetic parameters (coefficients of heritability and genetic correlation) as estimated by the Restricted Maximum Likelihood (REML) method and Bayesian Inference, and to estimate the genetic and phenotypic trends to the traits height at the withers (HW24) and weight at 24 months of age (W24). The average heritability estimated by Bayesian Inference to HW24 was 0.47, and it was lower than that obtained by REML bi-trait analysis (0.5...

A Perfect Match Genomic Landscape Provides a Unified Framework for the Precise Detection of Variation in Natural and Synthetic Haploid Genomes.

Science.gov (United States)

Palacios-Flores, Kim; García-Sotelo, Jair; Castillo, Alejandra; Uribe, Carina; Aguilar, Luis; Morales, Lucía; Gómez-Romero, Laura; Reyes, José; Garciarubio, Alejandro; Boege, Margareta; Dávila, Guillermo

2018-04-01

We present a conceptually simple, sensitive, precise, and essentially nonstatistical solution for the analysis of genome variation in haploid organisms. The generation of a Perfect Match Genomic Landscape (PMGL), which computes intergenome identity with single nucleotide resolution, reveals signatures of variation wherever a query genome differs from a reference genome. Such signatures encode the precise location of different types of variants, including single nucleotide variants, deletions, insertions, and amplifications, effectively introducing the concept of a general signature of variation. The precise nature of variants is then resolved through the generation of targeted alignments between specific sets of sequence reads and known regions of the reference genome. Thus, the perfect match logic decouples the identification of the location of variants from the characterization of their nature, providing a unified framework for the detection of genome variation. We assessed the performance of the PMGL strategy via simulation experiments. We determined the variation profiles of natural genomes and of a synthetic chromosome, both in the context of haploid yeast strains. Our approach uncovered variants that have previously escaped detection. Moreover, our strategy is ideally suited for further refining high-quality reference genomes. The source codes for the automated PMGL pipeline have been deposited in a public repository. Copyright © 2018 by the Genetics Society of America.

Is the Cell Nucleus a Necessary Component in Precise Temporal Patterning?

Directory of Open Access Journals (Sweden)

Jaroslav Albert

Full Text Available One of the functions of the cell nucleus is to help regulate gene expression by controlling molecular traffic across the nuclear envelope. Here we investigate, via stochastic simulation, what effects, if any, does segregation of a system into the nuclear and cytoplasmic compartments have on the stochastic properties of a motif with a negative feedback. One of the effects of the nuclear barrier is to delay the nuclear protein concentration, allowing it to behave in a switch-like manner. We found that this delay, defined as the time for the nuclear protein concentration to reach a certain threshold, has an extremely narrow distribution. To show this, we considered two models. In the first one, the proteins could diffuse freely from cytoplasm to nucleus (simple model; and in the second one, the proteins required assistance from a special class of proteins called importins. For each model, we generated fifty parameter sets, chosen such that the temporal profiles they effectuated were very similar, and whose average threshold time was approximately 150 minutes. The standard deviation of the threshold times computed over one hundred realizations were found to be between 1.8 and 7.16 minutes across both models. To see whether a genetic motif in a prokaryotic cell can achieve this degree of precision, we also simulated five variations on the coherent feed-forward motif (CFFM, three of which contained a negative feedback. We found that the performance of these motifs was nowhere near as impressive as the one found in the eukaryotic cell; the best standard deviation was 6.6 minutes. We argue that the significance of these results, the fact and necessity of spatio-temporal precision in the developmental stages of eukaryotes, and the absence of such a precision in prokaryotes, all suggest that the nucleus has evolved, in part, under the selective pressure to achieve highly predictable phenotypes.

Precision half-life measurement of 11C: The most precise mirror transition F t value

Science.gov (United States)

Valverde, A. A.; Brodeur, M.; Ahn, T.; Allen, J.; Bardayan, D. W.; Becchetti, F. D.; Blankstein, D.; Brown, G.; Burdette, D. P.; Frentz, B.; Gilardy, G.; Hall, M. R.; King, S.; Kolata, J. J.; Long, J.; Macon, K. T.; Nelson, A.; O'Malley, P. D.; Skulski, M.; Strauss, S. Y.; Vande Kolk, B.

2018-03-01

Background: The precise determination of the F t value in T =1 /2 mixed mirror decays is an important avenue for testing the standard model of the electroweak interaction through the determination of Vu d in nuclear β decays. 11C is an interesting case, as its low mass and small QE C value make it particularly sensitive to violations of the conserved vector current hypothesis. The present dominant source of uncertainty in the 11CF t value is the half-life. Purpose: A high-precision measurement of the 11C half-life was performed, and a new world average half-life was calculated. Method: 11C was created by transfer reactions and separated using the TwinSol facility at the Nuclear Science Laboratory at the University of Notre Dame. It was then implanted into a tantalum foil, and β counting was used to determine the half-life. Results: The new half-life, t1 /2=1220.27 (26 ) s, is consistent with the previous values but significantly more precise. A new world average was calculated, t1/2 world=1220.41 (32 ) s, and a new estimate for the Gamow-Teller to Fermi mixing ratio ρ is presented along with standard model correlation parameters. Conclusions: The new 11C world average half-life allows the calculation of a F tmirror value that is now the most precise value for all superallowed mixed mirror transitions. This gives a strong impetus for an experimental determination of ρ , to allow for the determination of Vu d from this decay.

LASL lens design procedure: simple, fast, precise, versatile

International Nuclear Information System (INIS)

Brixner, B.

1978-11-01

The Los Alamos Scientific Laboratory general-purpose lens design procedure optimizes specific lens prescriptions to obtain the smallest possible image spots and therefore near-spherical wave fronts of light converging on all images in the field of view. Optical image errors are analyzed in much the same way that they are measured on the optical bench. This lens design method is made possible by using the full capabilities of large electronic computers. First, the performance of the whole lens is sampled with many precisely traced skew rays. Next, lens performance is analyzed with spot diagrams generated by the many rays. Third, lens performance is optimized with a least squares system aimed at reducing all image errors to zero. This statistical approach to lens design uses skew rays and precisely measured ray deviations from ideal image points to achieve greater accuracy than was possible with the classical procedure, which is based on approximate expressions derived from simplified ray traces developed for pencil-and-paper calculations

Precision tests of CPT invariance with single trapped antiprotons

Energy Technology Data Exchange (ETDEWEB)

Ulmer, Stefan [RIKEN, Ulmer Initiative Research Unit, Wako, Saitama (Japan); Collaboration: BASE-Collaboration

2015-07-01

The reason for the striking imbalance of matter and antimatter in our Universe has yet to be understood. This is the motivation and inspiration to conduct high precision experiments comparing the fundamental properties of matter and antimatter equivalents at lowest energies and with greatest precision. According to theory, the most sensitive tests of CPT invariance are measurements of antihydrogen ground-state hyperfine splitting as well as comparisons of proton and antiproton magnetic moments. Within the BASE collaboration we target the latter. By using a double Penning trap we performed very recently the first direct high precision measurement of the proton magnetic moment. The achieved fractional precision of 3.3 ppb improves the currently accepted literature value by a factor of 2.5. Application of the method to a single trapped antiproton will improve precision of the particles magnetic moment by more than a factor of 1000, thus providing one of the most stringent tests of CPT invariance. In my talk I report on the status and future perspectives of our efforts.

Preimplantation genetic screening.

Science.gov (United States)

Harper, Joyce C

2018-03-01

Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

Practical precision measurement

International Nuclear Information System (INIS)

Kwak, Ho Chan; Lee, Hui Jun

1999-01-01

This book introduces basic knowledge of precision measurement, measurement of length, precision measurement of minor diameter, measurement of angles, measurement of surface roughness, three dimensional measurement, measurement of locations and shapes, measurement of screw, gear testing, cutting tools testing, rolling bearing testing, and measurement of digitalisation. It covers height gauge, how to test surface roughness, measurement of plan and straightness, external and internal thread testing, gear tooth measurement, milling cutter, tab, rotation precision measurement, and optical transducer.

Influence of Mobility Models in Precision Spray Aided by Wireless Sensor Networks

International Nuclear Information System (INIS)

Gonçalves, L B L; Neves, L A; Zafalon, G F D; Costa, F G; Ueyama, J; Montez, C; Pinto, A S R

2015-01-01

Precision Spray is a technique to increase performance of Precision Agriculture. This spray technique may be aided by a Wireless Sensor Network, however, for such approach, the communication between the agricultural input applicator vehicle and network is critical due to its proper functioning. Thus, this work analyzes how the number of nodes in a wireless sensor network, its type of distribution and different areas of scenario affects the performance of communication. We performed simulations to observe system's behavior changing to find the most fitted non-controlled mobility model to the system

A Semantic Web-based System for Mining Genetic Mutations in Cancer Clinical Trials.

Science.gov (United States)

Priya, Sambhawa; Jiang, Guoqian; Dasari, Surendra; Zimmermann, Michael T; Wang, Chen; Heflin, Jeff; Chute, Christopher G

2015-01-01

Textual eligibility criteria in clinical trial protocols contain important information about potential clinically relevant pharmacogenomic events. Manual curation for harvesting this evidence is intractable as it is error prone and time consuming. In this paper, we develop and evaluate a Semantic Web-based system that captures and manages mutation evidences and related contextual information from cancer clinical trials. The system has 2 main components: an NLP-based annotator and a Semantic Web ontology-based annotation manager. We evaluated the performance of the annotator in terms of precision and recall. We demonstrated the usefulness of the system by conducting case studies in retrieving relevant clinical trials using a collection of mutations identified from TCGA Leukemia patients and Atlas of Genetics and Cytogenetics in Oncology and Haematology. In conclusion, our system using Semantic Web technologies provides an effective framework for extraction, annotation, standardization and management of genetic mutations in cancer clinical trials.

A mobile robot for precision work in hostile environments

International Nuclear Information System (INIS)

Malick, F.S.; Saluja, J.

1987-01-01

The programmable industrial robot on wheels which was built for use in the decontamination of the West Valley nuclear fuel reprocessing facility was further developed to be useful for remote maintenance. The vehicle is supported at the work site by screwjack outriggers to provide the stable base needed for precision work. The robot using a position sensor feels its position at the work site and sets up in its computer a rectilinear coordinate axis frame which is precisely aligned with the work site. It is then able to make precise movements with respect to the work site regardless of inaccuracies in the positioning of the vehicle. When using the robot as a manipulator, the operator can quickly call for a sequence of programmed moves to perform a repetitive part of a work task at a higher speed, with greater precision, with fewer errors and with less operator fatigue

COMPARISON AND INTERACTION GENOTIPE-ENVIRONMENT OF THE PRODUCTIVE PERFORMANCE IN THREE GENETIC LINES OF TILAPIA Oreochromis sp.

Directory of Open Access Journals (Sweden)

Jorge Luis Pérez-Fuentes

2016-05-01

Full Text Available Tilapia is the second most widely cultivated species in the international scope, due to their fast growing and breeding capacity in captivity. Its biggest problem is the unpredictability of the productive performance of varieties in different environments and management types. For this reason, the productive performance of three lines: Oreochromis niloticus (N, red Oreochromis mossambicus (M and Rocky Mountain (R, cultured in five sites in two environments (Presses: Miguel de la Madrid and Miguel Aleman in the State of Oaxaca, Mexico was compared. Cages with dimensions between 18 and 48 m3 with stocking density of 7 to 28 fish m-3 were used. Feeding varied depending on the producers (1 to 3 portions a day/cage (300 to 1200 g of feed. Total length (TL, weight (P, survival (SUP and fillet yield (RF were evaluated in each genetic line. Results from physicochemical parameters of water, environments of culture and production efficiency of the strains indicated no significant differences, except for weight gain (g between sites of culture. However, it was considered that the differences were mainly due to handling during the culture, rather than the genetic line. Genetic lines showed similar performance (Tilapia R: LT 16.5 ± 3.1 cm, P 99.0± 46.6 g, 28 % RF, SUP 91.6 %. Tilapia N: LT 16.7 ± 3.7 cm, P 98.2 ± 40.9, RF 23 % SUP 86 %. Tilapia M: LT 15.4 ± 4.6 cm, P 100.1 ± 112.5 g, 30 % RF, SUP 91.6 %. Under the conditions evaluated, type of management could influence the efficiency of the culture more than the genetic line.

Precision grinding of microarray lens molding die with 4-axes controlled microwheel

Directory of Open Access Journals (Sweden)

Yuji Yamamoto, Hirofumi Suzuki, Takashi Onishi1, Tadashi Okino and Toshimichi Moriwaki

2007-01-01

Full Text Available This paper deals with precision grinding of microarray lens (fly eye molding die by using a resinoid bonded diamond wheel. An ultra-precision grinding system of microarray lens molding die and new truing method of resinoid bonded diamond wheel were developed. In this system, a grinding wheel was four-dimensionally controlled with 1 nm resolution by linear scale feedback system and scanned on the workpiece surface. New truing method by using a vanadium alloy tool was developed and its performance was obtained with high preciseness and low wheel wear. Finally, the microarray lens molding dies of fine grain tungsten carbide (WC was tested with the resinoid bonded diamond wheel to evaluate grinding performance.

Quantitative determination of casein genetic variants in goat milk: Application in Girgentana dairy goat breed.

Science.gov (United States)

Montalbano, Maria; Segreto, Roberta; Di Gerlando, Rosalia; Mastrangelo, Salvatore; Sardina, Maria Teresa

2016-02-01

The study was conducted to develop a high-performance liquid chromatographic (HPLC) method to quantify casein genetic variants (αs2-, β-, and κ-casein) in milk of homozygous individuals of Girgentana goat breed. For calibration experiments, pure genetic variants were extracted from individual milk samples of animals with known genotypes. The described HPLC approach was precise, accurate and highly suitable for quantification of goat casein genetic variants of homozygous individuals. The amount of each casein per allele was: αs2-casein A = 2.9 ± 0.8 g/L and F = 1.8 ± 0.4 g/L; β-casein C = 3.0 ± 0.8 g/L and C1 = 2.0 ± 0.7 g/L and κ-casein A = 1.6 ± 0.3 g/L and B = 1.1 ± 0.2 g/L. A good correlation was found between the quantities of αs2-casein genetic variants A and F, and β-casein C and C1 with other previously described method. The main important result was obtained for κ-casein because, till now, no data were available on quantification of single genetic variants for this protein. Copyright © 2015 Elsevier Ltd. All rights reserved.

Fine-Scale Genetic Structure in Finland

Directory of Open Access Journals (Sweden)

Sini Kerminen

2017-10-01

Full Text Available Coupling dense genotype data with new computational methods offers unprecedented opportunities for individual-level ancestry estimation once geographically precisely defined reference data sets become available. We study such a reference data set for Finland containing 2376 such individuals from the FINRISK Study survey of 1997 both of whose parents were born close to each other. This sampling strategy focuses on the population structure present in Finland before the 1950s. By using the recent haplotype-based methods ChromoPainter (CP and FineSTRUCTURE (FS we reveal a highly geographically clustered genetic structure in Finland and report its connections to the settlement history as well as to the current dialectal regions of the Finnish language. The main genetic division within Finland shows striking concordance with the 1323 borderline of the treaty of Nöteborg. In general, we detect genetic substructure throughout the country, which reflects stronger regional genetic differences in Finland compared to, for example, the UK, which in a similar analysis was dominated by a single unstructured population. We expect that similar population genetic reference data sets will become available for many more populations in the near future with important applications, for example, in forensic genetics and in genetic association studies. With this in mind, we report those extensions of the CP + FS approach that we found most useful in our analyses of the Finnish data.

Fault diagnosis in spur gears based on genetic algorithm and random forest

Science.gov (United States)

Cerrada, Mariela; Zurita, Grover; Cabrera, Diego; Sánchez, René-Vinicio; Artés, Mariano; Li, Chuan

2016-03-01

There are growing demands for condition-based monitoring of gearboxes, and therefore new methods to improve the reliability, effectiveness, accuracy of the gear fault detection ought to be evaluated. Feature selection is still an important aspect in machine learning-based diagnosis in order to reach good performance of the diagnostic models. On the other hand, random forest classifiers are suitable models in industrial environments where large data-samples are not usually available for training such diagnostic models. The main aim of this research is to build up a robust system for the multi-class fault diagnosis in spur gears, by selecting the best set of condition parameters on time, frequency and time-frequency domains, which are extracted from vibration signals. The diagnostic system is performed by using genetic algorithms and a classifier based on random forest, in a supervised environment. The original set of condition parameters is reduced around 66% regarding the initial size by using genetic algorithms, and still get an acceptable classification precision over 97%. The approach is tested on real vibration signals by considering several fault classes, one of them being an incipient fault, under different running conditions of load and velocity.

A genetic analysis of post-weaning feedlot performance and profitability in Bonsmara cattle.

Science.gov (United States)

van der Westhuizen, R R; van der Westhuizen, J; Schoeman, S J

2009-02-25

The aim of this study was to identify factors influencing profitability in a feedlot environment and to estimate genetic parameters for and between a feedlot profit function and productive traits measured in growth tests. The heritability estimate of 0.36 for feedlot profitability shows that this trait is genetically inherited and that it can be selected for. The genetic correlations between feedlot profitability and production and efficiency varied from negligible to high. The genetic correlation estimate of -0.92 between feed conversion ratio and feedlot profitability is largely due to the part-whole relationship between these two traits. Consequently, a multiple regression equation was developed to estimate a feed intake value for all performance-tested Bonsmara bulls, which were group fed and whose feed intakes were unknown. These predicted feed intake values enabled the calculation of a post-weaning growth or feedlot profitability value for all tested bulls, even where individual feed intakes were unknown. Subsequently, a feedlot profitability value for each bull was calculated in a favorable economic environment, an average economic environment and in an unfavorable economic environment. The high Pearson and Spearman correlations between the estimate breeding values based on the average economic environment and the other two environments suggested that the average economic environment could be used to calculate estimate breeding values for feedlot profitability. It is therefore not necessary to change the carcass, weaned calf or feed price on a regular basis to allow for possible re-rankings based on estimate breeding values.

Comparison Performance of Genetic Algorithm and Ant Colony Optimization in Course Scheduling Optimizing

Directory of Open Access Journals (Sweden)

Imam Ahmad Ashari

2016-11-01

Full Text Available Scheduling problems at the university is a complex type of scheduling problems. The scheduling process should be carried out at every turn of the semester's. The core of the problem of scheduling courses at the university is that the number of components that need to be considered in making the schedule, some of the components was made up of students, lecturers, time and a room with due regard to the limits and certain conditions so that no collision in the schedule such as mashed room, mashed lecturer and others. To resolve a scheduling problem most appropriate technique used is the technique of optimization. Optimization techniques can give the best results desired. Metaheuristic algorithm is an algorithm that has a lot of ways to solve the problems to the very limit the optimal solution. In this paper, we use a genetic algorithm and ant colony optimization algorithm is an algorithm metaheuristic to solve the problem of course scheduling. The two algorithm will be tested and compared to get performance is the best. The algorithm was tested using data schedule courses of the university in Semarang. From the experimental results we conclude that the genetic algorithm has better performance than the ant colony optimization  algorithm in solving the case of course scheduling.

The PPP Precision Analysis Based on BDS Regional Navigation System

Directory of Open Access Journals (Sweden)

ZHU Yongxing

2015-04-01

Full Text Available BeiDou navigation satellite system(BDS has opened service in most of the Asia-Pacific region, it offers the possibility to break the technological monopoly of GPS in the field of high-precision applications, so its performance of precise point positioning (PPP has been a great concern. Firstly, the constellation of BeiDou regional navigation system and BDS/GPS tracking network is introduced. Secondly, the precise ephemeris and clock offset accuracy of BeiDou satellite based on domestic tracking network is analyzed. Finally, the static and kinematic PPP accuracy is studied, and compared with the GPS. The actual measured numerical example shows that the static and kinematic PPP based on BDS can achieve centimeter-level and decimeter-level respectively, reaching the current level of GPS precise point positioning.

Genetic parameters for type classification of Nelore cattle on central performance tests at pasture in Brazil.

Science.gov (United States)

Lima, Paulo Ricardo Martins; Paiva, Samuel Rezende; Cobuci, Jaime Araujo; Braccini Neto, José; Machado, Carlos Henrique Cavallari; McManus, Concepta

2013-10-01

The objective of this study was to characterize Nelore cattle on central performance tests in pasture, ranked by the visual classification method EPMURAS (structure, precocity, muscle, navel, breed, posture, and sexual characteristics), and to estimate genetic and phenotypic correlations between these parameters, including visual as well as production traits (initial and final weight on test, weight gain, and weight corrected for 550 days). The information used in the study was obtained on 21,032 Nelore bulls which were participants in the central performance test at pasture of the Brazilian Association for Zebu Breeders (ABCZ). Heritabilities obtained were from 0.19 to 0.50. Phenotypic correlations were positive from 0.70 to 0.97 between the weight traits, from 0.65 to 0.74 between visual characteristics, and from 0.29 to 0.47 between visual characteristics and weight traits. The genetic correlations were positive ranging from 0.80 to 0.98 between the characteristics of structure, precocity and musculature, from 0.13 to 0.64 between the growth characteristics, and from 0.41 to 0.97 between visual scores and weight gains. Heritability and genetic correlations indicate that the use of visual scores, along with the selection for growth characteristics, can bring positive results in selection of beef cattle for rearing on pasture.

Numeral eddy current sensor modelling based on genetic neural network

International Nuclear Information System (INIS)

Yu Along

2008-01-01

This paper presents a method used to the numeral eddy current sensor modelling based on the genetic neural network to settle its nonlinear problem. The principle and algorithms of genetic neural network are introduced. In this method, the nonlinear model parameters of the numeral eddy current sensor are optimized by genetic neural network (GNN) according to measurement data. So the method remains both the global searching ability of genetic algorithm and the good local searching ability of neural network. The nonlinear model has the advantages of strong robustness, on-line modelling and high precision. The maximum nonlinearity error can be reduced to 0.037% by using GNN. However, the maximum nonlinearity error is 0.075% using the least square method

Supervised Learning in Spiking Neural Networks for Precise Temporal Encoding.

Science.gov (United States)

Gardner, Brian; Grüning, André

2016-01-01

Precise spike timing as a means to encode information in neural networks is biologically supported, and is advantageous over frequency-based codes by processing input features on a much shorter time-scale. For these reasons, much recent attention has been focused on the development of supervised learning rules for spiking neural networks that utilise a temporal coding scheme. However, despite significant progress in this area, there still lack rules that have a theoretical basis, and yet can be considered biologically relevant. Here we examine the general conditions under which synaptic plasticity most effectively takes place to support the supervised learning of a precise temporal code. As part of our analysis we examine two spike-based learning methods: one of which relies on an instantaneous error signal to modify synaptic weights in a network (INST rule), and the other one relying on a filtered error signal for smoother synaptic weight modifications (FILT rule). We test the accuracy of the solutions provided by each rule with respect to their temporal encoding precision, and then measure the maximum number of input patterns they can learn to memorise using the precise timings of individual spikes as an indication of their storage capacity. Our results demonstrate the high performance of the FILT rule in most cases, underpinned by the rule's error-filtering mechanism, which is predicted to provide smooth convergence towards a desired solution during learning. We also find the FILT rule to be most efficient at performing input pattern memorisations, and most noticeably when patterns are identified using spikes with sub-millisecond temporal precision. In comparison with existing work, we determine the performance of the FILT rule to be consistent with that of the highly efficient E-learning Chronotron rule, but with the distinct advantage that our FILT rule is also implementable as an online method for increased biological realism.

Increasing Endurance by Building Fluency: Precision Teaching Attention Span.

Science.gov (United States)

Binder, Carl; And Others

1990-01-01

Precision teaching techniques can be used to chart students' attention span or endurance. Individual differences in attention span can then be better understood and dealt with effectively. The effects of performance duration on performance level, on error rates, and on learning rates are discussed. Implications for classroom practice are noted.…

Droplet-counting Microtitration System for Precise On-site Analysis.

Science.gov (United States)

Kawakubo, Susumu; Omori, Taichi; Suzuki, Yasutada; Ueta, Ikuo

2018-01-01

A new microtitration system based on the counting of titrant droplets has been developed for precise on-site analysis. The dropping rate was controlled by inserting a capillary tube as a flow resistance in a laboratory-made micropipette. The error of titration was 3% in a simulated titration with 20 droplets. The pre-addition of a titrant was proposed for precise titration within an error of 0.5%. The analytical performances were evaluated for chelate titration, redox titration and acid-base titration.

Cost and performance optimization of natural draft dry cooling towers using genetic algorithm. Paper no. IGEC-1-002

International Nuclear Information System (INIS)

Shokuhmand, H.; Ghaempanah, B.

2005-01-01

In this paper the cost - performance optimization of natural draft dry cooling towers with specific kind of heat exchangers, known as Forgo T60 has been investigated. These cooling towers are used in combined and steam cycle power plants. The optimization has been done using genetic algorithm. The objective function has two parts, which are minimizing the cost and maximizing the performance. In the first part the geometrical and operating parameters are defined and for the next part the performance of the designed tower for different ambient temperatures during a year is calculated considering the characteristic curve of the turbine. The applied genetic algorithm has been tuned up using the data of some working power cycles. The results show it is possible to find an optimum for all design parameters; however it is very dependent on how exact the cost analysis is. (author)

LOW PRESSURE CARBURIZING IN A LARGE-CHAMBER DEVICE FOR HIGH-PERFORMANCE AND PRECISION THERMAL TREATMENT OF PARTS OF MECHANICAL GEAR

Directory of Open Access Journals (Sweden)

Emilia Wołowiec-Korecka

2017-03-01

Full Text Available This paper presents the findings of research of a short-pulse low pressure carburizing technology developed for a new large-chamber furnace for high-performance and precision thermal treatment of parts of mechanical gear. Sections of the article discuss the novel constructions of the device in which parts being carburized flow in a stream, as well as the low-pressure carburizing experiment. The method has been found to yield uniform, even and repeatable carburized layers on typical gear used in automotive industry.

Estimates of genetic parameters and environmental effects for measures of hunting performance in Finnish hounds.

Science.gov (United States)

Liinamo, A E; Karjalainen, L; Ojala, M; Vilva, V

1997-03-01

Data from field trials of Finnish Hounds between 1988 and 1992 in Finland were used to estimate genetic parameters and environmental effects for measures of hunting performance using REML procedures and an animal model. The original data set included 28,791 field trial records from 5,666 dogs. Males and females had equal hunting performance, whereas experience acquired by age improved trial results compared with results for young dogs (P Hounds with respect to their hunting ability should be based on animal model BLUP methods instead of mere performance testing. The evaluation system of field trials should also be revised for more reliability.

Charting the genotype-phenotype map: lessons from the Drosophila melanogaster Genetic Reference Panel.

Science.gov (United States)

Mackay, Trudy F C; Huang, Wen

2018-01-01

Understanding the genetic architecture (causal molecular variants, their effects, and frequencies) of quantitative traits is important for precision agriculture and medicine and predicting adaptive evolution, but is challenging in most species. The Drosophila melanogaster Genetic Reference Panel (DGRP) is a collection of 205 inbred strains with whole genome sequences derived from a single wild population in Raleigh, NC, USA. The large amount of quantitative genetic variation, lack of population structure, and rapid local decay of linkage disequilibrium in the DGRP and outbred populations derived from DGRP lines present a favorable scenario for performing genome-wide association (GWA) mapping analyses to identify candidate causal genes, polymorphisms, and pathways affecting quantitative traits. The many GWA studies utilizing the DGRP have revealed substantial natural genetic variation for all reported traits, little evidence for variants with large effects but enrichment for variants with low P-values, and a tendency for lower frequency variants to have larger effects than more common variants. The variants detected in the GWA analyses rarely overlap those discovered using mutagenesis, and often are the first functional annotations of computationally predicted genes. Variants implicated in GWA analyses typically have sex-specific and genetic background-specific (epistatic) effects, as well as pleiotropic effects on other quantitative traits. Studies in the DGRP reveal substantial genetic control of environmental variation. Taking account of genetic architecture can greatly improve genomic prediction in the DGRP. These features of the genetic architecture of quantitative traits are likely to apply to other species, including humans. WIREs Dev Biol 2018, 7:e289. doi: 10.1002/wdev.289 This article is categorized under: Invertebrate Organogenesis > Flies. © 2017 Wiley Periodicals, Inc.

Ultrabroadband optical chirp linearization for precision metrology applications.

Science.gov (United States)

Roos, Peter A; Reibel, Randy R; Berg, Trenton; Kaylor, Brant; Barber, Zeb W; Babbitt, Wm Randall

2009-12-01

We demonstrate precise linearization of ultrabroadband laser frequency chirps via a fiber-based self-heterodyne technique to enable extremely high-resolution, frequency-modulated cw laser-radar (LADAR) and a wide range of other metrology applications. Our frequency chirps cover bandwidths up to nearly 5 THz with frequency errors as low as 170 kHz, relative to linearity. We show that this performance enables 31-mum transform-limited LADAR range resolution (FWHM) and 86 nm range precisions over a 1.5 m range baseline. Much longer range baselines are possible but are limited by atmospheric turbulence and fiber dispersion.

Fundamental limits of scintillation detector timing precision

International Nuclear Information System (INIS)

Derenzo, Stephen E; Choong, Woon-Seng; Moses, William W

2014-01-01

In this paper we review the primary factors that affect the timing precision of a scintillation detector. Monte Carlo calculations were performed to explore the dependence of the timing precision on the number of photoelectrons, the scintillator decay and rise times, the depth of interaction uncertainty, the time dispersion of the optical photons (modeled as an exponential decay), the photodetector rise time and transit time jitter, the leading-edge trigger level, and electronic noise. The Monte Carlo code was used to estimate the practical limits on the timing precision for an energy deposition of 511 keV in 3 mm × 3 mm × 30 mm Lu 2 SiO 5 :Ce and LaBr 3 :Ce crystals. The calculated timing precisions are consistent with the best experimental literature values. We then calculated the timing precision for 820 cases that sampled scintillator rise times from 0 to 1.0 ns, photon dispersion times from 0 to 0.2 ns, photodetector time jitters from 0 to 0.5 ns fwhm, and A from 10 to 10 000 photoelectrons per ns decay time. Since the timing precision R was found to depend on A −1/2  more than any other factor, we tabulated the parameter B, where R = BA −1/2 . An empirical analytical formula was found that fit the tabulated values of B with an rms deviation of 2.2% of the value of B. The theoretical lower bound of the timing precision was calculated for the example of 0.5 ns rise time, 0.1 ns photon dispersion, and 0.2 ns fwhm photodetector time jitter. The lower bound was at most 15% lower than leading-edge timing discrimination for A from 10 to 10 000 photoelectrons ns −1 . A timing precision of 8 ps fwhm should be possible for an energy deposition of 511 keV using currently available photodetectors if a theoretically possible scintillator were developed that could produce 10 000 photoelectrons ns −1 . (paper)

GENETIC AND PHENOTYPICEY EALUATION OF THE GROWTH PERFORMANCE OF BHAGNARI AND DROUGHTMASTER X BHAGNARI FEMALE CAL YES IN PAKIST AN

Directory of Open Access Journals (Sweden)

A. Waheed. A.U. Hyder and M.S. Khan

2003-07-01

Full Text Available Pedigree and performance records of 296 Bhagnari and Droughtmaster x Bhagnari crossbred cows maintained at the Beef Production Research Centre, Sibi (Baluchistan accumulated, over a period of 30 years from 1969 to 1999, were utilized for the present study. The least squares means for birth weight, weaning weight and pre-weaning average daily gain were 23.49 ± 3.76, 107.46 ± 19.00 and 390.00 ± 97g having coefficients of variation of 12.89, 13.75 and 13.75%, respectively. Year of birth significantly influenced birth weight, weaning weight and pre-weaning average daily gain, while season of birth appeared to be a non-significant source of variation for all of the performance traits studied. Genetic group of the cows had a significant effect on birth weight, while other traits including weaning weight and pre- weaning average daily gain, were non-significantly affected by the genetic group of the cow. Genetic group of the dam had a non-significant influence on body weights at birth and weaning (P>0.05. The heritability estimates of birth weight, weaning weight and pre-weaning average daily gain were found to be 0.09 ± 0.02, 0.09 ± 0.01, and 0.01 ± 0.01, respectively. The estimates of phenotypic and genetic correlation between birth weight and weaning weight were -0.23 and -0.74, respectively. The estimated breeding values ranged from -171.44 to 242.48 kg for birth weight and from -171.44 to 22.48 kg for weaning weight. Estimated breeding values obtained were used to compute the genetic trends for various performance traits. The genetic trends for birth weight was negative and for weaning weight it was slightly positive. All phenotypic trends were negative with the exception of the one for weaning weight, which was slightly positive.

Deficits in Coordinative Bimanual Timing Precision in Children With Specific Language Impairment.

Science.gov (United States)

Vuolo, Janet; Goffman, Lisa; Zelaznik, Howard N

2017-02-01

Our objective was to delineate components of motor performance in specific language impairment (SLI); specifically, whether deficits in timing precision in one effector (unimanual tapping) and in two effectors (bimanual clapping) are observed in young children with SLI. Twenty-seven 4- to 5-year-old children with SLI and 21 age-matched peers with typical language development participated. All children engaged in a unimanual tapping and a bimanual clapping timing task. Standard measures of language and motor performance were also obtained. No group differences in timing variability were observed in the unimanual tapping task. However, compared with typically developing peers, children with SLI were more variable in their timing precision in the bimanual clapping task. Nine of the children with SLI performed greater than 1 SD below the mean on a standardized motor assessment. The children with low motor performance showed the same profile as observed across all children with SLI, with unaffected unimanual and impaired bimanual timing precision. Although unimanual timing is unaffected, children with SLI show a deficit in timing that requires bimanual coordination. We propose that the timing deficits observed in children with SLI are associated with the increased demands inherent in bimanual performance.

Common genetic variants on 6q24 associated with exceptional episodic memory performance in the elderly

DEFF Research Database (Denmark)

Barral, Sandra; Cosentino, Stephanie; Christensen, Kaare

2014-01-01

IMPORTANCE: There are genetic influences on memory ability as we age, but no specific genes have been identified. OBJECTIVE: To use a cognitive endophenotype, exceptional episodic memory (EEM) performance, derived from nondemented offspring from the Long Life Family Study (LLFS) to identify genetic...... individuals. Results of the individual replication cohorts were combined by meta-analysis. MAIN OUTCOME MEASURE: Episodic memory scores computed as the mean of the 2 standardized measures of Logical Memory IA and IIA. RESULTS: Heritability estimates indicated a significant genetic component for EEM (h2 = 0...... peak. Replication in one cohort identified a set of 26 SNPs associated with episodic memory (P ≤ .05). Meta-analysis of the 26 SNPs using the 4 independent replication cohorts found SNPs rs9321334 and rs6902875 to be nominally significantly associated with episodic memory (P = .009 and P = .013...

Toward the use of precision medicine for the treatment of head and neck squamous cell carcinoma.

Science.gov (United States)

Gong, Wang; Xiao, Yandi; Wei, Zihao; Yuan, Yao; Qiu, Min; Sun, Chongkui; Zeng, Xin; Liang, Xinhua; Feng, Mingye; Chen, Qianming

2017-01-10

Precision medicine is a new strategy that aims at preventing and treating human diseases by focusing on individual variations in people's genes, environment and lifestyle. Precision medicine has been used for cancer diagnosis and treatment and shows evident clinical efficacy. Rapid developments in molecular biology, genetics and sequencing technologies, as well as computational technology, has enabled the establishment of "big data", such as the Human Genome Project, which provides a basis for precision medicine. Head and neck squamous cell carcinoma (HNSCC) is an aggressive cancer with a high incidence rate and low survival rate. Current therapies are often aggressive and carry considerable side effects. Much research now indicates that precision medicine can be used for HNSCC and may achieve improved results. From this perspective, we present an overview of the current status, potential strategies, and challenges of precision medicine in HNSCC. We focus on targeted therapy based on cell the surface signaling receptors epidermal growth factor receptor (EGFR), vascular endothelial growth factor (VEGF) and human epidermal growth factor receptor-2 (HER2), and on the PI3K/AKT/mTOR, JAK/STAT3 and RAS/RAF/MEK/ERK cellular signaling pathways. Gene therapy for the treatment of HNSCC is also discussed.

Genetic doping and health damages.

Science.gov (United States)

Fallahi, Aa; Ravasi, Aa; Farhud, Dd

2011-01-01

Use of genetic doping or gene transfer technology will be the newest and the lethal method of doping in future and have some unpleasant consequences for sports, athletes, and outcomes of competitions. The World Anti-Doping Agency (WADA) defines genetic doping as "the non-therapeutic use of genes, genetic elements, and/or cells that have the capacity to enhance athletic performance ". The purpose of this review is to consider genetic doping, health damages and risks of new genes if delivered in athletes. This review, which is carried out by reviewing relevant publications, is primarily based on the journals available in GOOGLE, ELSEVIER, PUBMED in fields of genetic technology, and health using a combination of keywords (e.g., genetic doping, genes, exercise, performance, athletes) until July 2010. There are several genes related to sport performance and if they are used, they will have health risks and sever damages such as cancer, autoimmunization, and heart attack.

Precisely Tailored DNA Nanostructures and their Theranostic Applications.

Science.gov (United States)

Zhu, Bing; Wang, Lihua; Li, Jiang; Fan, Chunhai

2017-12-01

A critical challenge in nanotechnology is the limited precision and controllability of the structural parameters, which brings about concerns in uniformity, reproducibility and performance. Self-assembled DNA nanostructures, as a newly emerged type of nano-biomaterials, possess low-nanometer precision, excellent programmability and addressability. They can precisely arrange various molecules and materials to form spatially ordered complex, resulting in unambiguous physical or chemical properties. Because of these, DNA nanostructures have shown great promise in numerous biomedical theranostic applications. In this account, we briefly review the history and advances on construction of DNA nanoarchitectures and superstructures with accurate structural parameters. We focus on recent progress in exploiting these DNA nanostructures as platforms for quantitative biosensing, intracellular diagnosis, imaging, and smart drug delivery. We also discuss key challenges in practical applications. © 2017 The Chemical Society of Japan & Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

Evaluation of Different Estimation Methods for Accuracy and Precision in Biological Assay Validation.

Science.gov (United States)

Yu, Binbing; Yang, Harry

2017-01-01

Biological assays ( bioassays ) are procedures to estimate the potency of a substance by studying its effects on living organisms, tissues, and cells. Bioassays are essential tools for gaining insight into biologic systems and processes including, for example, the development of new drugs and monitoring environmental pollutants. Two of the most important parameters of bioassay performance are relative accuracy (bias) and precision. Although general strategies and formulas are provided in USP, a comprehensive understanding of the definitions of bias and precision remain elusive. Additionally, whether there is a beneficial use of data transformation in estimating intermediate precision remains unclear. Finally, there are various statistical estimation methods available that often pose a dilemma for the analyst who must choose the most appropriate method. To address these issues, we provide both a rigorous definition of bias and precision as well as three alternative methods for calculating relative standard deviation (RSD). All methods perform similarly when the RSD ≤10%. However, the USP estimates result in larger bias and root-mean-square error (RMSE) compared to the three proposed methods when the actual variation was large. Therefore, the USP method should not be used for routine analysis. For data with moderate skewness and deviation from normality, the estimates based on the original scale perform well. The original scale method is preferred, and the method based on log-transformation may be used for noticeably skewed data. LAY ABSTRACT: Biological assays, or bioassays, are essential in the development and manufacture of biopharmaceutical products for potency testing and quality monitoring. Two important parameters of assay performance are relative accuracy (bias) and precision. The definitions of bias and precision in USP 〈1033〉 are elusive and confusing. Another complicating issue is whether log-transformation should be used for calculating the

The high-producing dairy cow and its reproductive performance

DEFF Research Database (Denmark)

Dobson, H; Smith, Rf; Royal, Md

2007-01-01

There is evidence that the reproductive performance of dairy cows has declined as milk yields have increased over the last 40 years. Identifying the precise cause(s) of this problem may provide focused solutions. Intensive genetic selection for very high yields has reduced fertility, due mainly...... to an increase in postpartum clinical problems, poor expression of oestrus, defective oocytes/embryos and uterine infections. It is a challenge to solve the problem by getting enough food into these cows to meet the high demands of peak milk yields in early lactation, as well as providing the considerable...

Long-term in-vitro precision of direct digital X-ray radiogrammetry

International Nuclear Information System (INIS)

Dhainaut, Alvilde; Hoff, Mari; Kaelvesten, Johan; Lydersen, Stian; Forslind, Kristina; Haugeberg, Glenn

2011-01-01

Digital X-ray radiogrammetry (DXR) calculates peripheral bone mineral density (BMD) from hand radiographs. The short-term precision for direct DXR has been reported to be highly satisfactory. However, long-term precision for this method has not been examined. Thus, the aim of this study was to examine the long-term in-vitro precision for the new direct digital version of DXR. The in-vitro precision for direct DXR was tested with cadaver phantoms on four different X-ray systems at baseline, 3 months, 6 months, and in one machine also at 12 months. At each time point, 31 measurements were performed. The in-vitro longitudinal precision for the four radiographic systems ranged from 0.22 to 0.43% expressed as coefficient of variation (CV%). The smallest detectable difference (SDD) ranged from 0.0034 to 0.0054 g/cm 2 . The in vitro long-term precision for direct DXR was comparable to the previous reported short-term in-vitro precision for all tested X-ray systems. These data show that DXR is a stable method for detecting small changes in bone density during 6-12 months of follow-up. (orig.)

Method of high precision interval measurement in pulse laser ranging system

Science.gov (United States)

Wang, Zhen; Lv, Xin-yuan; Mao, Jin-jin; Liu, Wei; Yang, Dong

2013-09-01

Laser ranging is suitable for laser system, for it has the advantage of high measuring precision, fast measuring speed,no cooperative targets and strong resistance to electromagnetic interference,the measuremen of laser ranging is the key paremeters affecting the performance of the whole system.The precision of the pulsed laser ranging system was decided by the precision of the time interval measurement, the principle structure of laser ranging system was introduced, and a method of high precision time interval measurement in pulse laser ranging system was established in this paper.Based on the analysis of the factors which affected the precision of range measure,the pulse rising edges discriminator was adopted to produce timing mark for the start-stop time discrimination,and the TDC-GP2 high precision interval measurement system based on TMS320F2812 DSP was designed to improve the measurement precision.Experimental results indicate that the time interval measurement method in this paper can obtain higher range accuracy. Compared with the traditional time interval measurement system,the method simplifies the system design and reduce the influence of bad weather conditions,furthermore,it satisfies the requirements of low costs and miniaturization.

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

Indian Academy of Sciences (India)

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

The Search for Symmetries in the Genetic Code:

Science.gov (United States)

Antoneli, Fernando; Forger, Michael; Hornos, José Eduardo M.

We give a full classification of the possible schemes for obtaining the distribution of multiplets observed in the standard genetic code by symmetry breaking in the context of finite groups, based on an extended notion of partial symmetry breaking that incorporates the intuitive idea of "freezing" first proposed by Francis Crick, which is given a precise mathematical meaning.

Identification of a QTL in Mus musculus for alcohol preference, withdrawal, and Ap3m2 expression using integrative functional genomics and precision genetics.

Science.gov (United States)

Bubier, Jason A; Jay, Jeremy J; Baker, Christopher L; Bergeson, Susan E; Ohno, Hiroshi; Metten, Pamela; Crabbe, John C; Chesler, Elissa J

2014-08-01

Extensive genetic and genomic studies of the relationship between alcohol drinking preference and withdrawal severity have been performed using animal models. Data from multiple such publications and public data resources have been incorporated in the GeneWeaver database with >60,000 gene sets including 285 alcohol withdrawal and preference-related gene sets. Among these are evidence for positional candidates regulating these behaviors in overlapping quantitative trait loci (QTL) mapped in distinct mouse populations. Combinatorial integration of functional genomics experimental results revealed a single QTL positional candidate gene in one of the loci common to both preference and withdrawal. Functional validation studies in Ap3m2 knockout mice confirmed these relationships. Genetic validation involves confirming the existence of segregating polymorphisms that could account for the phenotypic effect. By exploiting recent advances in mouse genotyping, sequence, epigenetics, and phylogeny resources, we confirmed that Ap3m2 resides in an appropriately segregating genomic region. We have demonstrated genetic and alcohol-induced regulation of Ap3m2 expression. Although sequence analysis revealed no polymorphisms in the Ap3m2-coding region that could account for all phenotypic differences, there are several upstream SNPs that could. We have identified one of these to be an H3K4me3 site that exhibits strain differences in methylation. Thus, by making cross-species functional genomics readily computable we identified a common QTL candidate for two related bio-behavioral processes via functional evidence and demonstrate sufficiency of the genetic locus as a source of variation underlying two traits. Copyright © 2014 by the Genetics Society of America.

Genetically engineered nanocarriers for drug delivery

Directory of Open Access Journals (Sweden)

Shi P

2014-03-01

Full Text Available Pu Shi, Joshua A Gustafson, J Andrew MacKayDepartment of Pharmacology and Pharmaceutical Sciences, University of Southern California, Los Angeles, CA, USAAbstract: Cytotoxicity, low water solubility, rapid clearance from circulation, and off-target side-effects are common drawbacks of conventional small-molecule drugs. To overcome these shortcomings, many multifunctional nanocarriers have been proposed to enhance drug delivery. In concept, multifunctional nanoparticles might carry multiple agents, control release rate, biodegrade, and utilize target-mediated drug delivery; however, the design of these particles presents many challenges at the stage of pharmaceutical development. An emerging solution to improve control over these particles is to turn to genetic engineering. Genetically engineered nanocarriers are precisely controlled in size and structure and can provide specific control over sites for chemical attachment of drugs. Genetically engineered drug carriers that assemble nanostructures including nanoparticles and nanofibers can be polymeric or non-polymeric. This review summarizes the recent development of applications in drug and gene delivery utilizing nanostructures of polymeric genetically engineered drug carriers such as elastin-like polypeptides, silk-like polypeptides, and silk-elastin-like protein polymers, and non-polymeric genetically engineered drug carriers such as vault proteins and viral proteins.Keywords: polymeric drug carrier, non-polymeric drug carrier, gene delivery, GE drug carriers

Deriving estimates of individual variability in genetic potentials of performance traits for 3 dairy breeds, using a model of lifetime nutrient partitioning

DEFF Research Database (Denmark)

Phuong, H N; Martin, O; de Boer, I J M

2015-01-01

, body reserve usage, and growth for different genotypes of cow. Moreover, it can be used to separate genetic variability in performance between individual cows from environmental noise. The model enables simulation of the effects of a genetic selection strategy on lifetime efficiency of individual cows......, which has a main advantage of including the rearing costs, and thus, can be used to explore the impact of future selection on animal performance and efficiency....

The influence of genetic selection and feed system on the reproductive performance of spring-calving dairy cows within future pasture-based production systems.

Science.gov (United States)

Coleman, J; Pierce, K M; Berry, D P; Brennan, A; Horan, B

2009-10-01

Three genetic groups of Holstein-Friesian dairy cows were established from within the Moorepark (Teagasc, Ireland) dairy research herd: LowNA, indicative of the Irish national average-genetic-merit North American Holstein-Friesian; HighNA, high-genetic-merit North American Holstein-Friesian; HighNZ, high-genetic-merit New Zealand Holstein-Friesian. Genetic merit in this study was based on the Irish total merit index, the Economic Breeding Index. Animals from within each genetic group were randomly allocated to 1 of 2 possible post-European Union-milk-quota pasture-based feeding systems (FS): 1) The Moorepark (MP) pasture system (2.64 cows/ha and 500 kg of concentrate supplement per cow per lactation) and 2) a high output per hectare (HC) pasture system (2.85 cows/ha and 1,200 kg of concentrate supplement per cow per lactation). A total of 126, 128, and 140 spring-calving dairy cows were used during the years 2006, 2007, and 2008, respectively. Each group had an individual farmlet of 17 paddocks, and all groups were managed similarly throughout the study. The effects of genetic group, FS, and the interaction between genetic group and FS on reproductive performance, body weight, body condition score, and blood metabolite concentrations were studied using mixed models with factorial arrangements of genetic groups and FS. Odds ratios were used in the analysis of binary fertility traits, and survival analysis was used in the analysis of survival after first calving. When treatment means were compared, the HighNA and HighNZ genotypes (with greater genetic merit for fertility performance) had greater first-service pregnancy rates and had a greater proportion of cows pregnant after 42 d of the breeding season than the LowNA group. Both HighNA and HighNZ genotypes were submitted for artificial insemination earlier in the breeding season and had greater survival than the LowNA genotype. There was no significant FS or genotype by FS interactions for any of the reproductive

Advances in genetic detection of kidney disease

International Nuclear Information System (INIS)

Dosekun, Akinsan K.; Foringer, John R.; Kone, Bruce C.

2003-01-01

The Human Genome Project has provided a vast amount of molecular genetic information for the analysis of normal and diseased genes. This new information provides new opportunities for precise diagnosis, assessment of predisposition and risk factors and novel therapeutic strategies. At the same time, this constantly expanding knowledge base represents on e of the most difficult challenges in molecular medicine. For monogenic disease nearly 2000 human disease genes have thus for been identified. Most of these conditions are characterized by large mutational variation and even greater phenotypic variation. In nephrology, several genetic diseases have been elucidated that provide new insight into the structure, function and developmental biology of the glomerulus, tubules and urogenital tracts, as well as renal cell tumors. Great improvements in the diagnostic resolution of genetic diseases have been achieved, such that single base pair mutations can be readily detected. Because of accurate diagnosis and risk assessment, genetic testing may be valuable in improving disease management and preventive care when genotype-specific therapies are available. Moreover, such testing may identify de novo mutations and potentially aid in understanding the disease process. This review summarizes recent advances in the renal genetic database and methods for genetic testing of renal diseases. (author)

Genetics and ecology of colonization and mass rearing of Hawaiian fruit flies (Diptera: Tephritidae) for use in sterile insect control programs

International Nuclear Information System (INIS)

Saul, S.H.; McCombs, S.D.

1995-01-01

It is critical to maintain the genetic, physiological and behavioral competence of colonized populations of insect species, such as fruit flies, which are reared for release in sterile insect and other genetic control programs. Selective pressures associated with the mass rearing process affect this competence, but the underlying mechanisms of genetic change arc largely unknown. However, competence is often an operational goal achieved by manipulating environmental factors without possessing precise genetic knowledge of alleles and their marginal effects on the desired traits. One goal of this paper is to show that the precise genetic and statistical analysis of components that determine competence in a broad sense or fitness in the narrower ecological sense, is extremely difficult. We can gel contradictory results from the different methods for estimating genetic variation in tephritid populations. We observe low levels of allozyme variation, but high levels of recessive mutants in inbred populations. We propose that genetic variability may be maintained in colonized and mass reared laboratory populations by balanced lethal systems and that the introduction of fresh genetic material may reduce, not increase, fitness. We require rigorous and precise models of directional selection in the laboratory and selective forces in the natural environment to aid our understanding of dynamic changes in courtship and mating behavior under artificial conditions. We have chosen to examine the lek model as an example of an idea whose usefulness has yet to be determined by test ing and validation. The inclusion of lek forming ability in genetic models will be depen dent on rigorously establishing the validity of the lek model for each tephritid species

SpecBit, DecayBit and PrecisionBit. GAMBIT modules for computing mass spectra, particle decay rates and precision observables

Energy Technology Data Exchange (ETDEWEB)

Athron, Peter; Balazs, Csaba [Monash University, School of Physics and Astronomy, Melbourne, VIC (Australia); Australian Research Council Centre of Excellence for Particle Physics at the Tera-scale (Australia); Dal, Lars A.; Gonzalo, Tomas E. [University of Oslo, Department of Physics, Oslo (Norway); Edsjoe, Joakim; Farmer, Ben [AlbaNova University Centre, Oskar Klein Centre for Cosmoparticle Physics, Stockholm (Sweden); Stockholm University, Department of Physics, Stockholm (Sweden); Kvellestad, Anders [NORDITA, Stockholm (Sweden); McKay, James; Scott, Pat [Imperial College London, Department of Physics, Blackett Laboratory, London (United Kingdom); Putze, Antje [Universite de Savoie, CNRS, LAPTh, Annecy-le-Vieux (France); Rogan, Chris [Harvard University, Department of Physics, Cambridge, MA (United States); Weniger, Christoph [University of Amsterdam, GRAPPA, Institute of Physics, Amsterdam (Netherlands); White, Martin [Australian Research Council Centre of Excellence for Particle Physics at the Tera-scale (Australia); University of Adelaide, Department of Physics, Adelaide, SA (Australia); Collaboration: The GAMBIT Models Workgroup

2018-01-15

We present the GAMBIT modules SpecBit, DecayBit and PrecisionBit. Together they provide a new framework for linking publicly available spectrum generators, decay codes and other precision observable calculations in a physically and statistically consistent manner. This allows users to automatically run various combinations of existing codes as if they are a single package. The modular design allows software packages fulfilling the same role to be exchanged freely at runtime, with the results presented in a common format that can easily be passed to downstream dark matter, collider and flavour codes. These modules constitute an essential part of the broader GAMBIT framework, a major new software package for performing global fits. In this paper we present the observable calculations, data, and likelihood functions implemented in the three modules, as well as the conventions and assumptions used in interfacing them with external codes. We also present 3-BIT-HIT, a command-line utility for computing mass spectra, couplings, decays and precision observables in the MSSM, which shows how the three modules can easily be used independently of GAMBIT. (orig.)

SpecBit, DecayBit and PrecisionBit: GAMBIT modules for computing mass spectra, particle decay rates and precision observables

Science.gov (United States)

Athron, Peter; Balázs, Csaba; Dal, Lars A.; Edsjö, Joakim; Farmer, Ben; Gonzalo, Tomás E.; Kvellestad, Anders; McKay, James; Putze, Antje; Rogan, Chris; Scott, Pat; Weniger, Christoph; White, Martin

2018-01-01

We present the GAMBIT modules SpecBit, DecayBit and PrecisionBit. Together they provide a new framework for linking publicly available spectrum generators, decay codes and other precision observable calculations in a physically and statistically consistent manner. This allows users to automatically run various combinations of existing codes as if they are a single package. The modular design allows software packages fulfilling the same role to be exchanged freely at runtime, with the results presented in a common format that can easily be passed to downstream dark matter, collider and flavour codes. These modules constitute an essential part of the broader GAMBIT framework, a major new software package for performing global fits. In this paper we present the observable calculations, data, and likelihood functions implemented in the three modules, as well as the conventions and assumptions used in interfacing them with external codes. We also present 3-BIT-HIT, a command-line utility for computing mass spectra, couplings, decays and precision observables in the MSSM, which shows how the three modules can easily be used independently of GAMBIT.

Near Zero Energy House (NZEH) Design Optimization to Improve Life Cycle Cost Performance Using Genetic Algorithm

Science.gov (United States)

Latief, Y.; Berawi, M. A.; Koesalamwardi, A. B.; Supriadi, L. S. R.

2018-03-01

Near Zero Energy House (NZEH) is a housing building that provides energy efficiency by using renewable energy technologies and passive house design. Currently, the costs for NZEH are quite expensive due to the high costs of the equipment and materials for solar panel, insulation, fenestration and other renewable energy technology. Therefore, a study to obtain the optimum design of a NZEH is necessary. The aim of the optimum design is achieving an economical life cycle cost performance of the NZEH. One of the optimization methods that could be utilized is Genetic Algorithm. It provides the method to obtain the optimum design based on the combinations of NZEH variable designs. This paper discusses the study to identify the optimum design of a NZEH that provides an optimum life cycle cost performance using Genetic Algorithm. In this study, an experiment through extensive design simulations of a one-level house model was conducted. As a result, the study provide the optimum design from combinations of NZEH variable designs, which are building orientation, window to wall ratio, and glazing types that would maximize the energy generated by photovoltaic panel. Hence, the design would support an optimum life cycle cost performance of the house.

[Precision and personalized medicine].

Science.gov (United States)

Sipka, Sándor

2016-10-01

The author describes the concept of "personalized medicine" and the newly introduced "precision medicine". "Precision medicine" applies the terms of "phenotype", "endotype" and "biomarker" in order to characterize more precisely the various diseases. Using "biomarkers" the homogeneous type of a disease (a "phenotype") can be divided into subgroups called "endotypes" requiring different forms of treatment and financing. The good results of "precision medicine" have become especially apparent in relation with allergic and autoimmune diseases. The application of this new way of thinking is going to be necessary in Hungary, too, in the near future for participants, controllers and financing boards of healthcare. Orv. Hetil., 2016, 157(44), 1739-1741.

Genetic structure of lake whitefish, Coregonus clupeaformis, populations in the northern main basin of Lake Huron

Science.gov (United States)

Stott, Wendylee; Ebener, Mark P.; Mohr, Lloyd; Schaeffer, Jeff; Roseman, Edward F.; Harford, William J.; Johnson, James E.; Fietsch, Cherie-Lee

2012-01-01

Genetic analysis of spawning lake whitefish (Coregonus clupeaformis) from six sites in the main basin of Lake Huron was conducted to determine population structure. Samples from fisheryindependent assessment surveys in the northwest main basin were analyzed to determine the relative contributions of lake whitefish genetic populations. Genetic population structure was identified using data from seven microsatellite DNA loci. One population was identified at Manitoulin Island, one to two were observed in the east-central main basin (Fishing Island and Douglas Point), and one to two populations were found in the northwest (Thunder Bay and Duncan Bay). The genetic identity of collections from Duncan Bay and Thunder Bay was not consistent among methods used to analyze population structure. Low genetic distances suggested that they comprised one population, but genic differences indicated that they may constitute separate populations. Simulated data indicated that the genetic origins of samples from a mixed-fishery could be accurately identified, but accuracy could be improved by incorporating additional microsatellite loci. Mixture analysis and individual assignment tests performed on mixed-stock samples collected from the western main basin suggested that genetic populations from the east-central main basin contributed less than those from the western main basin and that the proportional contribution of each baseline population was similar in each assessment sample. Analysis of additional microsatellite DNA loci may be useful to help improve the precision of the estimates, thus increasing our ability to manage and protect this valuable resource.

The newest precision measurement

International Nuclear Information System (INIS)

Lee, Jing Gu; Lee, Jong Dae

1974-05-01

This book introduces basic of precision measurement, measurement of length, limit gauge, measurement of angles, measurement of surface roughness, measurement of shapes and locations, measurement of outline, measurement of external and internal thread, gear testing, accuracy inspection of machine tools, three dimension coordinate measuring machine, digitalisation of precision measurement, automation of precision measurement, measurement of cutting tools, measurement using laser, and point of choosing length measuring instrument.

Special Issue: Plant Genetics and Biotechnology in Biodiversity

Directory of Open Access Journals (Sweden)

Giandomenico Corrado

2018-03-01

Full Text Available The rapid progress and increasing affordability of novel investigation tools in plant genetics and biotechnology offer previously inaccessible opportunities for the exploitation of plant genetic diversity in agriculture. The Special Issue was lunched to highlight how new technologies are improving both genotyping and phenotyping methods, thus allowing us to uncover crop diversity and use genetic variability for plant breeding with remarkable precision and speed. Three thematic reviews report on scientific, technological, and legal advances in plant diversity and agriculture. Three contributions provide specific examples of the exploitation of different kinds of genetic resources, ranging from landraces to mutant populations. Six research articles are illustrative examples of the study of molecular and/or phenotypic diversity to address basic or applied questions in different plant species. Finally, this SI was also launched to honor the memory of Prof. Gian Tommaso Scarascia Mugnozza and a dedicated Editorial acknowledges his work in plant breeding and biodiversity protection.

Contacting nanowires and nanotubes with atomic precision for electronic transport

KAUST Repository

Qin, Shengyong; Hellstrom, Sondra; Bao, Zhenan; Boyanov, Boyan; Li, An-Ping

2012-01-01

Making contacts to nanostructures with atomic precision is an important process in the bottom-up fabrication and characterization of electronic nanodevices. Existing contacting techniques use top-down lithography and chemical etching, but lack atomic precision and introduce the possibility of contamination. Here, we report that a field-induced emission process can be used to make local contacts onto individual nanowires and nanotubes with atomic spatial precision. The gold nano-islands are deposited onto nanostructures precisely by using a scanning tunneling microscope tip, which provides a clean and controllable method to ensure both electrically conductive and mechanically reliable contacts. To demonstrate the wide applicability of the technique, nano-contacts are fabricated on silicide atomic wires, carbon nanotubes, and copper nanowires. The electrical transport measurements are performed in situ by utilizing the nanocontacts to bridge the nanostructures to the transport probes. © 2012 American Institute of Physics.

Possible modernization of the U-400 cyclotron facilities to perform precise RIB experiments in the vicinity of the Coulomb barrier. (The technical proposal)

International Nuclear Information System (INIS)

Majdikov, V.Z.; Bashevoj, V.V.; Mel'nikov, V.N.

1998-01-01

An analysis of the ion-optical parameters of the existing facilities for precise nuclear reactions experiments at the U-400 cyclotron swichyard shows that some improvement can be made to perform RIB experiments at the Coulomb barrier of interactions. A change in the position of a dozen of quadrupole lenses at the cyclotron switchyard permits one to obtain parameters of magnetic spectrometers adequate for the modern experiments

Precision of INR measured with a patient operated whole blood coagulometer

DEFF Research Database (Denmark)

Attermann, Jørn; Andersen, Niels Trolle; Korsgaard, Helle

2003-01-01

INTRODUCTION: The objective of the present study was to evaluate the precision of a portable whole blood coagulometer (CoaguChek S) in the hands of self-managing patients on oral anticoagulant therapy (OAT). MATERIALS AND METHODS: Fifteen patients on self-managed OAT performed measurements of INR...... and between patients was 15.0% and 14.7%, respectively. CONCLUSION: The precision of CoaguChek S is satisfactory....

Finite Precision Logistic Map between Computational Efficiency and Accuracy with Encryption Applications

Directory of Open Access Journals (Sweden)

Wafaa S. Sayed

2017-01-01

Full Text Available Chaotic systems appear in many applications such as pseudo-random number generation, text encryption, and secure image transfer. Numerical solutions of these systems using digital software or hardware inevitably deviate from the expected analytical solutions. Chaotic orbits produced using finite precision systems do not exhibit the infinite period expected under the assumptions of infinite simulation time and precision. In this paper, digital implementation of the generalized logistic map with signed parameter is considered. We present a fixed-point hardware realization of a Pseudo-Random Number Generator using the logistic map that experiences a trade-off between computational efficiency and accuracy. Several introduced factors such as the used precision, the order of execution of the operations, parameter, and initial point values affect the properties of the finite precision map. For positive and negative parameter cases, the studied properties include bifurcation points, output range, maximum Lyapunov exponent, and period length. The performance of the finite precision logistic map is compared in the two cases. A basic stream cipher system is realized to evaluate the system performance for encryption applications for different bus sizes regarding the encryption key size, hardware requirements, maximum clock frequency, NIST and correlation, histogram, entropy, and Mean Absolute Error analyses of encrypted images.

Precision medicine of aneurysmal subarachnoid hemorrhage, vasospasm and delayed cerebral ischemia.

Science.gov (United States)

Burrell, Christian; Avalon, Nicole E; Siegel, Jason; Pizzi, Michael; Dutta, Tumpa; Charlesworth, M Cristine; Freeman, William D

2016-11-01

Precision medicine provides individualized treatment of diseases through leveraging patient-to-patient variation. Aneurysmal subarachnoid hemorrhage carries tremendous morbidity and mortality with cerebral vasospasm and delayed cerebral ischemia proving devastating and unpredictable. Lack of treatment measures for these conditions could be improved through precision medicine. Areas covered: Discussed are the pathophysiology of CV and DCI, treatment guidelines, and evidence for precision medicine used for prediction and prevention of poor outcomes following aSAH. A PubMed search was performed using keywords cerebral vasospasm or delayed cerebral ischemia and either biomarkers, precision medicine, metabolomics, proteomics, or genomics. Over 200 peer-reviewed articles were evaluated. The studies presented cover biomarkers identified as predictive markers or therapeutic targets following aSAH. Expert commentary: The biomarkers reviewed here correlate with CV, DCI, and neurologic outcomes after aSAH. Though practical use in clinical management of aSAH is not well established, using these biomarkers as predictive tools or therapeutic targets demonstrates the potential of precision medicine.

High precision locating control system based on VCM for Talbot lithography

Science.gov (United States)

Yao, Jingwei; Zhao, Lixin; Deng, Qian; Hu, Song

2016-10-01

Aiming at the high precision and efficiency requirements of Z-direction locating in Talbot lithography, a control system based on Voice Coil Motor (VCM) was designed. In this paper, we built a math model of VCM and its moving characteristic was analyzed. A double-closed loop control strategy including position loop and current loop were accomplished. The current loop was implemented by driver, in order to achieve the rapid follow of the system current. The position loop was completed by the digital signal processor (DSP) and the position feedback was achieved by high precision linear scales. Feed forward control and position feedback Proportion Integration Differentiation (PID) control were applied in order to compensate for dynamic lag and improve the response speed of the system. And the high precision and efficiency of the system were verified by simulation and experiments. The results demonstrated that the performance of Z-direction gantry was obviously improved, having high precision, quick responses, strong real-time and easily to expend for higher precision.

Algorithms for a Precise Determination of the Betatron Tune

CERN Document Server

Bartolini, R; Giovannozzi, Massimo; Todesco, Ezio; Scandale, Walter

1996-01-01

In circular accelerators the precise knowledge of the betatron tune is of paramount importance both for routine operation and for theoretical investigations. The tune is measured by sampling the transverse position of the beam for N turns and by performing the FFT of the stored data. One can also evaluate it by computing the Average Phase Advance (APA) over N turns. These approaches have an intrinsic error proportional to 1/N. However, there are special cases where either a better precision or a faster measurement is desired. More efficient algorithms can be used, as those suggested by E.Asseo [1] and recently by J. Laskar [2]. They provide tune estimates by far more precise than those of a plain FFT, as discussed in Ref. [3]. Another important isssue is the effect of the finite resolution of the instrumentation used to measure the beam position. This introduces a noise and the frequency response of the beam is modified [4,5} thus reducing the precision by which the tune is determined. In Section 2 we recall ...

Force, reaction time, and precision of Kung Fu strikes.

Science.gov (United States)

Neto, Osmar Pinto; Bolander, Richard; Pacheco, Marcos Tadeu Tavares; Bir, Cynthia

2009-08-01

The goal was to compare values of force, precision, and reaction time of several martial arts punches and palm strikes performed by advanced and intermediate Kung Fu practitioners, both men and women. 13 Kung Fu practitioners, 10 men and three women, participated. Only the men, three advanced and seven intermediate, were considered for comparisons between levels. Reaction time values were obtained using two high speed cameras that recorded each strike at 2500 Hz. Force of impact was measured by a load cell. For comparisons of groups, force data were normalized by participant's body mass and height. Precision of the strikes was determined by a high speed pressure sensor. The results show that palm strikes were stronger than punches. Women in the study presented, on average, lower values of reaction time and force but higher values of precision than men. Advanced participants presented higher forces than intermediate participants. Significant negative correlations between the values of force and precision and the values of force and reaction time were also found.

Precise auditory-vocal mirroring in neurons for learned vocal communication.

Science.gov (United States)

Prather, J F; Peters, S; Nowicki, S; Mooney, R

2008-01-17

Brain mechanisms for communication must establish a correspondence between sensory and motor codes used to represent the signal. One idea is that this correspondence is established at the level of single neurons that are active when the individual performs a particular gesture or observes a similar gesture performed by another individual. Although neurons that display a precise auditory-vocal correspondence could facilitate vocal communication, they have yet to be identified. Here we report that a certain class of neurons in the swamp sparrow forebrain displays a precise auditory-vocal correspondence. We show that these neurons respond in a temporally precise fashion to auditory presentation of certain note sequences in this songbird's repertoire and to similar note sequences in other birds' songs. These neurons display nearly identical patterns of activity when the bird sings the same sequence, and disrupting auditory feedback does not alter this singing-related activity, indicating it is motor in nature. Furthermore, these neurons innervate striatal structures important for song learning, raising the possibility that singing-related activity in these cells is compared to auditory feedback to guide vocal learning.

Reliability, precision, and gender differences in knee internal/external rotation proprioception measurements.

Science.gov (United States)

Nagai, Takashi; Sell, Timothy C; Abt, John P; Lephart, Scott M

2012-11-01

To develop and assess the reliability and precision of knee internal/external rotation (IR/ER) threshold to detect passive motion (TTDPM) and determine if gender differences exist. Test-retest for the reliability/precision and cross-sectional for gender comparisons. University neuromuscular and human performance research laboratory. Ten subjects for the reliability and precision aim. Twenty subjects (10 males and 10 females) for gender comparisons. All TTDPM tests were performed using a multi-mode dynamometer. Subjects performed TTDPM at two knee positions (near IR or ER end-range). Intraclass correlation coefficient (ICC (3,k)) and standard error of measurement (SEM) were used to evaluate the reliability and precision. Independent t-tests were used to compare genders. TTDPM toward IR and ER at two knee positions. Intrasession and intersession reliability and precision were good (ICC=0.68-0.86; SEM=0.22°-0.37°). Females had significantly diminished TTDPM toward IR at IR-test position (males: 0.77°±0.14°, females: 1.18°±0.46°, p=0.021) and TTDPM toward IR at the ER-test position (males: 0.87°±0.13°, females: 1.36°±0.58°, p=0.026). No other significant gender differences were found (p>0.05). The current IR/ER TTDPM methods are reliable and accurate for the test-retest or cross-section research design. Gender differences were found toward IR where the ACL acts as the secondary restraint. Copyright © 2011 Elsevier Ltd. All rights reserved.

Optimization Design by Genetic Algorithm Controller for Trajectory Control of a 3-RRR Parallel Robot

Directory of Open Access Journals (Sweden)

Lianchao Sheng

2018-01-01

Full Text Available In order to improve the control precision and robustness of the existing proportion integration differentiation (PID controller of a 3-Revolute–Revolute–Revolute (3-RRR parallel robot, a variable PID parameter controller optimized by a genetic algorithm controller is proposed in this paper. Firstly, the inverse kinematics model of the 3-RRR parallel robot was established according to the vector method, and the motor conversion matrix was deduced. Then, the error square integral was chosen as the fitness function, and the genetic algorithm controller was designed. Finally, the control precision of the new controller was verified through the simulation model of the 3-RRR planar parallel robot—built in SimMechanics—and the robustness of the new controller was verified by adding interference. The results show that compared with the traditional PID controller, the new controller designed in this paper has better control precision and robustness, which provides the basis for practical application.

Assessment of nuclear and mitochondrial genes in precise identification and analysis of genetic polymorphisms for the evaluation of Leishmania parasites.

Science.gov (United States)

Fotouhi-Ardakani, Reza; Dabiri, Shahriar; Ajdari, Soheila; Alimohammadian, Mohammad Hossein; AlaeeNovin, Elnaz; Taleshi, Neda; Parvizi, Parviz

2016-12-01

The polymorphism and genetic diversity of Leishmania genus has status under discussion depending on many items such as nuclear and/or mitochondrial genes, molecular tools, Leishmania species, geographical origin, condition of micro-environment of Leishmania parasites and isolation of Leishmania from clinical samples, reservoir host and vectors. The genetic variation of Leishmania species (L. major, L. tropica, L. tarentolae, L. mexicana, L. infantum) were analyzed and compared using mitochondrial (COII and Cyt b) and nuclear (nagt, ITS-rDNA and HSP70) genes. The role of each enzymatic (COII, Cyt b and nagt) or housekeeping (ITS-rDNA, HSP70) gene was employed for accurate identification of Leishmania parasites. After DNA extractions and amplifying of native, natural and reference strains of Leishmania parasites, polymerase chain reaction (PCR) products were sequenced and evaluation of genetic proximity and phylogenetic analysis were performed using MEGA6 and DnaSP5 software. Among the 72 sequences of the five genes, the number of polymorphic sites was significantly lower as compared to the monomorphic sites. Of the 72 sequences, 54 new haplotypes (five genes) of Leishmania species were submitted in GenBank (Access number: KU680818 - KU680871). Four genes had a remarkable number of informative sites (P=0.00), except HSP70 maybe because of its microsatellite regions. The non-synonymous (dN) variants of nagt gene were more than that of other expression genes (47.4%). The synonymous (dS)/dN ratio in three expression genes showed a significant variation between five Leishmania species (P=0.001). The highest and lowest levels of haplotype diversity were observed in L. tropica (81.35%) and L. major (28.38%) populations, respectively. Tajima's D index analyses showed that Cyt b gene in L. tropica species was significantly negative (Tajima's D=-2.2, PLeishmania parasites. Copyright © 2016 Elsevier B.V. All rights reserved.

Selective Attention to Auditory Memory Neurally Enhances Perceptual Precision.

Science.gov (United States)

Lim, Sung-Joo; Wöstmann, Malte; Obleser, Jonas

2015-12-09

Selective attention to a task-relevant stimulus facilitates encoding of that stimulus into a working memory representation. It is less clear whether selective attention also improves the precision of a stimulus already represented in memory. Here, we investigate the behavioral and neural dynamics of selective attention to representations in auditory working memory (i.e., auditory objects) using psychophysical modeling and model-based analysis of electroencephalographic signals. Human listeners performed a syllable pitch discrimination task where two syllables served as to-be-encoded auditory objects. Valid (vs neutral) retroactive cues were presented during retention to allow listeners to selectively attend to the to-be-probed auditory object in memory. Behaviorally, listeners represented auditory objects in memory more precisely (expressed by steeper slopes of a psychometric curve) and made faster perceptual decisions when valid compared to neutral retrocues were presented. Neurally, valid compared to neutral retrocues elicited a larger frontocentral sustained negativity in the evoked potential as well as enhanced parietal alpha/low-beta oscillatory power (9-18 Hz) during memory retention. Critically, individual magnitudes of alpha oscillatory power (7-11 Hz) modulation predicted the degree to which valid retrocues benefitted individuals' behavior. Our results indicate that selective attention to a specific object in auditory memory does benefit human performance not by simply reducing memory load, but by actively engaging complementary neural resources to sharpen the precision of the task-relevant object in memory. Can selective attention improve the representational precision with which objects are held in memory? And if so, what are the neural mechanisms that support such improvement? These issues have been rarely examined within the auditory modality, in which acoustic signals change and vanish on a milliseconds time scale. Introducing a new auditory memory

Updates on genome-wide association findings in eating disorders and future application to precision medicine.

Science.gov (United States)

Breithaupt, Lauren; Hubel, Christopher; Bulik, Cynthia M

2018-02-22

Heterogeneity, frequent diagnostic fluctuation across presentations, and global concerns with the absence of effective treatments all encourage science that moves the field toward individualized or precision medicine in eating disorders. We review recent advances in psychiatric genetics focusing on genome-wide association studies (GWAS) in eating disorders and enumerate the prospects and challenges of a genomics-driven approach towards personalized intervention. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Laser precision microfabrication in Japan

Science.gov (United States)

Miyamoto, Isamu; Ooie, Toshihiko; Takeno, Shozui

2000-11-01

Electronic devices such as handy phones and micro computers have been rapidly expanding their market recent years due to their enhanced performance, down sizing and cost down. This has been realized by the innovation in the precision micro- fabrication technology of semiconductors and printed wiring circuit boards (PWB) where laser technologies such as lithography, drilling, trimming, welding and soldering play an important role. In phot lithography, for instance, KrF excimer lasers having a resolution of 0.18 micrometers has been used in production instead of mercury lamp. Laser drilling of PWB has been increased up to over 1000 holes per second, and approximately 800 laser drilling systems of PWB are expected to be delivered in the world market this year, and most of these laser processing systems are manufactured in Japan. Trend of laser micro-fabrication in Japanese industry is described along with recent topics of R&D, government supported project and future tasks of industrial laser precision micro-fabrication on the basis of the survey conducted by Japan laser Processing Society.

Analysis and Optimization of Dynamic Measurement Precision of Fiber Optic Gyroscope

Directory of Open Access Journals (Sweden)

Hui Li

2013-01-01

Full Text Available In order to improve the dynamic performance of high precision interferometer fiber optic gyroscope (IFOG, the influencing factors of the fast response characteristics are analyzed based on a proposed assistant design setup, and a high dynamic detection method is proposed to suppress the adverse effects of the key influencing factors. The assistant design platform is built by using the virtual instrument technology for IFOG, which can monitor the closed-loop state variables in real time for analyzing the influence of both the optical components and detection circuit on the dynamic performance of IFOG. The analysis results indicate that nonlinearity of optical Sagnac effect, optical parameter uncertainty, dynamic characteristics of internal modules and time delay of signal detection circuit are the major causes of dynamic performance deterioration, which can induce potential system instability in practical control systems. By taking all these factors into consideration, we design a robust control algorithm to realize the high dynamic closed-loop detection of IFOG. Finally, experiments show that the improved 0.01 deg/h high precision IFOG with the proposed control algorithm can achieve fast tracking and good dynamic measurement precision.

Genetic relationships between carcass cut weights predicted from video image analysis and other performance traits in cattle.

Science.gov (United States)

Pabiou, T; Fikse, W F; Amer, P R; Cromie, A R; Näsholm, A; Berry, D P

2012-09-01

The objective of this study was to quantify the genetic associations between a range of carcass-related traits including wholesale cut weights predicted from video image analysis (VIA) technology, and a range of pre-slaughter performance traits in commercial Irish cattle. Predicted carcass cut weights comprised of cut weights based on retail value: lower value cuts (LVC), medium value cuts (MVC), high value cuts (HVC) and very high value cuts (VHVC), as well as total meat, fat and bone weights. Four main sources of data were used in the genetic analyses: price data of live animals collected from livestock auctions, live-weight data and linear type collected from both commercial and pedigree farms as well as from livestock auctions and weanling quality recorded on-farm. Heritability of carcass cut weights ranged from 0.21 to 0.39. Genetic correlations between the cut traits and the other performance traits were estimated using a series of bivariate sire linear mixed models where carcass cut weights were phenotypically adjusted to a constant carcass weight. Strongest positive genetic correlations were obtained between predicted carcass cut weights and carcass value (min r g(MVC) = 0.35; max r(g(VHVC)) = 0.69), and animal price at both weaning (min r(g(MVC)) = 0.37; max r(g(VHVC)) = 0.66) and post weaning (min r(g(MVC)) = 0.50; max r(g(VHVC)) = 0.67). Moderate genetic correlations were obtained between carcass cut weights and calf price (min r g(HVC) = 0.34; max r g(LVC) = 0.45), weanling quality (min r(g(MVC)) = 0.12; max r (g(VHVC)) = 0.49), linear scores for muscularity at both weaning (hindquarter development: min r(g(MVC)) = -0.06; max r(g(VHVC)) = 0.46), post weaning (hindquarter development: min r(g(MVC)) = 0.23; max r(g(VHVC)) = 0.44). The genetic correlations between total meat weight were consistent with those observed with the predicted wholesale cut weights. Total fat and total bone weights were generally negatively correlated with carcass value, auction

[Current options of preimplantion genetic screening and preimplantation genetic diagnostics].

Science.gov (United States)

Šimečková, V

The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. A review article. Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother. These specialized examinations are based on the latest findings in genetics and assisted reproduction. The preimplantation genetic testing is necessarily associated with a method of in vitro fertilization. It is performed on isolated blastomeres on the third day of embryo cultivation. Nowadays, it is preferred trophectoderm examination of cells from the five-day blastocysts. Generally speaking, after preimplantation genetic testing, we can select only embryos without genetic load to transfer into uterus. Preimplantation genetic testing is an important part of treatment of infertility. Complex diagnostics and treatment of infertile couples are increasingly influenced by the development and use of advanced genomic technologies. Further development and application of these modern methods require close cooperation between the field of assisted reproduction and clinical genetics.

Low Genetic Variation of Red-Crowned Cranes on Hokkaido Island, Japan, Over the Hundred Years.

Science.gov (United States)

Akiyama, Takuya; Momose, Kunikazu; Onuma, Manabu; Matsumoto, Fumio; Masuda, Ryuichi

2017-06-01

The red-crowned crane (Grus japonensis) is recognized internationally as an endangered species. Migratory populations breed in eastern Russia and northeastern China, whereas the resident population inhabits the island of Hokkaido, Japan. Although the population inhabiting Hokkaido had experienced a severe bottleneck by the end of the 19th century, the population size has recovered to about 1500 and continues to increase now thanks to conservation efforts. A previous study reported that no marked genetic differences were seen in the island population, and that the genetic variation of the whole population on Hokkaido was lower than that of the continental population. However, the precise genetic structure of the island population in the past or near present remains unclear. To better understand the spatiotemporal changes in the genetic structure of the island population, we performed mitochondrial DNA (mtDNA) analyses using stuffed specimens (years 1878-2001) and tissue or blood samples (years 1970-2014). We found three haplotypes in the island population, one of which was a novel mtDNA haplotype in 1997 and 2007 samples. In addition, there was no clear difference in the haplotype frequency through the time span. These results suggest that the low genetic variation of the island population persisted for the last hundred years. It is thus nearly impossible for the island population to recover its genetic variation in isolation. Conservation plans for this species should therefore include the promotion of genetic exchanges between the continental and island populations, such as through artificial introduction to Hokkaido.

Application of Smart Infrastructure Systems approach to precision medicine

Directory of Open Access Journals (Sweden)

Diddahally R. Govindaraju

2015-12-01

Full Text Available All biological variation is hierarchically organized dynamic network system of genomic components, organelles, cells, tissues, organs, individuals, families, populations and metapopulations. Individuals are axial in this hierarchy, as they represent antecedent, attendant and anticipated aspects of health, disease, evolution and medical care. Humans show individual specific genetic and clinical features such as complexity, cooperation, resilience, robustness, vulnerability, self-organization, latent and emergent behavior during their development, growth and senescence. Accurate collection, measurement, organization and analyses of individual specific data, embedded at all stratified levels of biological, demographic and cultural diversity – the big data – is necessary to make informed decisions on health, disease and longevity; which is a central theme of precision medicine initiative (PMI. This initiative also calls for the development of novel analytical approaches to handle complex multidimensional data. Here we suggest the application of Smart Infrastructure Systems (SIS approach to accomplish some of the goals set forth by the PMI on the premise that biological systems and the SIS share many common features. The latter has been successfully employed in managing complex networks of non-linear adaptive controls, commonly encountered in smart engineering systems. We highlight their concordance and discuss the utility of the SIS approach in precision medicine programs.

Molecular Pathology: A Requirement for Precision Medicine in Cancer.

Science.gov (United States)

Dietel, Manfred

2016-01-01

The increasing importance of targeting drugs and check-point inhibitors in the treatment of several tumor entities (breast, colon, lung, malignant melanoma, lymphoma, etc.) and the necessity of a companion diagnostic (HER2, (pan)RAS, EGFR, ALK, BRAF, ROS1, MET, PD-L1, etc.) is leading to new challenges for surgical pathology. Since almost all the biomarkers to be specifically detected are tissue based, a precise and reliable diagnostic is absolutely crucial. To meet this challenge surgical pathology has adapted a number of molecular methods (semi-quantitative immunohistochemistry, fluorescence in situ hybridization, PCR and its multiple variants, (pyro/Sanger) sequencing, next generation sequencing (amplicon, whole exome, whole genome), DNA arrays, methylation analyses, etc.) to be applicable for formalin-fixed paraffin-embedded tissue. Reading a patient's tissue as 'deeply' as possible and obtaining information on the morphological, genetic, proteomic and epigenetic background are the tasks of pathologists and molecular biologists and provide the clinicians with information relevant for precision medicine. Intensified cooperation between clinicians and pathologists will provide the basis of improved clinical drug selection and guide development of new cancer gene therapies and molecularly targeted drugs by research units and the pharmaceutical industry. © 2016 S. Karger GmbH, Freiburg.

High precision timing in a FLASH

Energy Technology Data Exchange (ETDEWEB)

Hoek, Matthias; Cardinali, Matteo; Dickescheid, Michael; Schlimme, Soeren; Sfienti, Concettina; Spruck, Bjoern; Thiel, Michaela [Institut fuer Kernphysik, Johannes Gutenberg-Universitaet Mainz (Germany)

2016-07-01

A segmented highly precise start counter (FLASH) was designed and constructed at the Institute for Nuclear Physics in Mainz. Besides determining a precise reference time, a Time-of-Flight measurement can be performed with two identical FLASH units. Thus, particle identification can be provided for mixed hadron beam environments. The detector design is based on the detection of Cherenkov light produced in fused silica radiator bars with fast multi-anode MCP-PMTs. The segmentation of the radiator improves the timing resolution while allowing a coarse position resolution along one direction. Both, the arrival time and the Time-over-Threshold are determined by the readout electronics, which enables walk correction of the arrival time. The performance of two FLASH units was investigated in test experiments at the Mainz Microton (MAMI) using an electron beam with an energy of 855 MeV and at CERN's PS T9 beam line with a mixed hadron beam with momenta between 3-8 GeV/c. Effective Time-walk correction methods based on Time-over-Threshold were developed for the data analysis. The achieved Time-Of-Flight resolution after applying all corrections was found to be 70 ps. Furthermore, the PID and position resolution capabilities are discussed in this contribution.

TRACEABILITY OF PRECISION MEASUREMENTS ON COORDINATE MEASURING MACHINES – TRACEABILITY, CALIBRATION AND PERFORMANCE VERIFICATION

DEFF Research Database (Denmark)

Bariani, Paolo; De Chiffre, Leonardo; Tosello, Guido

This document is used in connection with an exercise of 1 hour duration as a part of the course VISION ONLINE – One week course on Precision & Nanometrology. The exercise concerns establishment of traceability of measurements with optical coordinate machine by mean of using two different calibrated...

Guide and Position of the International Society of Nutrigenetics/Nutrigenomics on Personalized Nutrition: Part 2 - Ethics, Challenges and Endeavors of Precision Nutrition.

Science.gov (United States)

Kohlmeier, Martin; De Caterina, Raffaele; Ferguson, Lynnette R; Görman, Ulf; Allayee, Hooman; Prasad, Chandan; Kang, Jing X; Nicoletti, Carolina Ferreira; Martinez, J Alfredo

2016-01-01

Nutrigenetics considers the influence of individual genetic variation on differences in response to dietary components, nutrient requirements and predisposition to disease. Nutrigenomics involves the study of interactions between the genome and diet, including how nutrients affect the transcription and translation process plus subsequent proteomic and metabolomic changes, and also differences in response to dietary factors based on the individual genetic makeup. Personalized characteristics such as age, gender, physical activity, physiological state and social status, and special conditions such as pregnancy and risk of disease can inform dietary advice that more closely meets individual needs. Precision nutrition has a promising future in treating the individual according to their phenotype and genetic characteristics, aimed at both the treatment and prevention of disease. However, many aspects are still in progress and remain as challenges for the future of nutrition. The integration of the human genotype and microbiome needs to be better understood. Further advances in data interpretation tools are also necessary, so that information obtained through newer tests and technologies can be properly transferred to consumers. Indeed, precision nutrition will integrate genetic data with phenotypical, social, cultural and personal preferences and lifestyles matters to provide a more individual nutrition, but considering public health perspectives, where ethical, legal and policy aspects need to be defined and implemented. © 2016 S. Karger AG, Basel.

Precision Study of the $\\beta$-decay of $^{62}$Ga

CERN Multimedia

2002-01-01

It is proposed to perform a precision study of the $\\beta$-decay of $\\,^{62}$Ga taking advantage of recent developments of the ISOLDE Laser Ion Source. The goal is to eventually extend the high-precision knowledge of superallowed $\\beta$-decays beyond the nine decays that presently are used for extracting the V$_{ud}$ quark mixing matrix element of the CKM matrix. The scientific motivations are the current deviation of more than 2$\\sigma$ of the unitary condition of this matrix, which could be an indication of non-standard-model physics, and a test of the theoretical corrections applied to the experimental data. The experiment will utilise the Total Absorption $\\gamma$-ray (TAG) spectrometer in order to determine weak branchings to excited states in $^{62}$Zn and the ISOLDE spectroscopy station to perform half-life measurements and detailed spectroscopy of this nucleus.

Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment.

Science.gov (United States)

Johnston, Timothy; Chandra, Aman; Hewitt, Alex W

2016-06-01

Rhegmatogenous retinal detachment (RRD) is a common and potentially blinding surgical retinal disease. While the precise molecular mechanisms leading to RRD are poorly understood, there is an increasing body of literature supporting the role of heritable factors in the pathogenesis of the condition. Much work has been undertaken investigating genes important in syndromic forms of RRD (e.g., Stickler, Wagner Syndrome, etc.) and research pertaining to genetic investigations of idiopathic or non-syndromic RRD has also recently been reported. To date, at least 12 genetic loci have been implicated in the development of syndromes of which RRD is a feature. A recent GWAS identified five loci implicated in the development of idiopathic RRD.This article provides an overview of the genetic mechanisms of both syndromic and idiopathic RRD. The genetics of predisposing conditions, such as myopia and lattice degeneration, are also discussed.

Columbia River Stock Identification Study; Validation of Genetic Method, 1980-1981 Final Report.

Energy Technology Data Exchange (ETDEWEB)

Milner, George B.; Teel, David J.; Utter, Fred M. (Northwest and Alaska Fisheries Science Center, Coastal Zone and Estuarine Studies Division, Seattle, WA)

1981-06-01

The reliability of a method for obtaining maximum likelihood estimate of component stocks in mixed populations of salmonids through the frequency of genetic variants in a mixed population and in potentially contributing stocks was tested in 1980. A data base of 10 polymorphic loci from 14 hatchery stocks of spring chinook salmon of the Columbia River was used to estimate proportions of these stocks in four different blind'' mixtures whose true composition was only revealed subsequent to obtaining estimates. The accuracy and precision of these blind tests have validated the genetic method as a valuable means for identifying components of stock mixtures. Properties of the genetic method were further examined by simulation studies using the pooled data of the four blind tests as a mixed fishery. Replicated tests with samples sizes between 100 and 1,000 indicated that actual standard deviations on estimated contributions were consistently lower than calculated standard deviations; this difference diminished as sample size increased. It is recommended that future applications of the method be preceded by simulation studies that will identify appropriate levels of sampling required for acceptable levels of accuracy and precision. Variables in such studies include the stocks involved, the loci used, and the genetic differentiation among stocks. 8 refs., 6 figs., 4 tabs.

Precise Point Positioning with the BeiDou Navigation Satellite System

Directory of Open Access Journals (Sweden)

Min Li

2014-01-01

Full Text Available By the end of 2012, China had launched 16 BeiDou-2 navigation satellites that include six GEOs, five IGSOs and five MEOs. This has provided initial navigation and precise pointing services ability in the Asia-Pacific regions. In order to assess the navigation and positioning performance of the BeiDou-2 system, Wuhan University has built up a network of BeiDou Experimental Tracking Stations (BETS around the World. The Position and Navigation Data Analyst (PANDA software was modified to determine the orbits of BeiDou satellites and provide precise orbit and satellite clock bias products from the BeiDou satellite system for user applications. This article uses the BeiDou/GPS observations of the BeiDou Experimental Tracking Stations to realize the BeiDou and BeiDou/GPS static and kinematic precise point positioning (PPP. The result indicates that the precision of BeiDou static and kinematic PPP reaches centimeter level. The precision of BeiDou/GPS kinematic PPP solutions is improved significantly compared to that of BeiDou-only or GPS-only kinematic PPP solutions. The PPP convergence time also decreases with the use of combined BeiDou/GPS systems.

Precise point positioning with the BeiDou navigation satellite system.

Science.gov (United States)

Li, Min; Qu, Lizhong; Zhao, Qile; Guo, Jing; Su, Xing; Li, Xiaotao

2014-01-08

By the end of 2012, China had launched 16 BeiDou-2 navigation satellites that include six GEOs, five IGSOs and five MEOs. This has provided initial navigation and precise pointing services ability in the Asia-Pacific regions. In order to assess the navigation and positioning performance of the BeiDou-2 system, Wuhan University has built up a network of BeiDou Experimental Tracking Stations (BETS) around the World. The Position and Navigation Data Analyst (PANDA) software was modified to determine the orbits of BeiDou satellites and provide precise orbit and satellite clock bias products from the BeiDou satellite system for user applications. This article uses the BeiDou/GPS observations of the BeiDou Experimental Tracking Stations to realize the BeiDou and BeiDou/GPS static and kinematic precise point positioning (PPP). The result indicates that the precision of BeiDou static and kinematic PPP reaches centimeter level. The precision of BeiDou/GPS kinematic PPP solutions is improved significantly compared to that of BeiDou-only or GPS-only kinematic PPP solutions. The PPP convergence time also decreases with the use of combined BeiDou/GPS systems.

What’s new in genetics of congenital heart defects

Directory of Open Access Journals (Sweden)

Maria Cristina Digilio

2016-12-01

Full Text Available Epidemiological studies, clinical observations and advances in molecular genetics are contributing to the understanding of the etiology of congenital heart defects (CHDs. Several phenotype-genotype correlation studies have suggested that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype. The use of new technologies has increased the possibility of identification of new genes and chromosomal loci in syndromic and non-syndromic CHDs. There are a number of methods available for genetic research studies of CHDs, including cytogenetic analysis, linkage and association studies, copy number variation (CNV and DNA micro-array analysis, and whole exome sequencing. The altered dosage of contigous genes included inside CNVs can produce new syndromic CHDs, so that several different new genomic conditions have been identified. These include duplication 22q11.2 syndrome, distal 22q11.2 deletion syndrome, deletion and duplication 1q21.1, deletion 1p36 syndrome. Molecular techniques as whole exome sequancing has lead to the identification of new genes for monogenic syndromes with CHD, as for example in Adams-Oliver, Noonan and Kabuki syndrome. The variable expressivity and reduced penetrance of CHDs in genetic syndromes is likely influenced by genetic factors, and several studies have been performed showing the involvement of modifier genes. It is not easy to define precisely the genetic defects underlying non-syndromic CHDs, due to the genetic and clinical heterogeneity of these malformations. Recent experimental studies have identified multiple CNVs contributing to non-syndromic CHD. The number of identified genes for non-syndromic CHDs is at this time limited and each of the identified gene has been shown to be implicated only in a small proportion of CHD. The application of new technologies to specific cases of CHD and pedigrees with familial recurrence and filtering genes mapping in CNV regions can probably

Genetic modification and its impact on industry structure and performance: post-harvest deterioration of cassava in Thailand

NARCIS (Netherlands)

Vlaar, P.W.L.; Beek, van P.; Visser, R.G.F.

2007-01-01

Genetic modification has led to fierce debates around the world. Nevertheless, scientific evidence for its potential effects on the structure and performance of industries has hitherto remained rather meagre. In this article, we take some preliminary steps towards closing this gap by exploring the

High-precision approach to localization scheme of visible light communication based on artificial neural networks and modified genetic algorithms

Science.gov (United States)

Guan, Weipeng; Wu, Yuxiang; Xie, Canyu; Chen, Hao; Cai, Ye; Chen, Yingcong

2017-10-01

An indoor positioning algorithm based on visible light communication (VLC) is presented. This algorithm is used to calculate a three-dimensional (3-D) coordinate of an indoor optical wireless environment, which includes sufficient orders of multipath reflections from reflecting surfaces of the room. Leveraging the global optimization ability of the genetic algorithm (GA), an innovative framework for 3-D position estimation based on a modified genetic algorithm is proposed. Unlike other techniques using VLC for positioning, the proposed system can achieve indoor 3-D localization without making assumptions about the height or acquiring the orientation angle of the mobile terminal. Simulation results show that an average localization error of less than 1.02 cm can be achieved. In addition, in most VLC-positioning systems, the effect of reflection is always neglected and its performance is limited by reflection, which makes the results not so accurate for a real scenario and the positioning errors at the corners are relatively larger than other places. So, we take the first-order reflection into consideration and use artificial neural network to match the model of a nonlinear channel. The studies show that under the nonlinear matching of direct and reflected channels the average positioning errors of four corners decrease from 11.94 to 0.95 cm. The employed algorithm is emerged as an effective and practical method for indoor localization and outperform other existing indoor wireless localization approaches.

The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research.

Science.gov (United States)

Calafell, Francesc; Larmuseau, Maarten H D

2017-05-01

The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with the patrilineage and paternal inherited surname. Other markers have not been found (yet) to overrule this status due to the low sensitivity and precision of autosomal DNA for genetic genealogical applications, given the vagaries of recombination, and the lower capacities of mitochondrial DNA combined with an in general much lower interest in maternal lineages. The current knowledge about the Y chromosome and the availability of markers with divergent mutation rates make it possible to answer questions on relatedness levels which differ in time depth; from the individual and familial level to the surnames, clan and population level. The use of the Y chromosome in genetic genealogy has led to applications in several well-established research disciplines; namely in, e.g., family history, demography, anthropology, forensic sciences, population genetics and sex chromosome evolution. The information obtained from analysing this chromosome is not only interesting for academic scientists but also for the huge and lively community of amateur genealogists and citizen-scientists, fascinated in analysing their own genealogy or surname. This popularity, however, has also some drawbacks, mainly for privacy reasons related to the DNA donor, his close family and far-related namesakes. In this review paper we argue why Y-chromosomal analysis and its genetic genealogical applications will still perform an important role in future interdisciplinary research.

Feasibility of the Precise Energy Calibration for Fast Neutron Spectrometers

Science.gov (United States)

Gaganov, V. V.; Usenko, P. L.; Kryzhanovskaja, M. A.

2017-12-01

Computational studies aimed at improving the accuracy of measurements performed using neutron generators with a tritium target were performed. A measurement design yielding an extremely narrow peak in the energy spectrum of DT neutrons was found. The presence of such a peak establishes the conditions for precise energy calibration of fast-neutron spectrometers.

Large resistive 2D Micromegas with genetic multiplexing and some imaging applications

Science.gov (United States)

Bouteille, S.; Attié, D.; Baron, P.; Calvet, D.; Magnier, P.; Mandjavidze, I.; Procureur, S.; Riallot, M.

2016-10-01

The performance of the first large resistive Micromegas detectors with 2D readout and genetic multiplexing is presented. These detectors have a 50 × 50cm2 active area and are equipped with 1024 strips both in X- and Y-directions. The same genetic multiplexing pattern is applied on both coordinates, resulting in the compression of signals on 2 × 61 readout channels. Four such detectors have been built at CERN, and extensively tested with cosmics. The resistive strip film allows for very high gain operation, compensating for the charge spread on the 2 dimensions as well as the S / N loss due to the huge, 1 nF input capacitance. This film also creates a significantly different signal shape in the X- and Y-coordinates due to the charge evacuation along the resistive strips. All in all a detection efficiency above 95% is achieved with a 1 cm drift gap. Though not yet optimal, the measured 300 μm spatial resolution allows for very precise imaging in the field of muon tomography, and some applications of these detectors are presented.

Electroweak precision measurements in CMS

CERN Document Server

Dordevic, Milos

2017-01-01

An overview of recent results on electroweak precision measurements from the CMS Collaboration is presented. Studies of the weak boson differential transverse momentum spectra, Z boson angular coefficients, forward-backward asymmetry of Drell-Yan lepton pairs and charge asymmetry of W boson production are made in comparison to the state-of-the-art Monte Carlo generators and theoretical predictions. The results show a good agreement with the Standard Model. As a proof of principle for future W mass measurements, a W-like analysis of the Z boson mass is performed.

Rigorous high-precision enclosures of fixed points and their invariant manifolds

Science.gov (United States)

Wittig, Alexander N.

The well established concept of Taylor Models is introduced, which offer highly accurate C0 enclosures of functional dependencies, combining high-order polynomial approximation of functions and rigorous estimates of the truncation error, performed using verified arithmetic. The focus of this work is on the application of Taylor Models in algorithms for strongly non-linear dynamical systems. A method is proposed to extend the existing implementation of Taylor Models in COSY INFINITY from double precision coefficients to arbitrary precision coefficients. Great care is taken to maintain the highest efficiency possible by adaptively adjusting the precision of higher order coefficients in the polynomial expansion. High precision operations are based on clever combinations of elementary floating point operations yielding exact values for round-off errors. An experimental high precision interval data type is developed and implemented. Algorithms for the verified computation of intrinsic functions based on the High Precision Interval datatype are developed and described in detail. The application of these operations in the implementation of High Precision Taylor Models is discussed. An application of Taylor Model methods to the verification of fixed points is presented by verifying the existence of a period 15 fixed point in a near standard Henon map. Verification is performed using different verified methods such as double precision Taylor Models, High Precision intervals and High Precision Taylor Models. Results and performance of each method are compared. An automated rigorous fixed point finder is implemented, allowing the fully automated search for all fixed points of a function within a given domain. It returns a list of verified enclosures of each fixed point, optionally verifying uniqueness within these enclosures. An application of the fixed point finder to the rigorous analysis of beam transfer maps in accelerator physics is presented. Previous work done by

Getting nowhere fast: trade-off between speed and precision in training to execute image-guided hand-tool movements

Directory of Open Access Journals (Sweden)

Anil Ufuk Batmaz

2016-11-01

Full Text Available Abstract Background The speed and precision with which objects are moved by hand or hand-tool interaction under image guidance depend on a specific type of visual and spatial sensorimotor learning. Novices have to learn to optimally control what their hands are doing in a real-world environment while looking at an image representation of the scene on a video monitor. Previous research has shown slower task execution times and lower performance scores under image-guidance compared with situations of direct action viewing. The cognitive processes for overcoming this drawback by training are not yet understood. Methods We investigated the effects of training on the time and precision of direct view versus image guided object positioning on targets of a Real-world Action Field (RAF. Two men and two women had to learn to perform the task as swiftly and as precisely as possible with their dominant hand, using a tool or not and wearing a glove or not. Individuals were trained in sessions of mixed trial blocks with no feed-back. Results As predicted, image-guidance produced significantly slower times and lesser precision in all trainees and sessions compared with direct viewing. With training, all trainees get faster in all conditions, but only one of them gets reliably more precise in the image-guided conditions. Speed-accuracy trade-offs in the individual performance data show that the highest precision scores and steepest learning curve, for time and precision, were produced by the slowest starter. Fast starters produced consistently poorer precision scores in all sessions. The fastest starter showed no sign of stable precision learning, even after extended training. Conclusions Performance evolution towards optimal precision is compromised when novices start by going as fast as they can. The findings have direct implications for individual skill monitoring in training programmes for image-guided technology applications with human operators.

High precision efficiency calibration of a HPGe detector

International Nuclear Information System (INIS)

Nica, N.; Hardy, J.C.; Iacob, V.E.; Helmer, R.G.

2003-01-01

Many experiments involving measurements of γ rays require a very precise efficiency calibration. Since γ-ray detection and identification also requires good energy resolution, the most commonly used detectors are of the coaxial HPGe type. We have calibrated our 70% HPGe to ∼ 0.2% precision, motivated by the measurement of precise branching ratios (BR) in superallowed 0 + → 0 + β decays. These BRs are essential ingredients in extracting ft-values needed to test the Standard Model via the unitarity of the Cabibbo-Kobayashi-Maskawa matrix, a test that it currently fails by more than two standard deviations. To achieve the required high precision in our efficiency calibration, we measured 17 radioactive sources at a source-detector distance of 15 cm. Some of these were commercial 'standard' sources but we achieved the highest relative precision with 'home-made' sources selected because they have simple decay schemes with negligible side feeding, thus providing exactly matched γ-ray intensities. These latter sources were produced by us at Texas A and M by n-activation or by nuclear reactions. Another critical source among the 17 was a 60 Co source produced by Physikalisch-Technische Bundesanstalt, Braunschweig, Germany: its absolute activity was quoted to better than 0.06%. We used it to establish our absolute efficiency, while all the other sources were used to determine relative efficiencies, extending our calibration over a large energy range (40-3500 keV). Efficiencies were also determined with Monte Carlo calculations performed with the CYLTRAN code. The physical parameters of the Ge crystal were independently determined and only two (unmeasurable) dead-layers were adjusted, within physically reasonable limits, to achieve precise absolute agreement with our measured efficiencies. The combination of measured efficiencies at more than 60 individual energies and Monte Carlo calculations to interpolate between them allows us to quote the efficiency of our

Precision of different quantitative ultrasound densitometers

International Nuclear Information System (INIS)

Pocock, N.A.; Harris, N.D.; Griffiths, M.R.

1998-01-01

Full text: Quantitative ultrasound (QUS) of the calcaneus, which measures Speed of Sound (SOS) and Broadband ultrasound attenuation (BUA), is predictive of the risk of osteoporotic fracture. However, the utility of QUS for predicting fracture risk or for monitoring treatment efficacy depends on its precision and reliability. Published results and manufacturers data vary significantly due to differences in statistical methodology. We have assessed the precision of the current model of the Lunar Achilles and the McCue Cuba QUS densitometers; the most commonly used QUS machines in Australia. Twenty seven subjects had duplicate QUS measurements performed on the same day on both machines. These data were used to calculate the within pair standard deviation (SD) the co-efficient of variation, CV and the standardised co efficient of variation (sCV) which is corrected for the dynamic range. In addition, the co-efficient of reliability (R) was calculated as an index of reliability which is independent of the population mean value, or the dynamic range of the measurements. R ranges between 0 (for no reliability) to 1(for a perfect reliability). The results indicate that the precision of QUS is dependent on the dynamic range and the instrument. Furthermore, they suggest that while QUS is a useful predictor of fracture risk, at present it has limited clinical value in monitoring short term age-related bone loss of 1-2% per year

Precision Airdrop (Largage de precision)

Science.gov (United States)

2005-12-01

NAVIGATION TO A PRECISION AIRDROP OVERVIEW RTO-AG-300-V24 2 - 9 the point from various compass headings. As the tests are conducted, the resultant...rate. This approach avoids including a magnetic compass for the heading reference, which has difficulties due to local changes in the magnetic field...Scientifica della Difesa ROYAUME-UNI Via XX Settembre 123 Dstl Knowledge Services ESPAGNE 00187 Roma Information Centre, Building 247 SDG TECEN / DGAM

High Precision Measurement of the differential W and Z boson cross-sections

CERN Document Server

Gasnikova, Ksenia; The ATLAS collaboration

2017-01-01

Measurements of the Drell-Yan production of W and Z/gamma bosons at the LHC provide a benchmark of our understanding of perturbative QCD and probe the proton structure in a unique way. The ATLAS collaboration has performed new high precision measurements at center-of-mass energies of 7. The measurements are performed for W+, W- and Z/gamma bosons integrated and as a function of the boson or lepton rapidity and the Z/gamma* mass. Unprecedented precision is reached and strong constraints on Parton Distribution functions, in particular the strange density are found. Z cross sections are also measured at a center-of-mass energies of 8TeV and 13TeV, and cross-section ratios to the top-quark pair production have been derived. This ratio measurement leads to a cancellation of several systematic effects and allows therefore for a high precision comparison to the theory predictions.

Precision luminosity measurement at LHCb with beam-gas imaging

International Nuclear Information System (INIS)

Barschel, Colin

2014-01-01

The luminosity is the physical quantity which relates the cross-section to the production rate in collider experiments. The cross-section being the particle physics observable of interest, a precise determination of the luminosity is required. This work presents the absolute luminosity calibration results performed at the Large Hadron Collider beauty (LHCb) experiment at CERN using a novel method based on beam-gas interactions with data acquired at a center of mass energy √(s)=8 TeV and √(s)=2.76 TeV. Reconstructed beam-gas interaction vertices in LHCb are used to measure the beam profiles, thus making it possible to determine the beams overlap integral. An important element of this work was to install and use a neon gas injection system to increase the beam-gas interaction rate. The precision reached with the beam-gas imaging method relies on the two-dimensional beam shape determination developed in this work. For such precision, the interaction vertex resolution is an important ingredient. Therefore, a new method has been developed using all reconstructed vertices in order to improve the understanding of the vertex resolution. In addition to the overlap integral, the knowledge of the colliding bunch populations is required to measure the luminosity. The determination of the bunch populations relies on LHC instruments to measure the bunch population fractions and the total beam intensity. Studies performed as part of this work resulted in a reduction of the bunch current normalization uncertainty from ±2.7% to ±0.2% and making it possible to achieve precision luminosity measurements at all LHC experiments. Furthermore, information on beam-gas interactions not originating from nominally filled bunches was analyzed to determine the charge fraction not participating in bunch collisions. The knowledge of this fraction is required to correct the total beam intensity. The reference cross-section of pp interactions with at least two tracks in the vertex detector

Precision genome editing

DEFF Research Database (Denmark)

Steentoft, Catharina; Bennett, Eric P; Schjoldager, Katrine Ter-Borch Gram

2014-01-01

Precise and stable gene editing in mammalian cell lines has until recently been hampered by the lack of efficient targeting methods. While different gene silencing strategies have had tremendous impact on many biological fields, they have generally not been applied with wide success in the field...... of glycobiology, primarily due to their low efficiencies, with resultant failure to impose substantial phenotypic consequences upon the final glycosylation products. Here, we review novel nuclease-based precision genome editing techniques enabling efficient and stable gene editing, including gene disruption...... by introducing single or double-stranded breaks at a defined genomic sequence. We here compare and contrast the different techniques and summarize their current applications, highlighting cases from the field of glycobiology as well as pointing to future opportunities. The emerging potential of precision gene...

How genetic modification of roots affects rhizosphere processes and plant performance

NARCIS (Netherlands)

Kabouw, P.; Van Dam, N.M.; Van der Putten, W.H.; Biere, A.

2012-01-01

Genetic modification of plants has become common practice. However, root-specific genetic modifications have only recently been advocated. Here, a review is presented regarding how root-specific modifications can have both plant internal and rhizosphere-mediated effects on aboveground plant

Understanding barriers to the introduction of precision medicines in non-small cell lung cancer: A qualitative interview protocol.

Science.gov (United States)

Wright, Stuart; Daker-White, Gavin; Newman, William; Payne, Katherine

2018-01-01

Background: While precision medicines targeting genetic mutations and alterations in non-small cell lung cancer (NSCLC) have been available since 2010, their adoption into clinical practice has been slow. Evidence suggests that a number of barriers, such as insufficient clinician knowledge, a need for training of test providers, or a lack of specific clinical guidelines, may slow the implementation of precision in general. However, little attention has been given to the barriers to providing precision medicines in NSCLC. The purpose of this protocol is to outline the design for a qualitative interview study to identify the barriers and facilitators to the provision of precision medicines for NSCLC. Methods: This study will use semi-structured interviews with clinicians (n=10), test providers (n=10), and service commissioners (n=10) to identify the perceived barriers and facilitators to providing historical, current, and future precision medicines in NSCLC. Participants will be identified through mailing list advertisements and snowball sampling. Recruitment will continue until data saturation, indicated by no new themes arising from the data. Interviews will be conducted by telephone to facilitate geographical diversity. The qualitative data will be analysed using a framework analysis with themes anticipated to relate to; relevant barriers to providing precision medicines, the impact of different barriers on medicine provision, changes in the ability to provide precision medicines over time, and strategies to facilitate the provision of precision medicines. Ethics: This study has been approved by the University of Manchester Proportionate Review Research Ethics Committee (Reference number: 2017-1885-3619). Written consent will be obtained from all participants. Conclusion: This study is the first to explore the barriers and facilitators to providing precision medicines for NSCLC in the English NHS. The findings will inform strategies to improve the implementation

Sensor fusion for active vibration isolation in precision equipment

NARCIS (Netherlands)

Tjepkema, D.; van Dijk, Johannes; Soemers, Herman

2012-01-01

Sensor fusion is a promising control strategy to improve the performance of active vibration isolation systems that are used in precision equipment. Normally, those vibration isolation systems are only capable of realizing a low transmissibility. Additional objectives are to increase the damping

Understanding and Optimizing Asynchronous Low-Precision Stochastic Gradient Descent

Science.gov (United States)

De Sa, Christopher; Feldman, Matthew; Ré, Christopher; Olukotun, Kunle

2018-01-01

Stochastic gradient descent (SGD) is one of the most popular numerical algorithms used in machine learning and other domains. Since this is likely to continue for the foreseeable future, it is important to study techniques that can make it run fast on parallel hardware. In this paper, we provide the first analysis of a technique called Buckwild! that uses both asynchronous execution and low-precision computation. We introduce the DMGC model, the first conceptualization of the parameter space that exists when implementing low-precision SGD, and show that it provides a way to both classify these algorithms and model their performance. We leverage this insight to propose and analyze techniques to improve the speed of low-precision SGD. First, we propose software optimizations that can increase throughput on existing CPUs by up to 11×. Second, we propose architectural changes, including a new cache technique we call an obstinate cache, that increase throughput beyond the limits of current-generation hardware. We also implement and analyze low-precision SGD on the FPGA, which is a promising alternative to the CPU for future SGD systems. PMID:29391770

Precision Cosmology

Science.gov (United States)

Jones, Bernard J. T.

2017-04-01

Preface; Notation and conventions; Part I. 100 Years of Cosmology: 1. Emerging cosmology; 2. The cosmic expansion; 3. The cosmic microwave background; 4. Recent cosmology; Part II. Newtonian Cosmology: 5. Newtonian cosmology; 6. Dark energy cosmological models; 7. The early universe; 8. The inhomogeneous universe; 9. The inflationary universe; Part III. Relativistic Cosmology: 10. Minkowski space; 11. The energy momentum tensor; 12. General relativity; 13. Space-time geometry and calculus; 14. The Einstein field equations; 15. Solutions of the Einstein equations; 16. The Robertson-Walker solution; 17. Congruences, curvature and Raychaudhuri; 18. Observing and measuring the universe; Part IV. The Physics of Matter and Radiation: 19. Physics of the CMB radiation; 20. Recombination of the primeval plasma; 21. CMB polarisation; 22. CMB anisotropy; Part V. Precision Tools for Precision Cosmology: 23. Likelihood; 24. Frequentist hypothesis testing; 25. Statistical inference: Bayesian; 26. CMB data processing; 27. Parametrising the universe; 28. Precision cosmology; 29. Epilogue; Appendix A. SI, CGS and Planck units; Appendix B. Magnitudes and distances; Appendix C. Representing vectors and tensors; Appendix D. The electromagnetic field; Appendix E. Statistical distributions; Appendix F. Functions on a sphere; Appendix G. Acknowledgements; References; Index.

Performance of genetic risk factors in prediction of trichloroethylene induced hypersensitivity syndrome.

Science.gov (United States)

Dai, Yufei; Chen, Ying; Huang, Hanlin; Zhou, Wei; Niu, Yong; Zhang, Mingrong; Bin, Ping; Dong, Haiyan; Jia, Qiang; Huang, Jianxun; Yi, Juan; Liao, Qijun; Li, Haishan; Teng, Yanxia; Zang, Dan; Zhai, Qingfeng; Duan, Huawei; Shen, Juan; He, Jiaxi; Meng, Tao; Sha, Yan; Shen, Meili; Ye, Meng; Jia, Xiaowei; Xiang, Yingping; Huang, Huiping; Wu, Qifeng; Shi, Mingming; Huang, Xianqing; Yang, Huanming; Luo, Longhai; Li, Sai; Li, Lin; Zhao, Jinyang; Li, Laiyu; Wang, Jun; Zheng, Yuxin

2015-07-20

Trichloroethylene induced hypersensitivity syndrome is dose-independent and potentially life threatening disease, which has become one of the serious occupational health issues and requires intensive treatment. To discover the genetic risk factors and evaluate the performance of risk prediction model for the disease, we conducted genomewide association study and replication study with total of 174 cases and 1761 trichloroethylene-tolerant controls. Fifty seven SNPs that exceeded the threshold for genome-wide significance (P < 5 × 10(-8)) were screened to relate with the disease, among which two independent SNPs were identified, that is rs2857281 at MICA (odds ratio, 11.92; P meta = 1.33 × 10(-37)) and rs2523557 between HLA-B and MICA (odds ratio, 7.33; P meta = 8.79 × 10(-35)). The genetic risk score with these two SNPs explains at least 20.9% of the disease variance and up to 32.5-fold variation in inter-individual risk. Combining of two SNPs as predictors for the disease would have accuracy of 80.73%, the area under receiver operator characteristic curves (AUC) scores was 0.82 with sensitivity of 74% and specificity of 85%, which was considered to have excellent discrimination for the disease, and could be considered for translational application for screening employees before exposure.

A Fast GPU-accelerated Mixed-precision Strategy for Fully NonlinearWater Wave Computations

DEFF Research Database (Denmark)

Glimberg, Stefan Lemvig; Engsig-Karup, Allan Peter; Madsen, Morten G.

2011-01-01

We present performance results of a mixed-precision strategy developed to improve a recently developed massively parallel GPU-accelerated tool for fast and scalable simulation of unsteady fully nonlinear free surface water waves over uneven depths (Engsig-Karup et.al. 2011). The underlying wave......-preconditioned defect correction method. The improved strategy improves the performance by exploiting architectural features of modern GPUs for mixed precision computations and is tested in a recently developed generic library for fast prototyping of PDE solvers. The new wave tool is applicable to solve and analyze...

Rapid detection of genetic modification for GMO monitoring in agriculture

Directory of Open Access Journals (Sweden)

Petrović Sofija

2015-01-01

Full Text Available Transgenic technology has expanded the ways of new genetic variability creation. Genetically modified organisms (GMOs are organisms which total genome is altered in a way that could not happen in nature. GM crops recorded a steady increase in its share in agricultural production. However, for the most part, GMO in agriculture has been limited to two cultivars - soy and corn, and the two genetic modifications, the total herbicide resistance and pest of the Lepidoptera genus. In order to monitor cultivation and trade of GMOs, tests of different precision are used, qualitatively and/or quantitatively determining the presence of genetic modification. Tests for the rapid determination of the presence of GM are suitable, since they can be implemented quickly and accurately, in terms of declared sensitivity, outside or in the laboratory. The example of the use of rapid tests demonstrates their value in use for rapid and efficient monitoring.

High-Precision Half-Life Measurement for the Superallowed β+ Emitter Alm26

Science.gov (United States)

Finlay, P.; Ettenauer, S.; Ball, G. C.; Leslie, J. R.; Svensson, C. E.; Andreoiu, C.; Austin, R. A. E.; Bandyopadhyay, D.; Cross, D. S.; Demand, G.; Djongolov, M.; Garrett, P. E.; Green, K. L.; Grinyer, G. F.; Hackman, G.; Leach, K. G.; Pearson, C. J.; Phillips, A. A.; Sumithrarachchi, C. S.; Triambak, S.; Williams, S. J.

2011-01-01

A high-precision half-life measurement for the superallowed β+ emitter Alm26 was performed at the TRIUMF-ISAC radioactive ion beam facility yielding T1/2=6346.54±0.46stat±0.60systms, consistent with, but 2.5 times more precise than, the previous world average. The Alm26 half-life and ft value, 3037.53(61) s, are now the most precisely determined for any superallowed β decay. Combined with recent theoretical corrections for isospin-symmetry-breaking and radiative effects, the corrected Ft value for Alm26, 3073.0(12) s, sets a new benchmark for the high-precision superallowed Fermi β-decay studies used to test the conserved vector current hypothesis and determine the Vud element of the Cabibbo-Kobayashi-Maskawa quark mixing matrix.

Normative framework for the protection against genetic discrimination in Serbia

Directory of Open Access Journals (Sweden)

Petrušić Nevena

2015-01-01

Full Text Available The paper is devoted to a normative framework of protection against genetic discrimination in the legal system of the Republic of Serbia, contained in the Law on Patients Rights, as of 2013 and in the Law on Prevention and diagnostics of genetic disorders, genetically conditioned anomalies and rare diseases, as of 2015. The analysis has shown that the rules on protection of the genetic data and the use of genetic samples, which are crucially important for prevention of genetic discrimination, have not been harmonized with contemporary ethical and legal standards. The contents of the Article 9 of the Law on Prevention and diagnostics of genetic disorders, genetically conditioned anomalies and rare diseases reduces the scope and level of protection against genetic discrimination in relation to the protection, given by the General Antidiscrimination Law. The legal definition of the genetic discrimination notion is not comprehensive, clear or precise, either, so it causes confusions, which, additionally, make the application of anti-discrimination regulations more difficult. Having in mind the harmful effects caused by the genetic discrimination, there is a need to eliminate the observed normative failures in due time and enable people to enjoy the benefits, provided by genetic investigations, without the fear from discrimination. In order to prevent the genetic discrimination, it is necessary to work on both information providing and raising awareness about the genetic privacy and the genetic discrimination problem, but also on promotion of the social justice and development of sensibility for bioethical challenges brought by the new age.

Assessing the Performance of GPS Precise Point Positioning Under Different Geomagnetic Storm Conditions during Solar Cycle 24

Directory of Open Access Journals (Sweden)

Xiaomin Luo

2018-06-01

Full Text Available The geomagnetic storm, which is an abnormal space weather phenomenon, can sometimes severely affect GPS signal propagation, thereby impacting the performance of GPS precise point positioning (PPP. However, the investigation of GPS PPP accuracy over the global scale under different geomagnetic storm conditions is very limited. This paper for the first time presents the performance of GPS dual-frequency (DF and single-frequency (SF PPP under moderate, intense, and super storms conditions during solar cycle 24 using a large data set collected from about 500 international GNSS services (IGS stations. The global root mean square (RMS maps of GPS PPP results show that stations with degraded performance are mainly distributed at high-latitude, and the degradation level generally depends on the storm intensity. The three-dimensional (3D RMS of GPS DF PPP for high-latitude during moderate, intense, and super storms are 0.393 m, 0.680 m and 1.051 m, respectively, with respect to only 0.163 m on quiet day. RMS errors of mid- and low-latitudes show less dependence on the storm intensities, with values less than 0.320 m, compared to 0.153 m on quiet day. Compared with DF PPP, the performance of GPS SF PPP is inferior regardless of quiet or disturbed conditions. The degraded performance of GPS positioning during geomagnetic storms is attributed to the increased ionospheric disturbances, which have been confirmed by our global rate of TEC index (ROTI maps. Ionospheric disturbances not only lead to the deteriorated ionospheric correction but also to the frequent cycle-slip occurrence. Statistical results show that, compared with that on quiet day, the increased cycle-slip occurrence are 13.04%, 56.52%, and 69.57% under moderate, intense, and super storms conditions, respectively.

Precise Thrust Actuation by a Micro RF Ion Engine, Phase II

Data.gov (United States)

National Aeronautics and Space Administration — The NASA Science Mission Directorate has plans to launch high-performance advanced space telescopes for astrophysics missions that require precision formation flying...

Computer simulation f the genetic controller for the EB flue gas treatment process

International Nuclear Information System (INIS)

Moroz, Z.; Bouzyk, J.; Sowinski, M.; Chmielewski, A.G.

2001-01-01

The use of computer genetic algorithm (GA) for driving a controller device for the industrial flue gas purification systems employing the electron beam irradiation, has been studied. As the mathematical model of the installation the properly trained artificial neural net (ANN) was used. Various cost functions and optimising strategies of the genetic code were tested. These computer simulations proved, that ANN + GA controller can be sufficiently precise and fast to be applied in real installations. (author)

The landscape of precision cancer medicine clinical trials in the United States.

Science.gov (United States)

Roper, Nitin; Stensland, Kristian D; Hendricks, Ryan; Galsky, Matthew D

2015-05-01

Advances in tumor biology and multiplex genomic analysis have ushered in the era of precision cancer medicine. Little is currently known, however, about the landscape of prospective "precision cancer medicine" clinical trials in the U.S. We identified all adult interventional cancer trials registered on ClinicalTrials.gov between September 2005 and May 2013. Trials were classified as "precision cancer medicine" if a genomic alteration in a predefined set of 88 genes was required for enrollment. Baseline characteristics were ascertained for each trial. Of the initial 18,797 trials identified, 9094 (48%) were eligible for inclusion: 684 (8%) were classified as precision cancer medicine trials and 8410 (92%) were non-precision cancer medicine trials. Compared with non-precision cancer medicine trials, precision cancer medicine trials were significantly more likely to be phase II [RR 1.19 (1.10-1.29), pPrecision medicine trials required 38 unique genomic alterations for enrollment. The proportion of precision cancer medicine trials compared to the total number of trials increased from 3% in 2006 to 16% in 2013. The proportion of adult cancer clinical trials in the U.S. requiring a genomic alteration for enrollment has increased substantially over the past several years. However, such trials still represent a small minority of studies performed within the cancer clinical trials enterprise and include a small subset of putatively "actionable" alterations. Copyright © 2015 Elsevier Ltd. All rights reserved.

Genetic Basis of Positive and Negative Symptom Domains in Schizophrenia.

Science.gov (United States)

Xavier, Rose Mary; Vorderstrasse, Allison

2017-10-01

Schizophrenia is a highly heritable disorder, the genetic etiology of which has been well established. Yet despite significant advances in genetics research, the pathophysiological mechanisms of this disorder largely remain unknown. This gap has been attributed to the complexity of the polygenic disorder, which has a heterogeneous clinical profile. Examining the genetic basis of schizophrenia subphenotypes, such as those based on particular symptoms, is thus a useful strategy for decoding the underlying mechanisms. This review of literature examines the recent advances (from 2011) in genetic exploration of positive and negative symptoms in schizophrenia. We searched electronic databases PubMed, Web of Science, and Cumulative Index to Nursing and Allied Health Literature using key words schizophrenia, symptoms, positive symptoms, negative symptoms, cognition, genetics, genes, genetic predisposition, and genotype in various combinations. We identified 115 articles, which are included in the review. Evidence from these studies, most of which are genetic association studies, identifies shared and unique gene associations for the symptom domains. Genes associated with neurotransmitter systems and neuronal development/maintenance primarily constitute the shared associations. Needed are studies that examine the genetic basis of specific symptoms within the broader domains in addition to functional mechanisms. Such investigations are critical to developing precision treatment and care for individuals afflicted with schizophrenia.

Precision experiments in electroweak interactions

International Nuclear Information System (INIS)

Swartz, M.L.

1990-03-01

The electroweak theory of Glashow, Weinberg, and Salam (GWS) has become one of the twin pillars upon which our understanding of all particle physics phenomena rests. It is a brilliant achievement that qualitatively and quantitatively describes all of the vast quantity of experimental data that have been accumulated over some forty years. Note that the word quantitatively must be qualified. The low energy limiting cases of the GWS theory, Quantum Electrodynamics and the V-A Theory of Weak Interactions, have withstood rigorous testing. The high energy synthesis of these ideas, the GWS theory, has not yet been subjected to comparably precise scrutiny. The recent operation of a new generation of proton-antiproton (p bar p) and electron-positron (e + e - ) colliders has made it possible to produce and study large samples of the electroweak gauge bosons W ± and Z 0 . We expect that these facilities will enable very precise tests of the GWS theory to be performed in the near future. In keeping with the theme of this Institute, Physics at the 100 GeV Mass Scale, these lectures will explore the current status and the near-future prospects of these experiments

Applications of Genetic Programming

DEFF Research Database (Denmark)

Gaunholt, Hans; Toma, Laura

1996-01-01

In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc.......In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc....

High precision capacitive beam phase probe for KHIMA project

Energy Technology Data Exchange (ETDEWEB)

Hwang, Ji-Gwang, E-mail: windy206@hanmail.net [Korea Institute of Radiological and Medical Sciences, 215–4, Gongneung-dong, Nowon-t, Seoul 139–706 (Korea, Republic of); Yang, Tae-Keun [Korea Institute of Radiological and Medical Sciences, 215–4, Gongneung-dong, Nowon-t, Seoul 139–706 (Korea, Republic of); Forck, Peter [GSI Helmholtz Centre for Ion Research, Darmstadt 64291, German (Germany)

2016-11-21

In the medium energy beam transport (MEBT) line of KHIMA project, a high precision beam phase probe monitor is required for a precise tuning of RF phase and amplitude of Radio Frequency Quadrupole (RFQ) accelerator and IH-DTL linac. It is also used for measuring a kinetic energy of ion beam by time-of-flight (TOF) method using two phase probes. The capacitive beam phase probe has been developed. The electromagnetic design of the high precision phase probe was performed to satisfy the phase resolution of 1° (@200 MHz). It was confirmed by the test result using a wire test bench. The measured phase accuracy of the fabricated phase probe is 1.19 ps. The pre-amplifier electronics with the 0.125 ∼ 1.61 GHz broad-band was designed and fabricated for amplifying the signal strength. The results of RF frequency and beam energy measurement using a proton beam from the cyclotron in KIRAMS is presented.

Precision luminosity measurement at LHCb with beam-gas imaging

CERN Document Server

Barschel, Colin

The luminosity is the physical quantity which relates the cross-section to the production rate in collider experiments. The cross-section being the particle physics observable of interest, a precise determination of the luminosity is required. This work presents the absolute luminosity calibration results performed at the Large Hadron Collider beauty (LHCb) experiment at CERN using a novel method based on beam-gas interactions with data acquired at a center of mass energy $\\sqrt{s}=8$ TeV and $\\sqrt{s}=2.76$ TeV. Reconstructed beam-gas interaction vertices in LHCb are used to measure the beam profiles, thus making it possible to determine the beams overlap integral. An important element of this work was to install and use a neon gas injection system to increase the beam-gas interaction rate. The precision reached with the beam-gas imaging method relies on the two-dimensional beam shape determination developed in this work. For such precision, the interaction vertex resolution is an important ingredient. There...

The current status and problems confronted in delivering precision medicine in Japan and Europe.

Science.gov (United States)

Bando, Hideaki

Precision medicine has been defined as "a predictive, preventive, personalized, and participatory health care service delivery model." Today, developments in next-generation sequencing and information technology have made precision medicine possible, with massive amounts of genetic, "omics," clinical, environmental, and lifestyle data now available. Unfortunately, differences in governmental support and health care regulations have resulted in heterogeneous progress among countries. In Japan, for example, precision cancer screening and treatments are increasingly being promoted, with collaboration among research, governmental, and pharmaceutical agencies taking place in the nationwide SCRUM-Japan cancer genome screening project. The missions of SCRUM-Japan are to deliver the most appropriate therapeutic agents to the most suitable patients, and to play key roles in the development of multiplex diagnostic products and new indications for targeted therapy. Starting in February 2015 and ending in March 2017, the aim is to enroll 4750 patients with cancer (2350 patients with lung cancer and 2400 patients with gastrointestinal tract cancer). Compared with other developed countries, investments in scientific innovation for biomedical and omics research are matched or even surpassed in Europe, but regulatory differences in each countries are a major hurdle to rapid implementation. Although market approval for pharmaceuticals is centralized through the European Medicines Agency, access to health care is heterogeneously regulated at national levels, which undermines the consistency, comparability, and quality of precision medicine for cancer patients in Europe. In this review, we focus on the current progress of precision medicine in Japan and Europe, and clarify the differences in progress and the hurdles faced moving forward. Copyright © 2017 Elsevier Inc. All rights reserved.

Feline genetics: clinical applications and genetic testing.

Science.gov (United States)

Lyons, Leslie A

2010-11-01

DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

Genetic differentiation between the ant Myrmica rubra and its microgynous social parasite

DEFF Research Database (Denmark)

Vepsäläinen, K.; Ebsen, J. R.; Savolainen, R.

2009-01-01

Hymenopteran inquiline species have been proposed to originate by sympatric speciation through intraspecific social parasitism. One such parasite, Myrmica microrubra, was recently synonymized with its Myrmica rubra host, because comparisons across Europe indicated insufficient genetic differentia......Hymenopteran inquiline species have been proposed to originate by sympatric speciation through intraspecific social parasitism. One such parasite, Myrmica microrubra, was recently synonymized with its Myrmica rubra host, because comparisons across Europe indicated insufficient genetic...... differentiation. Here, we use microsatellite markers to study genetic differentiation more precisely in a sample of Finnish M. rubra and its inquilines collected at two localities, supplemented with mitochondrial DNA sequences. The parasite had much lower genetic variation than the host at three of the four loci...

Acquisition of Genetic Aberrations by Activation-Induced Cytidine Deaminase (AID) during Inflammation-Associated Carcinogenesis

International Nuclear Information System (INIS)

Takai, Atsushi; Marusawa, Hiroyuki; Chiba, Tsutomu

2011-01-01

Genetic abnormalities such as nucleotide alterations and chromosomal disorders that accumulate in various tumor-related genes have an important role in cancer development. The precise mechanism of the acquisition of genetic aberrations, however, remains unclear. Activation-induced cytidine deaminase (AID), a nucleotide editing enzyme, is essential for the diversification of antibody production. AID is expressed only in activated B lymphocytes under physiologic conditions and induces somatic hypermutation and class switch recombination in immunoglobulin genes. Inflammation leads to aberrant AID expression in various gastrointestinal organs and increased AID expression contributes to cancer development by inducing genetic alterations in epithelial cells. Studies of how AID induces genetic disorders are expected to elucidate the mechanism of inflammation-associated carcinogenesis

The impact of feeding growing-finishing pigs with daily tailored diets using precision feeding techniques on animal performance, nutrient utilization, and body and carcass composition.

Science.gov (United States)

Andretta, I; Pomar, C; Rivest, J; Pomar, J; Lovatto, P A; Radünz Neto, J

2014-09-01

The impact of moving from conventional to precision feeding systems in growing-finishing pig operations on animal performance, nutrient utilization, and body and carcass composition was studied. Fifteen animals per treatment for a total of 60 pigs of 41.2 (SE = 0.5) kg of BW were used in a performance trial (84 d) with 4 treatments: a 3-phase (3P) feeding program obtained by blending fixed proportions of feeds A (high nutrient density) and B (low nutrient density); a 3-phase commercial (COM) feeding program; and 2 daily-phase feeding programs in which the blended proportions of feeds A and B were adjusted daily to meet the estimated nutritional requirements of the group (multiphase-group feeding, MPG) or of each pig individually (multiphase-individual feeding, MPI). Daily feed intake was recorded each day and pigs were weighed weekly during the trial. Body composition was assessed at the beginning of the trial and every 28 d by dual-energy X-ray densitometry. Nitrogen and phosphorus excretion was estimated as the difference between retention and intake. Organ, carcass, and primal cut measurements were taken after slaughter. The COM feeding program reduced (P carcass, and primal cut weights did not differ among treatments. Feeding growing-finishing pigs with daily tailored diets using precision feeding techniques is an effective approach to reduce nutrient excretion without compromising pig performance or carcass composition.

Conformal Interpolating Algorithm Based on Cubic NURBS in Aspheric Ultra-Precision Machining

International Nuclear Information System (INIS)

Li, C G; Zhang, Q R; Cao, C G; Zhao, S L

2006-01-01

Numeric control machining and on-line compensation for aspheric surface are key techniques in ultra-precision machining. In this paper, conformal cubic NURBS interpolating curve is applied to fit the character curve of aspheric surface. Its algorithm and process are also proposed and imitated by Matlab7.0 software. To evaluate the performance of the conformal cubic NURBS interpolation, we compare it with the linear interpolations. The result verifies this method can ensure smoothness of interpolating spline curve and preserve original shape characters. The surface quality interpolated by cubic NURBS is higher than by line. The algorithm is benefit to increasing the surface form precision of workpieces in ultra-precision machining

Laser precision microfabrication

CERN Document Server

Sugioka, Koji; Pique, Alberto

2010-01-01

Miniaturization and high precision are rapidly becoming a requirement for many industrial processes and products. As a result, there is greater interest in the use of laser microfabrication technology to achieve these goals. This book composed of 16 chapters covers all the topics of laser precision processing from fundamental aspects to industrial applications to both inorganic and biological materials. It reviews the sate of the art of research and technological development in the area of laser processing.

Hydrogels for precision meniscus tissue engineering: a comprehensive review.

Science.gov (United States)

Rey-Rico, Ana; Cucchiarini, Magali; Madry, Henning

The meniscus plays a pivotal role to preserve the knee joint homeostasis. Lesions to the meniscus are frequent, have a reduced ability to heal, and may induce tibiofemoral osteoarthritis. Current reconstructive therapeutic options mainly focus on the treatment of lesions in the peripheral vascularized region. In contrast, few approaches are capable of stimulating repair of damaged meniscal tissue in the central, avascular portion. Tissue engineering approaches are of high interest to repair or replace damaged meniscus tissue in this area. Hydrogel-based biomaterials are of special interest for meniscus repair as its inner part contains relatively high proportions of proteoglycans which are responsible for the viscoelastic compressive properties and hydration grade. Hydrogels exhibiting high water content and providing a specific three-dimensional (3D) microenvironment may be engineered to precisely resemble this topographical composition of the meniscal tissue. Different polymers of both natural and synthetic origins have been manipulated to produce hydrogels hosting relevant cell populations for meniscus regeneration and provide platforms for meniscus tissue replacement. So far, these compounds have been employed to design controlled delivery systems of bioactive molecules involved in meniscal reparative processes or to host genetically modified cells as a means to enhance meniscus repair. This review describes the most recent advances on the use of hydrogels as platforms for precision meniscus tissue engineering.

Precision digital control systems

Science.gov (United States)

Vyskub, V. G.; Rozov, B. S.; Savelev, V. I.

This book is concerned with the characteristics of digital control systems of great accuracy. A classification of such systems is considered along with aspects of stabilization, programmable control applications, digital tracking systems and servomechanisms, and precision systems for the control of a scanning laser beam. Other topics explored are related to systems of proportional control, linear devices and methods for increasing precision, approaches for further decreasing the response time in the case of high-speed operation, possibilities for the implementation of a logical control law, and methods for the study of precision digital control systems. A description is presented of precision automatic control systems which make use of electronic computers, taking into account the existing possibilities for an employment of computers in automatic control systems, approaches and studies required for including a computer in such control systems, and an analysis of the structure of automatic control systems with computers. Attention is also given to functional blocks in the considered systems.

Feasibility study of performing high precision gamma spectroscopy of {lambda}{lambda} hypernuclei in the anti PANDA experiment

Energy Technology Data Exchange (ETDEWEB)

Sanchez-Lorente, Alicia

2010-09-30

Hypernuclear research will be one of the main topics addressed by the anti PANDA experiment at the planned Facility for Antiproton and Ion Research anti FAIR. Thanks to the use of stored anti p beams, copious production of double {lambda} hypernuclei is expected at the anti PANDA experiment, which will enable high precision {gamma} spectroscopy of such nuclei for the first time. At anti PANDA excited states of {xi}{sup -} hypernuclei will be used as a basis for the formation of double {lambda} hypernuclei. For their detection, a devoted hypernuclear detector setup is planned. This setup consists of a primary nuclear target for the production of {xi}{sup -}+ anti {xi} pairs, a secondary active target for the hypernuclei formation and the identification of associated decay products and a germanium array detector to perform {gamma} spectroscopy. In the present work, the feasibility of performing high precision {gamma} spectroscopy of double {lambda} hypernuclei at the anti PANDA experiment has been studied by means of a Monte Carlo simulation. For this issue, the designing and simulation of the devoted detector setup as well as of the mechanism to produce double {lambda} hypernuclei have been optimized together with the performance of the whole system. In addition, the production yields of double hypernuclei in excitedparticle stable states have been evaluated within a statistical decay model. A strategy for the unique assignment of various newly observed {gamma}-transitions to specific double hypernuclei has been successfully implemented by combining the predicted energy spectra of each target with the measurement of two pion momenta from the subsequent weak decays of a double hypernucleus. Indeed, based on these Monte Carlo simulation, the analysis of the statistical decay of {sup 13}{sub {lambda}}{sub {lambda}}B has been performed. As result, three {gamma}-transitions associated to the double hypernuclei {sup 11}{sub {lambda}}{sub {lambda}}Be and to the single

Application of high precision temperature control technology in infrared testing

Science.gov (United States)

Cao, Haiyuan; Cheng, Yong; Zhu, Mengzhen; Chu, Hua; Li, Wei

2017-11-01

In allusion to the demand of infrared system test, the principle of Infrared target simulator and the function of the temperature control are presented. The key technology of High precision temperature control is discussed, which include temperature gathering, PID control and power drive. The design scheme of temperature gathering is put forward. In order to reduce the measure error, discontinuously current and four-wire connection for the platinum thermal resistance are adopted. A 24-bits AD chip is used to improve the acquisition precision. Fuzzy PID controller is designed because of the large time constant and continuous disturbance of the environment temperature, which result in little overshoot, rapid response, high steady-state accuracy. Double power operational amplifiers are used to drive the TEC. Experiments show that the key performances such as temperature control precision and response speed meet the requirements.

Physics-Based Image Segmentation Using First Order Statistical Properties and Genetic Algorithm for Inductive Thermography Imaging.

Science.gov (United States)

Gao, Bin; Li, Xiaoqing; Woo, Wai Lok; Tian, Gui Yun

2018-05-01

Thermographic inspection has been widely applied to non-destructive testing and evaluation with the capabilities of rapid, contactless, and large surface area detection. Image segmentation is considered essential for identifying and sizing defects. To attain a high-level performance, specific physics-based models that describe defects generation and enable the precise extraction of target region are of crucial importance. In this paper, an effective genetic first-order statistical image segmentation algorithm is proposed for quantitative crack detection. The proposed method automatically extracts valuable spatial-temporal patterns from unsupervised feature extraction algorithm and avoids a range of issues associated with human intervention in laborious manual selection of specific thermal video frames for processing. An internal genetic functionality is built into the proposed algorithm to automatically control the segmentation threshold to render enhanced accuracy in sizing the cracks. Eddy current pulsed thermography will be implemented as a platform to demonstrate surface crack detection. Experimental tests and comparisons have been conducted to verify the efficacy of the proposed method. In addition, a global quantitative assessment index F-score has been adopted to objectively evaluate the performance of different segmentation algorithms.

Electroweak Precision Measurements with the ATLAS Detector

CERN Document Server

Linck, Rebecca Anne; The ATLAS collaboration

2018-01-01

As part of its ongoing exploration into the nature of the particles produced in high energy proton-proton collisions, the ATLAS detector has been used to perform a number of new precision electroweak measurements. In this talk the recent measurements of the W-boson mass, the Drell-Yan triple-differential cross-section and the polarisation of tau leptons in Z/γ* → ττ decays will be discussed.

Expertise for upright faces improves the precision but not the capacity of visual working memory.

Science.gov (United States)

Lorenc, Elizabeth S; Pratte, Michael S; Angeloni, Christopher F; Tong, Frank

2014-10-01

Considerable research has focused on how basic visual features are maintained in working memory, but little is currently known about the precision or capacity of visual working memory for complex objects. How precisely can an object be remembered, and to what extent might familiarity or perceptual expertise contribute to working memory performance? To address these questions, we developed a set of computer-generated face stimuli that varied continuously along the dimensions of age and gender, and we probed participants' memories using a method-of-adjustment reporting procedure. This paradigm allowed us to separately estimate the precision and capacity of working memory for individual faces, on the basis of the assumptions of a discrete capacity model, and to assess the impact of face inversion on memory performance. We found that observers could maintain up to four to five items on average, with equally good memory capacity for upright and upside-down faces. In contrast, memory precision was significantly impaired by face inversion at every set size tested. Our results demonstrate that the precision of visual working memory for a complex stimulus is not strictly fixed but, instead, can be modified by learning and experience. We find that perceptual expertise for upright faces leads to significant improvements in visual precision, without modifying the capacity of working memory.

Acute myeloid leukemia in the era of precision medicine: recent advances in diagnostic classification and risk stratification.

Science.gov (United States)

Kansal, Rina

2016-03-01

Acute myeloid leukemia (AML) is a genetically heterogeneous myeloid malignancy that occurs more commonly in adults, and has an increasing incidence, most likely due to increasing age. Precise diagnostic classification of AML requires clinical and pathologic information, the latter including morphologic, immunophenotypic, cytogenetic and molecular genetic analysis. Risk stratification in AML requires cytogenetics evaluation as the most important predictor, with genetic mutations providing additional necessary information. AML with normal cytogenetics comprises about 40%-50% of all AML, and has been intensively investigated. The currently used 2008 World Health Organization classification of hematopoietic neoplasms has been proposed to be updated in 2016, also to include an update on the classification of AML, due to the continuously increasing application of genomic techniques that have led to major advances in our knowledge of the pathogenesis of AML. The purpose of this review is to describe some of these recent major advances in the diagnostic classification and risk stratification of AML.

Acute myeloid leukemia in the era of precision medicine: recent advances in diagnostic classification and risk stratification

International Nuclear Information System (INIS)

Kansal, Rina

2016-01-01

Acute myeloid leukemia (AML) is a genetically heterogeneous myeloid malignancy that occurs more commonly in adults, and has an increasing incidence, most likely due to increasing age. Precise diagnostic classification of AML requires clinical and pathologic information, the latter including morphologic, immunophenotypic, cytogenetic and molecular genetic analysis. Risk stratification in AML requires cytogenetics evaluation as the most important predictor, with genetic mutations providing additional necessary information. AML with normal cytogenetics comprises about 40%-50% of all AML, and has been intensively investigated. The currently used 2008 World Health Organization classification of hematopoietic neoplasms has been proposed to be updated in 2016, also to include an update on the classification of AML, due to the continuously increasing application of genomic techniques that have led to major advances in our knowledge of the pathogenesis of AML. The purpose of this review is to describe some of these recent major advances in the diagnostic classification and risk stratification of AML

The Influence of Big (Clinical) Data and Genomics on Precision Medicine and Drug Development.

Science.gov (United States)

Denny, Joshua C; Van Driest, Sara L; Wei, Wei-Qi; Roden, Dan M

2018-03-01

Drug development continues to be costly and slow, with medications failing due to lack of efficacy or presence of toxicity. The promise of pharmacogenomic discovery includes tailoring therapeutics based on an individual's genetic makeup, rational drug development, and repurposing medications. Rapid growth of large research cohorts, linked to electronic health record (EHR) data, fuels discovery of new genetic variants predicting drug action, supports Mendelian randomization experiments to show drug efficacy, and suggests new indications for existing medications. New biomedical informatics and machine-learning approaches advance the ability to interpret clinical information, enabling identification of complex phenotypes and subpopulations of patients. We review the recent history of use of "big data" from EHR-based cohorts and biobanks supporting these activities. Future studies using EHR data, other information sources, and new methods will promote a foundation for discovery to more rapidly advance precision medicine. © 2017 American Society for Clinical Pharmacology and Therapeutics.

Precision Tiltmeter as a Reference for Slope MeasuringInstruments

Energy Technology Data Exchange (ETDEWEB)

Kirschman, Jonathan L.; Domning, Edward E.; Morrison, Gregory Y.; Smith, Brian V.; Yashchuk, Valeriy V.

2007-08-01

The next generation of synchrotrons and free electron lasers require extremely high-performance x-ray optical systems for proper focusing. The necessary optics cannot be fabricated without the use of precise optical metrology instrumentation. In particular, the Long Trace Profiler (LTP) based on the pencil-beam interferometer is a valuable tool for low-spatial-frequency slope measurement with x-ray optics. The limitations of such a device are set by the amount of systematic errors and noise. A significant improvement of LTP performance was the addition of an optical reference channel, which allowed to partially account for systematic errors associated with wiggling and wobbling of the LTP carriage. However, the optical reference is affected by changing optical path length, non-homogeneous optics, and air turbulence. In the present work, we experimentally investigate the questions related to the use of a precision tiltmeter as a reference channel. Dependence of the tiltmeter performance on horizontal acceleration, temperature drift, motion regime, and kinematical scheme of the translation stage has been investigated. It is shown that at an appropriate experimental arrangement, the tiltmeter provides a slope reference for the LTP system with accuracy on the level of 0.1 {micro}rad (rms).

Precision Tiltmeter as a Reference for Slope Measuring Instruments

International Nuclear Information System (INIS)

Kirschman, Jonathan L.; Domning, Edward E.; Morrison, Gregory Y.; Smith, Brian V.; Yashchuk, Valeriy V.

2007-01-01

The next generation of synchrotrons and free electron lasers require extremely high-performance x-ray optical systems for proper focusing. The necessary optics cannot be fabricated without the use of precise optical metrology instrumentation. In particular, the Long Trace Profiler (LTP) based on the pencil-beam interferometer is a valuable tool for low-spatial-frequency slope measurement with x-ray optics. The limitations of such a device are set by the amount of systematic errors and noise. A significant improvement of LTP performance was the addition of an optical reference channel, which allowed to partially account for systematic errors associated with wiggling and wobbling of the LTP carriage. However, the optical reference is affected by changing optical path length, non-homogeneous optics, and air turbulence. In the present work, we experimentally investigate the questions related to the use of a precision tiltmeter as a reference channel. Dependence of the tiltmeter performance on horizontal acceleration, temperature drift, motion regime, and kinematical scheme of the translation stage has been investigated. It is shown that at an appropriate experimental arrangement, the tiltmeter provides a slope reference for the LTP system with accuracy on the level of 0.1 (micro)rad (rms)

The geometry of population genetics

CERN Document Server

Akin, Ethan

1979-01-01

The differential equations which model the action of selection and recombination are nonlinear equations which are impossible to It is even difficult to describe in general the solve explicitly. Recently, Shahshahani began using qualitative behavior of solutions. differential geometry to study these equations [28]. with this mono­ graph I hope to show that his ideas illuminate many aspects of pop­ ulation genetics. Among these are his proof and clarification of Fisher's Fundamental Theorem of Natural Selection and Kimura's Maximum Principle and also the effect of recombination on entropy. We also discover the relationship between two classic measures of 2 genetic distance: the x measure and the arc-cosine measure. There are two large applications. The first is a precise definition of the biological concept of degree of epistasis which applies to general (i.e. frequency dependent) forms of selection. The second is the unexpected appearance of cycling. We show that cycles can occur in the two-locus-two-allele...

Accuracy of 3D white light scanning of abutment teeth impressions: evaluation of trueness and precision.

Science.gov (United States)

Jeon, Jin-Hun; Kim, Hae-Young; Kim, Ji-Hwan; Kim, Woong-Chul

2014-12-01

This study aimed to evaluate the accuracy of digitizing dental impressions of abutment teeth using a white light scanner and to compare the findings among teeth types. To assess precision, impressions of the canine, premolar, and molar prepared to receive all-ceramic crowns were repeatedly scanned to obtain five sets of 3-D data (STL files). Point clouds were compared and error sizes were measured (n=10 per type). Next, to evaluate trueness, impressions of teeth were rotated by 10°-20° and scanned. The obtained data were compared with the first set of data for precision assessment, and the error sizes were measured (n=5 per type). The Kruskal-Wallis test was performed to evaluate precision and trueness among three teeth types, and post-hoc comparisons were performed using the Mann-Whitney U test with Bonferroni correction (α=.05). Precision discrepancies for the canine, premolar, and molar were 3.7 µm, 3.2 µm, and 7.3 µm, respectively, indicating the poorest precision for the molar (Pimpressions of abutment teeth using a white light scanner was assessed to be a highly accurate method and provided discrepancy values in a clinically acceptable range. Further study is needed to improve digitizing performance of white light scanning in axial wall.

GEOPOSITIONING PRECISION ANALYSIS OF MULTIPLE IMAGE TRIANGULATION USING LRO NAC LUNAR IMAGES

Directory of Open Access Journals (Sweden)

K. Di

2016-06-01

Full Text Available This paper presents an empirical analysis of the geopositioning precision of multiple image triangulation using Lunar Reconnaissance Orbiter Camera (LROC Narrow Angle Camera (NAC images at the Chang’e-3(CE-3 landing site. Nine LROC NAC images are selected for comparative analysis of geopositioning precision. Rigorous sensor models of the images are established based on collinearity equations with interior and exterior orientation elements retrieved from the corresponding SPICE kernels. Rational polynomial coefficients (RPCs of each image are derived by least squares fitting using vast number of virtual control points generated according to rigorous sensor models. Experiments of different combinations of images are performed for comparisons. The results demonstrate that the plane coordinates can achieve a precision of 0.54 m to 2.54 m, with a height precision of 0.71 m to 8.16 m when only two images are used for three-dimensional triangulation. There is a general trend that the geopositioning precision, especially the height precision, is improved with the convergent angle of the two images increasing from several degrees to about 50°. However, the image matching precision should also be taken into consideration when choosing image pairs for triangulation. The precisions of using all the 9 images are 0.60 m, 0.50 m, 1.23 m in along-track, cross-track, and height directions, which are better than most combinations of two or more images. However, triangulation with selected fewer images could produce better precision than that using all the images.

Application of a Genetic Algorithm to the Optimization of a Missile Autopilot Controller for Performance Criteria with Non-Analytic Solutions

National Research Council Canada - National Science Library

Hull, Richard

1993-01-01

.... Genetic algorithms (GA's), on the other hand, offer a numerical search method which does not require a statement of the mathematical relationship between the performance criteria and the parameter update rule...

Psychiatric genetic research at the National Institute of Mental Health

Energy Technology Data Exchange (ETDEWEB)

Berg, K.; Mullican, C.; Maestri, N. [NIMH/NIH, Rockville, MD (United States)] [and others

1994-12-15

For some time it has been known through the results of family, twin, and adoption studies that hereditary appears to play a significant casual role in many mental disorders, including schizophrenia, bipolar disorder, and other mood disorders, Alzheimer`s Disease, panic disorder, obsessive compulsive disorder, autism, dyslexia, and Tourette`s syndrome. The precise patterns of inheritance of these complex disorders have not been determined, nor have the relevant genes been localized or cloned. Because the genetics are complex and because there is also clearly an environmental contribution to behavior, we expect the analysis of the genetics of mental illness to be arduous and not quickly resolved. There are several compelling reasons to continue to focus our attention on uncovering the genetic factors for severe mental illness. Prominent among these are the implications for better treatment of mental disorders. The National Institute of Mental Health supports a wide range of studies on psychiatric genetic research. 16 refs.

Genetics and Management of the Patient with Orofacial Cleft

Directory of Open Access Journals (Sweden)

Luciano Abreu Brito

2012-01-01

Full Text Available Cleft lip or palate (CL/P is a common facial defect present in 1 : 700 live births and results in substantial burden to patients. There are more than 500 CL/P syndromes described, the causes of which may be single-gene mutations, chromosomopathies, and exposure to teratogens. Part of the most prevalent syndromic CL/P has known etiology. Nonsyndromic CL/P, on the other hand, is a complex disorder, whose etiology is still poorly understood. Recent genome-wide association studies have contributed to the elucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are difficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic CL/P. Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and the patient management, since the patient, followup may be partially influenced by their genetic background. This paper focuses on the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin sequence-associated syndromes and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct of the geneticist.

Characteristics of burden resistors for high-precision DC current transducers

CERN Document Server

Fernqvist, G; Hudson, G; Pickering, J

2007-01-01

The DC current transducer (DCCT) and accompanying A/D converter determine the precision of a power converter in accelerator operation. In the LHC context this precision approaches 10-6 (1 ppm). Inside the DCCT a burden resistor is used to convert the current to an output voltage. The performance of this resistor is crucial for the accuracy, temperature behaviour, settling time and longterm drift of the DCCT. This paper reports on evaluations, a new parameter called â€ﾜpower coefficient” (PC) and test results from some different types of resistors available on the market.

Precision muonium spectroscopy

International Nuclear Information System (INIS)

Jungmann, Klaus P.

2016-01-01

The muonium atom is the purely leptonic bound state of a positive muon and an electron. It has a lifetime of 2.2 µs. The absence of any known internal structure provides for precision experiments to test fundamental physics theories and to determine accurate values of fundamental constants. In particular ground state hyperfine structure transitions can be measured by microwave spectroscopy to deliver the muon magnetic moment. The frequency of the 1s–2s transition in the hydrogen-like atom can be determined with laser spectroscopy to obtain the muon mass. With such measurements fundamental physical interactions, in particular quantum electrodynamics, can also be tested at highest precision. The results are important input parameters for experiments on the muon magnetic anomaly. The simplicity of the atom enables further precise experiments, such as a search for muonium–antimuonium conversion for testing charged lepton number conservation and searches for possible antigravity of muons and dark matter. (author)

Who should know about our genetic makeup and why?

Science.gov (United States)

Takala, T.; Gylling, H. A.

2000-01-01

Recent developments in biology have made it possible to acquire more and more precise information concerning our genetic makeup. Although the most far-reaching effects of these developments will probably be felt only after the Human Genome Project has been completed in a few years' time, scientists can even today identify a number of genetic disorders which may cause illness and disease in their carriers. The improved knowledge regarding the human genome will, it is predicted, in the near future make diagnoses more accurate and treatments more effective, and thereby considerably reduce and prevent unnecessary suffering. On the other hand, however, the knowledge can also be, depending on the case, futile, distressing or plainly harmful. This is why we propose to answer in this paper the dual question: who should know about our genetic makeup and why? Through an analysis of prudential, moral and legal grounds for acquiring the information, we conclude that, at least on the levels of law and social policy, practically nobody is either duty-bound to receive or entitled to have that knowledge. Key Words: Genetic testing • genetic screening • law • ethics • duties PMID:10860207

High-Precision Half-Life Measurements for the Superallowed Fermi β+ Emitters 14O and 18Ne

Science.gov (United States)

Laffoley, A. T.; Andreoiu, C.; Austin, R. A. E.; Ball, G. C.; Bender, P. C.; Bidaman, H.; Bildstein, V.; Blank, B.; Bouzomita, H.; Cross, D. S.; Deng, G.; Diaz Varela, A.; Dunlop, M. R.; Dunlop, R.; Finlay, P.; Garnsworthy, A. B.; Garrett, P.; Giovinazzo, J.; Grinyer, G. F.; Grinyer, J.; Hadinia, B.; Jamieson, D. S.; Jigmeddorj, B.; Ketelhut, S.; Kisliuk, D.; Leach, K. G.; Leslie, J. R.; MacLean, A.; Miller, D.; Mills, B.; Moukaddam, M.; Radich, A. J.; Rajabali, M. M.; Rand, E. T.; Svensson, C. E.; Tardiff, E.; Thomas, J. C.; Turko, J.; Voss, P.; Unsworth, C.

High-precision half-life measurements, at the level of ±0.04%, for the superallowed Fermi emitters 14O and 18Ne have been performed at TRIUMF's Isotope Separator and Accelerator facility. Using 3 independent detector systems, a gas-proportional counter, a fast plastic scintillator, and a high-purity germanium array, a series of direct β and γ counting measurements were performed for each of the isotopes. In the case of 14O, these measurements were made to help resolve an existing discrepancy between detection methods, whereas for 18Ne the half-life precision has been improved in anticipation of forthcoming high-precision branching ratio measurements.

Precision engineering: an evolutionary perspective.

Science.gov (United States)

Evans, Chris J

2012-08-28

Precision engineering is a relatively new name for a technology with roots going back over a thousand years; those roots span astronomy, metrology, fundamental standards, manufacturing and money-making (literally). Throughout that history, precision engineers have created links across disparate disciplines to generate innovative responses to society's needs and wants. This review combines historical and technological perspectives to illuminate precision engineering's current character and directions. It first provides us a working definition of precision engineering and then reviews the subject's roots. Examples will be given showing the contributions of the technology to society, while simultaneously showing the creative tension between the technological convergence that spurs new directions and the vertical disintegration that optimizes manufacturing economics.

Prostate cancer molecular profiling: the Achilles heel for the implementation of precision medicine.

Science.gov (United States)

Oliveira-Barros, Eliane Gouvêa; Nicolau-Neto, Pedro; Da Costa, Nathalia Meireles; Pinto, Luís Felipe Ribeiro; Palumbo, Antonio; Nasciutti, Luiz Eurico

2017-11-01

Cancer has been mainly treated by traditional therapeutic approaches which do not consider the human genetic diversity and present limitations, probably as a consequence of a poor knowledge of both patient's genetic background and tumor biology. Due to genome project conclusion and large-scale gene analyses emergence, the therapeutic management of several prevalent and aggressive tumors has dramatically improved and represents the closest examples of a precision medicine intervention in this field. Nonetheless, prostate cancer (PCa) remains as a challenge to personalized medicine implementation, probably due to its notorious heterogeneous molecular profile. Cancer treatment personalized approaches rely on the premise that a well-defined panorama of tumor molecular alterations can help selecting new and specific therapeutic targets for its treatment and potentially discriminate tumors which behave differentially. Lately, molecular and genetic studies have been investigating PCa basis, revealing multiple recurrent genomic alterations that include mutations, DNA copy-number variations, rearrangements, and gene fusions, among others. In addition to the increment on PCa molecular biology knowledge, mapping the molecular alterations pattern of this neoplasia, especially the differences existent between tumors displaying distinct behaviors, could represent a great improvement concerning the identification of new targets, personalized medicine, and patients' management and prognosis. © 2017 International Federation for Cell Biology.

PAX6 aniridia syndrome: clinics, genetics, and therapeutics.

Science.gov (United States)

Lim, Hyun Taek; Kim, Dae Hee; Kim, Hyuna

2017-09-01

Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings. Aside from the ocular features, a variety of associated systemic abnormalities, including hormonal, metabolic, gastrointestinal, genitourinary, and neurologic pathologies have been reported in children with aniridia. Although mutations in PAX6 are a major cause of aniridia, genetic defects in nearby genes, such as TRIM44 or ELP4, have also been reported to cause aniridia. Recent improvement in genetic testing technique will help more rapid and precise diagnosis for aniridia. A promising therapeutic approach called nonsense suppression therapy has been introduced and successfully used in an animal model. Aniridia is a challenging disease. The progressive nature of this condition and its potential complications require continuous and life-long ophthalmologic care. Genetic diagnosis for aniridia is important for establishing definitive molecular characterization as well as identifying individuals at high risk for Wilms tumor. Recent advancement in understanding the genetic pathogenesis of this disease offers promise for the approaches to treatment.

German politics of genetic engineering and its deconstruction.

Science.gov (United States)

Gottweis, H

1995-05-01

Policy-making, as exemplified by biotechnology policy, can be understood as an attempt to manage a field of discursivity, to construct regularity in a dispersed multitude of combinable elements. Following this perspective of politics as a textual process, the paper interprets the politicization of genetic engineering in Germany as a defence of the political as a regime of heterogeneity, as a field of 'dissensus' rather than 'consensus', and a rejection of the idea that the framing of technological transformation is an autonomous process. From its beginning in the early 1970s, genetic engineering was symbolically entrenched as a key technology of the future, and as an integral element of the German politics of modernization. Attempts by new social movements and the Green Party to displace the egalitarian imaginary of democratic discourse into the politics of genetic engineering were construed by the political élites as an attack on the political order of post-World War II Germany. The 1990 Genetic Engineering Law attempted a closure of this controversy. But it is precisely the homogenizing idiom of this 'settlement' which continues to nourish the social movements and their radical challenge to the definitions and codings of the politics of genetic engineering.

Text Mining for Precision Medicine: Bringing structure to EHRs and biomedical literature to understand genes and health

Science.gov (United States)

Simmons, Michael; Singhal, Ayush; Lu, Zhiyong

2018-01-01

The key question of precision medicine is whether it is possible to find clinically actionable granularity in diagnosing disease and classifying patient risk. The advent of next generation sequencing and the widespread adoption of electronic health records (EHRs) have provided clinicians and researchers a wealth of data and made possible the precise characterization of individual patient genotypes and phenotypes. Unstructured text — found in biomedical publications and clinical notes — is an important component of genotype and phenotype knowledge. Publications in the biomedical literature provide essential information for interpreting genetic data. Likewise, clinical notes contain the richest source of phenotype information in EHRs. Text mining can render these texts computationally accessible and support information extraction and hypothesis generation. This chapter reviews the mechanics of text mining in precision medicine and discusses several specific use cases, including database curation for personalized cancer medicine, patient outcome prediction from EHR-derived cohorts, and pharmacogenomic research. Taken as a whole, these use cases demonstrate how text mining enables effective utilization of existing knowledge sources and thus promotes increased value for patients and healthcare systems. Text mining is an indispensable tool for translating genotype-phenotype data into effective clinical care that will undoubtedly play an important role in the eventual realization of precision medicine. PMID:27807747

Text Mining for Precision Medicine: Bringing Structure to EHRs and Biomedical Literature to Understand Genes and Health.

Science.gov (United States)

Simmons, Michael; Singhal, Ayush; Lu, Zhiyong

2016-01-01

The key question of precision medicine is whether it is possible to find clinically actionable granularity in diagnosing disease and classifying patient risk. The advent of next-generation sequencing and the widespread adoption of electronic health records (EHRs) have provided clinicians and researchers a wealth of data and made possible the precise characterization of individual patient genotypes and phenotypes. Unstructured text-found in biomedical publications and clinical notes-is an important component of genotype and phenotype knowledge. Publications in the biomedical literature provide essential information for interpreting genetic data. Likewise, clinical notes contain the richest source of phenotype information in EHRs. Text mining can render these texts computationally accessible and support information extraction and hypothesis generation. This chapter reviews the mechanics of text mining in precision medicine and discusses several specific use cases, including database curation for personalized cancer medicine, patient outcome prediction from EHR-derived cohorts, and pharmacogenomic research. Taken as a whole, these use cases demonstrate how text mining enables effective utilization of existing knowledge sources and thus promotes increased value for patients and healthcare systems. Text mining is an indispensable tool for translating genotype-phenotype data into effective clinical care that will undoubtedly play an important role in the eventual realization of precision medicine.

FROM PERSONALIZED TO PRECISION MEDICINE

Directory of Open Access Journals (Sweden)

K. V. Raskina

2017-01-01

Full Text Available The need to maintain a high quality of life against a backdrop of its inevitably increasing duration is one of the main problems of modern health care. The concept of "right drug to the right patient at the right time", which at first was bearing the name "personalized", is currently unanimously approved by international scientific community as "precision medicine". Precision medicine takes all the individual characteristics into account: genes diversity, environment, lifestyles, and even bacterial microflora and also involves the use of the latest technological developments, which serves to ensure that each patient gets assistance fitting his state best. In the United States, Canada and France national precision medicine programs have already been submitted and implemented. The aim of this review is to describe the dynamic integration of precision medicine methods into routine medical practice and life of modern society. The new paradigm prospects description are complemented by figures, proving the already achieved success in the application of precise methods for example, the targeted therapy of cancer. All in all, the presence of real-life examples, proving the regularity of transition to a new paradigm, and a wide range  of technical and diagnostic capabilities available and constantly evolving make the all-round transition to precision medicine almost inevitable.

High Precision Measurement of the differential vector boson cross-sections with the ATLAS detector

CERN Document Server

Armbruster, Aaron James; The ATLAS collaboration

2017-01-01

Measurements of the Drell-Yan production of W and Z/gamma bosons at the LHC provide a benchmark of our understanding of perturbative QCD and probe the proton structure in a unique way. The ATLAS collaboration has performed new high precision measurements at center-of-mass energies of 7. The measurements are performed for W+, W- and Z/gamma bosons integrated and as a function of the boson or lepton rapidity and the Z/gamma* mass. Unprecedented precision is reached and strong constraints on Parton Distribution functions, in particular the strange density are found. Z cross sections are also measured at center-of-mass energies of 8 eV and 13TeV, and cross-section ratios to the top-quark pair production have been derived. This ratio measurement leads to a cancellation of systematic effects and allows for a high precision comparison to the theory predictions. The cross section of single W events has also been measured precisely at center-of-mass energies of 8TeV and 13TeV and the W charge asymmetry has been determ...

Polarisation and precise calibration of the LEP beam energy

CERN Document Server

Koutchouk, Jean-Pierre

2002-01-01

We report in this article on two issues of precision accelerator physics, performed at the LEP collider, that challenged international collaborations. The first result is an increase of the polarisation degree from an almost vanishing natural level to 50%, opening the way to energy calibration by resonant depolarisation. The second result is a systematic and precise determination of the collider centre-of- mass energy correcting for subtle effects such as the azimuthal variation of the beam energy, the magnet temperature, the effects of parasitic earth currents and terrestrial tides. It resulted in an extremely accurate test of the standard model and set significant constraints on the top quark and Higgs masses. (16 refs).

Top quark mass measurements: how precise does it get?

CERN Multimedia

CERN. Geneva

2014-01-01

The mass of the top quark is a fundamental parameter of the Standard Model and has to be determined experimentally. Its precise knowledge can be used to constrain new physics models or to check the internal consistency of the Standard Model. Dramatic improvements in experimental techniques over the last years allowed to achieve an unprecedented uncertainty of below 0.5%. In this talk, I present a legacy measurement of the top quark mass performed in lepton+jets final states using the full dataset of proton-antiproton collisions recorded by the DZero detector in Run II at the Tevatron collider, which achieves a relative precision of 0.43%, and outline the perspectives for future improvements at the LHC.

Precision half-life measurement of 17F

Science.gov (United States)

Brodeur, M.; Nicoloff, C.; Ahn, T.; Allen, J.; Bardayan, D. W.; Becchetti, F. D.; Gupta, Y. K.; Hall, M. R.; Hall, O.; Hu, J.; Kelly, J. M.; Kolata, J. J.; Long, J.; O'Malley, P.; Schultz, B. E.

2016-02-01

Background: The precise determination of f t values for superallowed mixed transitions between mirror nuclide are gaining attention as they could provide an avenue to test the theoretical corrections used to extract the Vu d matrix element from superallowed pure Fermi transitions. The 17F decay is particularly interesting as it proceeds completely to the ground state of 17O, removing the need for branching ratio measurements. The dominant uncertainty on the f t value of the 17F mirror transition stems from a number of conflicting half-life measurements. Purpose: A precision half-life measurement of 17F was performed and compared to previous results. Methods: The life-time was determined from the β counting of implanted 17F on a Ta foil that was removed from the beam for counting. The 17F beam was produced by transfers reaction and separated by the TwinSol facility of the Nuclear Science Laboratory of the University of Notre Dame. Results: The measured value of t1/2 new=64.402 (42) s is in agreement with several past measurements and represents one of the most precise measurements to date. In anticipation of future measurements of the correlation parameters for the decay and using the new world average t1/2 world=64.398 (61) s, we present a new estimate of the mixing ratio ρ for the mixed transition as well as the correlation parameters based on assuming Standard Model validity. Conclusions: The relative uncertainty on the new world average for the half-life is dominated by the large χ2=31 of the existing measurements. More precision measurements with different systematics are needed to remedy to the situation.

A Functional-genetic Scheme for Seizure Forecasting in Canine Epilepsy.

Science.gov (United States)

Bou Assi, E; Nguyen, D K; Rihana, S; Sawan, M

2017-09-13

The objective of this work is the development of an accurate seizure forecasting algorithm that considers brain's functional connectivity for electrode selection. We start by proposing Kmeans-directed transfer function, an adaptive functional connectivity method intended for seizure onset zone localization in bilateral intracranial EEG recordings. Electrodes identified as seizure activity sources and sinks are then used to implement a seizure-forecasting algorithm on long-term continuous recordings in dogs with naturallyoccurring epilepsy. A precision-recall genetic algorithm is proposed for feature selection in line with a probabilistic support vector machine classifier. Epileptic activity generators were focal in all dogs confirming the diagnosis of focal epilepsy in these animals while sinks spanned both hemispheres in 2 of 3 dogs. Seizure forecasting results show performance improvement compared to previous studies, achieving average sensitivity of 84.82% and time in warning of 0.1. Achieved performances highlight the feasibility of seizure forecasting in canine epilepsy. The ability to improve seizure forecasting provides promise for the development of EEGtriggered closed-loop seizure intervention systems for ambulatory implantation in patients with refractory epilepsy.

The study of the precision and accuracy of quality control in DXA bone mineral densitometry

International Nuclear Information System (INIS)

Gong Jian; Xu Hao

2005-01-01

Objective: To study the precision and accuracy of quality control (QC) in dual-energy X-ray absorptiometry (DXA) bone mineral densitometry so as to raise the reliability and necessity of the results. Methods: 1) Short-term precision trial: 30 people and 30 SD male rats were chosen, and a precision trail was performed. Each people was scanned twice and reposited in next study. The precision and the least significant change (LSC) of each examinated region were calculated. The short-term precision trail of the rats was performed in the similar way. 2) Accuracy trial: measured the body phantom supplied by factor daily, and compared the results with real value, then calculated the accuracy and correction factor. A Shewhart chart was set up based on average values. Results: 1) People's coefficient of variation (CV) and LSC in the lumbar and proximal femur were 0.7%-2.2% and 0.018-0.048 g/cm 2 . Rats' whole body short-term precision was 0.9%. 2) The average accuracy of DXA densitometer was -0.81%, the correction factor was 0.992. The average bone mineral density measured in successive 25 d was 1.244 g/cm 2 , the standard deviation (SD) was 0.008. Conclusion: The precision and accuracy trail can help to get the information about the working state of the instrument and to analyze the measured results, and can effectively raise the reliability of the measure. (authors)

Precision Continuum Receivers for Astrophysical Applications

Science.gov (United States)

Wollack, Edward J.

2011-01-01

Cryogenically cooled HEMT (High Electron Mobility Transistor) amplifiers find widespread use in radioastronomy receivers. In recent years, these devices have also been commonly employed in broadband receivers for precision measurements of the Cosmic Microwave Background (CMB) radiation. In this setting, the combination of ultra-low-noise and low-spectral-resolution observations reinforce the importance achieving suitable control over the device environment to achieve fundamentally limited receiver performance. The influence of the intrinsic amplifier stability at low frequencies on data quality (e.g., achievable noise and residual temporal correlations), observational and calibration strategies, as well as architectural mitigation approaches in this setting will be discussed. The implications of device level 1/f fluctuations reported in the literature on system performance will be reviewed.

Using genetically modified tomato crop plants with purple leaves for absolute weed/crop classification.

Science.gov (United States)

Lati, Ran N; Filin, Sagi; Aly, Radi; Lande, Tal; Levin, Ilan; Eizenberg, Hanan

2014-07-01

Weed/crop classification is considered the main problem in developing precise weed-management methodologies, because both crops and weeds share similar hues. Great effort has been invested in the development of classification models, most based on expensive sensors and complicated algorithms. However, satisfactory results are not consistently obtained due to imaging conditions in the field. We report on an innovative approach that combines advances in genetic engineering and robust image-processing methods to detect weeds and distinguish them from crop plants by manipulating the crop's leaf color. We demonstrate this on genetically modified tomato (germplasm AN-113) which expresses a purple leaf color. An autonomous weed/crop classification is performed using an invariant-hue transformation that is applied to images acquired by a standard consumer camera (visible wavelength) and handles variations in illumination intensities. The integration of these methodologies is simple and effective, and classification results were accurate and stable under a wide range of imaging conditions. Using this approach, we simplify the most complicated stage in image-based weed/crop classification models. © 2013 Society of Chemical Industry.

Performance of the CMS precision electromagnetic calorimeter at LHC Run II and prospects for High-Luminosity LHC

Science.gov (United States)

Zhang, Zhicai

2018-04-01

Many physics analyses using the Compact Muon Solenoid (CMS) detector at the LHC require accurate, high-resolution electron and photon energy measurements. Following the excellent performance achieved during LHC Run I at center-of-mass energies of 7 and 8 TeV, the CMS electromagnetic calorimeter (ECAL) is operating at the LHC with proton-proton collisions at 13 TeV center-of-mass energy. The instantaneous luminosity delivered by the LHC during Run II has achieved unprecedented levels. The average number of concurrent proton-proton collisions per bunch-crossing (pileup) has reached up to 40 interactions in 2016 and may increase further in 2017. These high pileup levels necessitate a retuning of the ECAL readout and trigger thresholds and reconstruction algorithms. In addition, the energy response of the detector must be precisely calibrated and monitored. We present new reconstruction algorithms and calibration strategies that were implemented to maintain the excellent performance of the CMS ECAL throughout Run II. We will show performance results from the 2015-2016 data taking periods and provide an outlook on the expected Run II performance in the years to come. Beyond the LHC, challenging running conditions for CMS are expected after the High-Luminosity upgrade of the LHC (HL-LHC) . We review the design and R&D studies for the CMS ECAL and present first test beam studies. Particular challenges at HL-LHC are the harsh radiation environment, the increasing data rates, and the extreme level of pile-up events, with up to 200 simultaneous proton-proton collisions. We present test beam results of hadron irradiated PbWO crystals up to fluences expected at the HL-LHC . We also report on the R&D for the new readout and trigger electronics, which must be upgraded due to the increased trigger and latency requirements at the HL-LHC.

Precise shape reconstruction by active pattern in total-internal-reflection-based tactile sensor.

Science.gov (United States)

Saga, Satoshi; Taira, Ryosuke; Deguchi, Koichiro

2014-03-01

We are developing a total-internal-reflection-based tactile sensor in which the shape is reconstructed using an optical reflection. This sensor consists of silicone rubber, an image pattern, and a camera. It reconstructs the shape of the sensor surface from an image of a pattern reflected at the inner sensor surface by total internal reflection. In this study, we propose precise real-time reconstruction by employing an optimization method. Furthermore, we propose to use active patterns. Deformation of the reflection image causes reconstruction errors. By controlling the image pattern, the sensor reconstructs the surface deformation more precisely. We implement the proposed optimization and active-pattern-based reconstruction methods in a reflection-based tactile sensor, and perform reconstruction experiments using the system. A precise deformation experiment confirms the linearity and precision of the reconstruction.

A study of reduced numerical precision to make superparameterization more competitive using a hardware emulator in the OpenIFS model

Science.gov (United States)

Düben, Peter D.; Subramanian, Aneesh; Dawson, Andrew; Palmer, T. N.

2017-03-01

The use of reduced numerical precision to reduce computing costs for the cloud resolving model of superparameterized simulations of the atmosphere is investigated. An approach to identify the optimal level of precision for many different model components is presented, and a detailed analysis of precision is performed. This is nontrivial for a complex model that shows chaotic behavior such as the cloud resolving model in this paper. It is shown not only that numerical precision can be reduced significantly but also that the results of the reduced precision analysis provide valuable information for the quantification of model uncertainty for individual model components. The precision analysis is also used to identify model parts that are of less importance thus enabling a reduction of model complexity. It is shown that the precision analysis can be used to improve model efficiency for both simulations in double precision and in reduced precision. Model simulations are performed with a superparameterized single-column model version of the OpenIFS model that is forced by observational data sets. A software emulator was used to mimic the use of reduced precision floating point arithmetic in simulations.

Genetic correction using engineered nucleases for gene therapy applications.

Science.gov (United States)

Li, Hongmei Lisa; Nakano, Takao; Hotta, Akitsu

2014-01-01

Genetic mutations in humans are associated with congenital disorders and phenotypic traits. Gene therapy holds the promise to cure such genetic disorders, although it has suffered from several technical limitations for decades. Recent progress in gene editing technology using tailor-made nucleases, such as meganucleases (MNs), zinc finger nucleases (ZFNs), TAL effector nucleases (TALENs) and, more recently, CRISPR/Cas9, has significantly broadened our ability to precisely modify target sites in the human genome. In this review, we summarize recent progress in gene correction approaches of the human genome, with a particular emphasis on the clinical applications of gene therapy. © 2013 The Authors Development, Growth & Differentiation © 2013 Japanese Society of Developmental Biologists.

An automated microfluidic DNA microarray platform for genetic variant detection in inherited arrhythmic diseases.

Science.gov (United States)

Huang, Shu-Hong; Chang, Yu-Shin; Juang, Jyh-Ming Jimmy; Chang, Kai-Wei; Tsai, Mong-Hsun; Lu, Tzu-Pin; Lai, Liang-Chuan; Chuang, Eric Y; Huang, Nien-Tsu

2018-03-12

In this study, we developed an automated microfluidic DNA microarray (AMDM) platform for point mutation detection of genetic variants in inherited arrhythmic diseases. The platform allows for automated and programmable reagent sequencing under precise conditions of hybridization flow and temperature control. It is composed of a commercial microfluidic control system, a microfluidic microarray device, and a temperature control unit. The automated and rapid hybridization process can be performed in the AMDM platform using Cy3 labeled oligonucleotide exons of SCN5A genetic DNA, which produces proteins associated with sodium channels abundant in the heart (cardiac) muscle cells. We then introduce a graphene oxide (GO)-assisted DNA microarray hybridization protocol to enable point mutation detection. In this protocol, a GO solution is added after the staining step to quench dyes bound to single-stranded DNA or non-perfectly matched DNA, which can improve point mutation specificity. As proof-of-concept we extracted the wild-type and mutant of exon 12 and exon 17 of SCN5A genetic DNA from patients with long QT syndrome or Brugada syndrome by touchdown PCR and performed a successful point mutation discrimination in the AMDM platform. Overall, the AMDM platform can greatly reduce laborious and time-consuming hybridization steps and prevent potential contamination. Furthermore, by introducing the reciprocating flow into the microchannel during the hybridization process, the total assay time can be reduced to 3 hours, which is 6 times faster than the conventional DNA microarray. Given the automatic assay operation, shorter assay time, and high point mutation discrimination, we believe that the AMDM platform has potential for low-cost, rapid and sensitive genetic testing in a simple and user-friendly manner, which may benefit gene screening in medical practice.

Genetic parameters of performance traits in Sul-Mato-Grossenses naturalized sheep

Directory of Open Access Journals (Sweden)

Daniele Portela de Oliveira

2014-02-01

Full Text Available Estimates of genetic parameters are important to study characteristics that are to be included in a breeding program of a genetic group. The information of 594 weights from 211 lambs of a genetic group of naturalized Sul-mato-grossenses sheep belonging to Manoel de Barros Foundation and breeding at Centro Tecnologico de Ovinos from Anhanguera-Uniderp University was used. The estimation of variance components in unicaracter and bicaracter analysis were carried out through Bayesian inference. Estimates of heritability ranged from unicaracter analyses (0.22 to 0.47 and the bicaracter analyses (0.13 to 0.78. The maternal environmental permanent effect was higher in birth weight and average daily gain from birth to 50 days in 24.2% and 19.5%, respectively, in the observed variation. Estimates of heritability, maternal environmental permanent effect participation, phenotypic and genetic correlations indicate that selection for average daily gain from birth to 90 days would imply increases in weight at 50 days, weight at 90 days and average daily gain from 50 to 90 days of lambs with no significant increase in birth weight and average daily gain birth at 50 days.

Development of sensor guided precision sprayers

NARCIS (Netherlands)

Nieuwenhuizen, A.T.; Zande, van de J.C.

2013-01-01

Sensor guided precision sprayers were developed to automate the spray process with a focus on emission reduction and identical or increased efficacy, with the precision agriculture concept in mind. Within the project “Innovations2” sensor guided precision sprayers were introduced to leek,

Precision measurements with W and Z/gamma* bosons with the ATLAS detector

CERN Document Server

Anulli, Fabio; The ATLAS collaboration

2016-01-01

The inclusive production of single W and $Z/\\gamma^{*}$ bosons are standard candles at hadron colliders. ATLAS has recently completed a set of very precise measurements of production cross-sections and lepton decay angular distributions integrated and differential in several variables at centre-of-mass energies of 7, 8, and 13 TeV. ATLAS has performed a measurement of the complete set of coefficients that describe the angular distributions of the decay leptons in Z events in fine bins of the Z transverse momentum and in several bins of Z rapidity. Furthermore a measurement of the dilepton transverse momentum spectrum as well as the related angular decorrelation variable $\\phi^{*}$ was performed in a wide range of dilepton masses from 12 to 150 GeV. Precise double-differential measurements of the Drell-Yan cross section in the region above the Z peak up to dilepton masses of 1500 GeV are presented as well. Finally, first precise measurements of integrated W and Z cross sections and cross section ratios at 13 T...

Comparison of genetic algorithms with conjugate gradient methods

Science.gov (United States)

Bosworth, J. L.; Foo, N. Y.; Zeigler, B. P.

1972-01-01

Genetic algorithms for mathematical function optimization are modeled on search strategies employed in natural adaptation. Comparisons of genetic algorithms with conjugate gradient methods, which were made on an IBM 1800 digital computer, show that genetic algorithms display superior performance over gradient methods for functions which are poorly behaved mathematically, for multimodal functions, and for functions obscured by additive random noise. Genetic methods offer performance comparable to gradient methods for many of the standard functions.

Observing exoplanet populations with high-precision astrometry

Science.gov (United States)

Sahlmann, Johannes

2012-06-01

This thesis deals with the application of the astrometry technique, consisting in measuring the position of a star in the plane of the sky, for the discovery and characterisation of extra-solar planets. It is feasible only with a very high measurement precision, which motivates the use of space observatories, the development of new ground-based astronomical instrumentation and of innovative data analysis methods: The study of Sun-like stars with substellar companions using CORALIE radial velocities and HIPPARCOS astrometry leads to the determination of the frequency of close brown dwarf companions and to the discovery of a dividing line between massive planets and brown dwarf companions; An observation campaign employing optical imaging with a very large telescope demonstrates sufficient astrometric precision to detect planets around ultra-cool dwarf stars and the first results of the survey are presented; Finally, the design and initial astrometric performance of PRIMA, ! a new dual-feed near-infrared interferometric observing facility for relative astrometry is presented.

Precision lens assembly with alignment turning system

Science.gov (United States)

Ho, Cheng-Fang; Huang, Chien-Yao; Lin, Yi-Hao; Kuo, Hui-Jean; Kuo, Ching-Hsiang; Hsu, Wei-Yao; Chen, Fong-Zhi

2017-10-01

The poker chip assembly with high precision lens barrels is widely applied to ultra-high performance optical system. ITRC applies the poker chip assembly technology to the high numerical aperture objective lenses and lithography projection lenses because of its high efficiency assembly process. In order to achieve high precision lens cell for poker chip assembly, an alignment turning system (ATS) is developed. The ATS includes measurement, alignment and turning modules. The measurement module is equipped with a non-contact displacement sensor (NCDS) and an autocollimator (ACM). The NCDS and ACM are used to measure centration errors of the top and the bottom surface of a lens respectively; then the amount of adjustment of displacement and tilt with respect to the rotational axis of the turning machine for the alignment module can be determined. After measurement, alignment and turning processes on the ATS, the centration error of a lens cell with 200 mm in diameter can be controlled within 10 arcsec. Furthermore, a poker chip assembly lens cell with three sub-cells is demonstrated, each sub-cells are measured and accomplished with alignment and turning processes. The lens assembly test for five times by each three technicians; the average transmission centration error of assembly lens is 12.45 arcsec. The results show that ATS can achieve high assembly efficiency for precision optical systems.

Diagnosis of genetic predisposition for lactose intolerance by high resolution melting analysis.

Science.gov (United States)

Delacour, Hervé; Leduc, Amandine; Louçano-Perdriat, Andréa; Plantamura, Julie; Ceppa, Franck

2017-02-01

Lactose, the principle sugar in milk, is a disaccharide hydrolyzed by intestinal lactase into glucose and galactose, which are absorbed directly by diffusion in the intestine. The decline of lactase expression (or hypolactasia) in intestinal microvilli after weaning is a normal phenomenon in mammals known as lactase deficiency. It is observed in nearly 75% of the world population and is an inherited autosomal recessive trait with incomplete penetrance. It is caused by SNPs in a regulatory element for lactase gene. In Indo-European, lactase deficiency is associated with rs4982235 SNP (or -13910C>T). The aim of this study is to describe a method based on high resolution melting for rapidly detecting genetic predisposition to lactose intolerance. Analytical performance of the assay was assessed by evaluating within and betwwen-run precision and by comparing the results (n = 50 patients) obtained with the HRM assay to those obtained with the gold standard (Sanger sequencing of the region of interest). In silico prediction of HRM curves was performed to evaluate the potential impact of the other SNPs described within the PCR product on the HRM analytical performances. The assay has good performance (CV lactose intolerance.

Precision and Accuracy Parameters in Structured Light 3-D Scanning

DEFF Research Database (Denmark)

Eiríksson, Eyþór Rúnar; Wilm, Jakob; Pedersen, David Bue

2016-01-01

measure is the established VDI/VDE 2634 (Part 2) guideline using precision made calibration artifacts. Experiments are performed on our own structured light setup, consisting of two cameras and a projector. We place our focus on the influence of calibration design parameters, the calibration procedure...

The development of alignment turning system for precision len cells

Science.gov (United States)

Huang, Chien-Yao; Ho, Cheng-Fang; Wang, Jung-Hsing; Chung, Chien-Kai; Chen, Jun-Cheng; Chang, Keng-Shou; Kuo, Ching-Hsiang; Hsu, Wei-Yao; Chen, Fong-Zhi

2017-08-01

In general, the drop-in and cell-mounted assembly are used for standard and high performance optical system respectively. The optical performance is limited by the residual centration error and position accuracy of the conventional assembly. Recently, the poker chip assembly with high precision lens barrels that can overcome the limitation of conventional assembly is widely applied to ultra-high performance optical system. ITRC also develops the poker chip assembly solution for high numerical aperture objective lenses and lithography projection lenses. In order to achieve high precision lens cell for poker chip assembly, an alignment turning system (ATS) is developed. The ATS includes measurement, alignment and turning modules. The measurement module including a non-contact displacement sensor and an autocollimator can measure centration errors of the top and the bottom surface of a lens respectively. The alignment module comprising tilt and translation stages can align the optical axis of the lens to the rotating axis of the vertical lathe. The key specifications of the ATS are maximum lens diameter, 400mm, and radial and axial runout of the rotary table < 2 μm. The cutting performances of the ATS are surface roughness Ra < 1 μm, flatness < 2 μm, and parallelism < 5 μm. After measurement, alignment and turning processes on our ATS, the centration error of a lens cell with 200mm in diameter can be controlled in 10 arcsec. This paper also presents the thermal expansion of the hydrostatic rotating table. A poker chip assembly lens cell with three sub-cells is accomplished with average transmission centration error in 12.45 arcsec by fresh technicians. The results show that ATS can achieve high assembly efficiency for precision optical systems.

Influence of Waveform Characteristics on LiDAR Ranging Accuracy and Precision

Science.gov (United States)

Yang, Bingwei; Xie, Xinhao; Li, Duan

2018-01-01

Time of flight (TOF) based light detection and ranging (LiDAR) is a technology for calculating distance between start/stop signals of time of flight. In lab-built LiDAR, two ranging systems for measuring flying time between start/stop signals include time-to-digital converter (TDC) that counts time between trigger signals and analog-to-digital converter (ADC) that processes the sampled start/stop pulses waveform for time estimation. We study the influence of waveform characteristics on range accuracy and precision of two kinds of ranging system. Comparing waveform based ranging (WR) with analog discrete return system based ranging (AR), a peak detection method (WR-PK) shows the best ranging performance because of less execution time, high ranging accuracy, and stable precision. Based on a novel statistic mathematical method maximal information coefficient (MIC), WR-PK precision has a high linear relationship with the received pulse width standard deviation. Thus keeping the received pulse width of measuring a constant distance as stable as possible can improve ranging precision. PMID:29642639