Assessing Rare Variation In Complex Traits

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Assessing Rare Variation in Complex Traits

Author : Eleftheria Zeggini,Andrew Morris
Publisher : Springer
Page : 263 pages
File Size : 54,6 Mb
Release : 2015-08-13
Category : Medical
ISBN : 9781493928248

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Assessing Rare Variation in Complex Traits by Eleftheria Zeggini,Andrew Morris Pdf

This book is unique in covering a wide range of design and analysis issues in genetic studies of rare variants, taking advantage of collaboration of the editors with many experts in the field through large-scale international consortia including the UK10K Project, GO-T2D and T2D-GENES. Chapters provide details of state-of-the-art methodology for rare variant detection and calling, imputation and analysis in samples of unrelated individuals and families. The book also covers analytical issues associated with the study of rare variants, such as the impact of fine-scale population structure, and with combining information on rare variants across studies in a meta-analysis framework. Genetic association studies have in the last few years substantially enhanced our understanding of factors underlying traits of high medical importance, such as body mass index, lipid levels, blood pressure and many others. There is growing empirical evidence that low-frequency and rare variants play an important role in complex human phenotypes. This book covers multiple aspects of study design, analysis and interpretation for complex trait studies focusing on rare sequence variation. In many areas of genomic research, including complex trait association studies, technology is in danger of outstripping our capacity to analyse and interpret the vast amounts of data generated. The field of statistical genetics in the whole-genome sequencing era is still in its infancy, but powerful methods to analyse the aggregation of low-frequency and rare variants are now starting to emerge. The chapter Functional Annotation of Rare Genetic Variants is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Genetic Epidemiology

Author : Evangelos Evangelou
Publisher : Humana Press
Page : 299 pages
File Size : 46,8 Mb
Release : 2018-06-07
Category : Medical
ISBN : 1493978675

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Genetic Epidemiology by Evangelos Evangelou Pdf

This volume details fast-moving research while providing in-depth descriptions of methods and analytical approaches that are helping to understand the genome and how it is related to complex diseases. Chapters guide the reader through common and rare variation, gene-gene and gene-environment interactions and state-of-the-art approaches for the synthesis of genome-wide and gene expression data. Novel approaches for associations in the HLA region, family-based designs, Mendelian Randomization and Copy Number Variation are also presented. The volume concludes with the challenges researchers face while moving from identifying variants to their functional role and potential drug targets. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, a thorough presentation of methods and approaches and tips on troubleshooting and avoiding known pitfalls.

Studying Correlations between Genetic Variation and Test Score Gaps

Author : Gregory Connor,John G.R. Fuerst
Publisher : Cambridge Scholars Publishing
Page : 360 pages
File Size : 42,7 Mb
Release : 2024-02-07
Category : Education
ISBN : 9781527575677

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Studying Correlations between Genetic Variation and Test Score Gaps by Gregory Connor,John G.R. Fuerst Pdf

This book is an edited collection of recently published papers on the sources of average test score gaps when analysed through the lenses of race and ethnicity, socio-economic status, and biogeographic ancestries such as European, African, and East Asian ancestry. It brings together exciting recent findings that rely on powerful DNA-based methods developed in the last few decades. The book also considers the public policy question as to whether, and how, these findings should be disseminated to the general public audience.

Bioinformatics and Human Genomics Research

Author : Diego A. Forero
Publisher : CRC Press
Page : 374 pages
File Size : 46,8 Mb
Release : 2021-12-22
Category : Science
ISBN : 9781000405675

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Bioinformatics and Human Genomics Research by Diego A. Forero Pdf

Advances in high-throughput biological methods have led to the publication of a large number of genome-wide studies in human and animal models. In this context, recent tools from bioinformatics and computational biology have been fundamental for the analysis of these genomic studies. The book Bioinformatics and Human Genomics Research provides updated and comprehensive information about multiple approaches of the application of bioinformatic tools to research in human genomics. It covers strategies analysis of genome-wide association studies, genome-wide expression studies and genome-wide DNA methylation, among other topics. It provides interesting strategies for data mining in human genomics, network analysis, prediction of binding sites for miRNAs and transcription factors, among other themes. Experts from all around the world in bioinformatics and human genomics have contributed chapters in this book. Readers will find this book as quite useful for their in silico explorations, which would contribute to a better and deeper understanding of multiple biological processes and of pathophysiology of many human diseases.

Biosocial Surveys

Author : National Research Council,Division of Behavioral and Social Sciences and Education,Committee on Population,Committee on Advances in Collecting and Utilizing Biological Indicators and Genetic Information in Social Science Surveys
Publisher : National Academies Press
Page : 429 pages
File Size : 41,7 Mb
Release : 2008-01-06
Category : Social Science
ISBN : 9780309108676

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Biosocial Surveys by National Research Council,Division of Behavioral and Social Sciences and Education,Committee on Population,Committee on Advances in Collecting and Utilizing Biological Indicators and Genetic Information in Social Science Surveys Pdf

Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.

Cells and Surveys

Author : National Research Council,Commission on Behavioral and Social Sciences and Education,Committee on Population
Publisher : National Academies Press
Page : 388 pages
File Size : 47,7 Mb
Release : 2001-01-19
Category : Social Science
ISBN : 9780309171434

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Cells and Surveys by National Research Council,Commission on Behavioral and Social Sciences and Education,Committee on Population Pdf

What can social science, and demography in particular, reasonably expect to learn from biological information? There is increasing pressure for multipurpose household surveys to collect biological data along with the more familiar interviewer-respondent information. Given that recent technical developments have made it more feasible to collect biological information in non-clinical settings, those who fund, design, and analyze survey data need to think through the rationale and potential consequences. This is a concern that transcends national boundaries. Cells and Surveys addresses issues such as which biologic/genetic data should be collected in order to be most useful to a range of social scientists and whether amassing biological data has unintended side effects. The book also takes a look at the various ethical and legal concerns that such data collection entails.

The Encyclopaedia of Sports Medicine, Genetic and Molecular Aspects of Sports Performance

Author : Claude Bouchard,Eric P. Hoffman
Publisher : John Wiley & Sons
Page : 584 pages
File Size : 50,8 Mb
Release : 2011-08-02
Category : Medical
ISBN : 9781444348293

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The Encyclopaedia of Sports Medicine, Genetic and Molecular Aspects of Sports Performance by Claude Bouchard,Eric P. Hoffman Pdf

This is the latest volume in the IOC Encyclopaedia of Sports Medicine series, summarizing the evidence from all relevant sources on the genetic and molecular basis of sports and other human physical performance. The initial chapters address the basic science of genomics and genetics and the regulation of gene expression. Additional chapters provide authoritative information on the genetics of complex performance phenotypes, the contributions of small animal research, family and twin studies, and ethnic comparisons. A final section addresses the issue of the contribution of specific genes and molecular markers as related to endurance, strength and power, and responsiveness to specific conditioning programs. This latest volume in the Encyclopaedia of Sports Medicine Series from the Medical Commission of the International Olympic Committee is a must for sports and exercise scientists who require a thorough guide to the most cutting edge science in this expanding field.

An Evidence Framework for Genetic Testing

Author : National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Care Services,Board on the Health of Select Populations,Committee on the Evidence Base for Genetic Testing
Publisher : National Academies Press
Page : 149 pages
File Size : 55,8 Mb
Release : 2017-04-21
Category : Medical
ISBN : 9780309453295

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An Evidence Framework for Genetic Testing by National Academies of Sciences, Engineering, and Medicine,Health and Medicine Division,Board on Health Care Services,Board on the Health of Select Populations,Committee on the Evidence Base for Genetic Testing Pdf

Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Assessing Genetic Risks

Author : Institute of Medicine,Committee on Assessing Genetic Risks
Publisher : National Academies Press
Page : 353 pages
File Size : 42,5 Mb
Release : 1994-01-01
Category : Medical
ISBN : 9780309047982

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Assessing Genetic Risks by Institute of Medicine,Committee on Assessing Genetic Risks Pdf

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Linkage Disequilibrium and Association Mapping

Author : Andrew R. Collins
Publisher : Springer Science & Business Media
Page : 529 pages
File Size : 42,8 Mb
Release : 2008-02-05
Category : Medical
ISBN : 9781597453899

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Linkage Disequilibrium and Association Mapping by Andrew R. Collins Pdf

As researchers continue to make enormous progress in mapping disease genes, exciting, novel, and complex analyses have emerged. In this book, scientists from around the world, who are leaders in this field, contribute their vast experience and expertise to produce a comprehensive and fascinating text for researchers and clinicians alike. They provide cutting-edge analysis of the most up-to-date and preeminent information available.

Scientific Frontiers in Developmental Toxicology and Risk Assessment

Author : National Research Council,Commission on Life Sciences,Board on Environmental Studies and Toxicology,Committee on Developmental Toxicology
Publisher : National Academies Press
Page : 348 pages
File Size : 52,7 Mb
Release : 2000-12-21
Category : Nature
ISBN : 9780309070867

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Scientific Frontiers in Developmental Toxicology and Risk Assessment by National Research Council,Commission on Life Sciences,Board on Environmental Studies and Toxicology,Committee on Developmental Toxicology Pdf

Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Author : Roger N. Rosenberg,Juan M. Pascual
Publisher : Elsevier
Page : 1464 pages
File Size : 44,5 Mb
Release : 2014-10-28
Category : Medical
ISBN : 9780124105492

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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by Roger N. Rosenberg,Juan M. Pascual Pdf

Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Cochrane Handbook for Systematic Reviews of Interventions

Author : Julian P. T. Higgins,Sally Green
Publisher : Wiley
Page : 672 pages
File Size : 47,8 Mb
Release : 2008-11-24
Category : Medical
ISBN : 0470699515

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Cochrane Handbook for Systematic Reviews of Interventions by Julian P. T. Higgins,Sally Green Pdf

Healthcare providers, consumers, researchers and policy makers are inundated with unmanageable amounts of information, including evidence from healthcare research. It has become impossible for all to have the time and resources to find, appraise and interpret this evidence and incorporate it into healthcare decisions. Cochrane Reviews respond to this challenge by identifying, appraising and synthesizing research-based evidence and presenting it in a standardized format, published in The Cochrane Library (www.thecochranelibrary.com). The Cochrane Handbook for Systematic Reviews of Interventions contains methodological guidance for the preparation and maintenance of Cochrane intervention reviews. Written in a clear and accessible format, it is the essential manual for all those preparing, maintaining and reading Cochrane reviews. Many of the principles and methods described here are appropriate for systematic reviews applied to other types of research and to systematic reviews of interventions undertaken by others. It is hoped therefore that this book will be invaluable to all those who want to understand the role of systematic reviews, critically appraise published reviews or perform reviews themselves.

The Soybean Genome

Author : Henry T. Nguyen,Madan Kumar Bhattacharyya
Publisher : Springer
Page : 211 pages
File Size : 54,5 Mb
Release : 2017-09-20
Category : Science
ISBN : 9783319641980

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The Soybean Genome by Henry T. Nguyen,Madan Kumar Bhattacharyya Pdf

This book examines the application of soybean genome sequences to comparative, structural, and functional genomics. Since the availability of the soybean genome sequence has revolutionized molecular research on this important crop species, the book also describes how the genome sequence has shaped research on transposon biology and applications for gene identification, tilling and positional gene cloning. Further, the book shows how the genome sequence influences research in the areas of genetic mapping, marker development, and genome-wide association mapping for identifying important trait genes and soybean breeding. In closing, the economic and botanical aspects of the soybean are also addressed.

A Framework for K-12 Science Education

Author : National Research Council,Division of Behavioral and Social Sciences and Education,Board on Science Education,Committee on a Conceptual Framework for New K-12 Science Education Standards
Publisher : National Academies Press
Page : 400 pages
File Size : 47,9 Mb
Release : 2012-02-28
Category : Education
ISBN : 9780309214452

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A Framework for K-12 Science Education by National Research Council,Division of Behavioral and Social Sciences and Education,Board on Science Education,Committee on a Conceptual Framework for New K-12 Science Education Standards Pdf

Science, engineering, and technology permeate nearly every facet of modern life and hold the key to solving many of humanity's most pressing current and future challenges. The United States' position in the global economy is declining, in part because U.S. workers lack fundamental knowledge in these fields. To address the critical issues of U.S. competitiveness and to better prepare the workforce, A Framework for K-12 Science Education proposes a new approach to K-12 science education that will capture students' interest and provide them with the necessary foundational knowledge in the field. A Framework for K-12 Science Education outlines a broad set of expectations for students in science and engineering in grades K-12. These expectations will inform the development of new standards for K-12 science education and, subsequently, revisions to curriculum, instruction, assessment, and professional development for educators. This book identifies three dimensions that convey the core ideas and practices around which science and engineering education in these grades should be built. These three dimensions are: crosscutting concepts that unify the study of science through their common application across science and engineering; scientific and engineering practices; and disciplinary core ideas in the physical sciences, life sciences, and earth and space sciences and for engineering, technology, and the applications of science. The overarching goal is for all high school graduates to have sufficient knowledge of science and engineering to engage in public discussions on science-related issues, be careful consumers of scientific and technical information, and enter the careers of their choice. A Framework for K-12 Science Education is the first step in a process that can inform state-level decisions and achieve a research-grounded basis for improving science instruction and learning across the country. The book will guide standards developers, teachers, curriculum designers, assessment developers, state and district science administrators, and educators who teach science in informal environments.