Assessing Rare Variation In Complex Traits

Author : Eleftheria Zeggini,Andrew Morris
Publisher : Springer
Page : 263 pages
File Size : 49,5 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.

Author : Evangelos Evangelou
Publisher : Humana Press
Page : 299 pages
File Size : 53,9 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.

Author : Gregory Connor,John G.R. Fuerst
Publisher : Cambridge Scholars Publishing
Page : 360 pages
File Size : 43,9 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.

Author : Diego A. Forero
Publisher : CRC Press
Page : 374 pages
File Size : 49,7 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.

Author : Claude Bouchard,Eric P. Hoffman
Publisher : John Wiley & Sons
Page : 584 pages
File Size : 40,5 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.

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 : 40,8 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.

Author : Roger N. Rosenberg,Juan M. Pascual
Publisher : Elsevier
Page : 1464 pages
File Size : 45,9 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

Author : Henry T. Nguyen,Madan Kumar Bhattacharyya
Publisher : Springer
Page : 211 pages
File Size : 47,7 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.

Author : Pierre Pontarotti
Publisher : Springer
Page : 396 pages
File Size : 47,5 Mb
Release : 2017-08-08
Category : Science
ISBN : 9783319615691

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Evolutionary Biology: Self/Nonself Evolution, Species and Complex Traits Evolution, Methods and Concepts by Pierre Pontarotti Pdf

This book presents 19 selected contributions to the 20th Evolutionary Biology Meeting in Marseille, which took place in September 2016. They are grouped under the following major themes: · Self/Nonself Evolution · Species Evolution and Evolution of Complex Traits · Methods and Concepts The aims of the annual meetings in Marseille – which bring together leading evolutionary biologists and other scientists using evolutionary biology concepts, e.g. for medical research – are to promote the exchange of ideas and to encourage interdisciplinary collaborations. Offering a revealing overview of the latest findings in the field of evolutionary biology, this book represents an invaluable source of information for scientists, teachers and advanced students alike.

Author : Ravindranath Duggirala,Laura Almasy,Sarah Williams-Blangero,Solomon F.D. Paul,Chittaranjan Kole
Publisher : Springer
Page : 305 pages
File Size : 49,6 Mb
Release : 2015-03-25
Category : Science
ISBN : 9783662463062

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Genome Mapping and Genomics in Human and Non-Human Primates by Ravindranath Duggirala,Laura Almasy,Sarah Williams-Blangero,Solomon F.D. Paul,Chittaranjan Kole Pdf

This book provides an introduction to the latest gene mapping techniques and their applications in biomedical research and evolutionary biology. It especially highlights the advances made in large-scale genomic sequencing. Results of studies that illustrate how the new approaches have improved our understanding of the genetic basis of complex phenotypes including multifactorial diseases (e.g., cardiovascular disease, type 2 diabetes, and obesity), anatomic characteristics (e.g., the craniofacial complex), and neurological and behavioral phenotypes (e.g., human brain structure and nonhuman primate behavior) are presented. Topics covered include linkage and association methods, gene expression, copy number variation, next-generation sequencing, comparative genomics, population structure, and a discussion of the Human Genome Project. Further included are discussions of the use of statistical genetic and genetic epidemiologic techniques to decipher the genetic architecture of normal and disease-related complex phenotypes using data from both humans and non-human primates.

Author : National Research Council,Commission on Behavioral and Social Sciences and Education,Committee on Population
Publisher : National Academies Press
Page : 388 pages
File Size : 44,8 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.

Author : Mashaal Sohail,Jeremy Berg,Diego Ortega-Del Vecchyo
Publisher : Frontiers Media SA
Page : 108 pages
File Size : 49,7 Mb
Release : 2022-03-31
Category : Science
ISBN : 9782889748716

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Genetic Architecture and Evolution of Complex Traits and Diseases in Diverse Human Populations by Mashaal Sohail,Jeremy Berg,Diego Ortega-Del Vecchyo Pdf

Author : Institute of Medicine,Committee on Assessing Genetic Risks
Publisher : National Academies Press
Page : 353 pages
File Size : 54,8 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.

Author : Andrew R. Collins
Publisher : Springer Science & Business Media
Page : 529 pages
File Size : 48,9 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.

Author : Robert M. Kliegman,Bonita F. Stanton,Joseph St. Geme,Nina F Schor
Publisher : Elsevier Health Sciences
Page : 5109 pages
File Size : 52,8 Mb
Release : 2015-04-17
Category : Medical
ISBN : 9780323263528

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Nelson Textbook of Pediatrics E-Book by Robert M. Kliegman,Bonita F. Stanton,Joseph St. Geme,Nina F Schor Pdf

After more than 75 years, Nelson Textbook of Pediatrics remains your indispensable source for definitive, state-of-the-art answers on every aspect of pediatric care. Embracing the new advances in science as well as the time-honored art of pediatric practice, this classic reference provides the essential information that practitioners and other care providers involved in pediatric health care throughout the world need to understand to effectively address the enormous range of biologic, psychologic, and social problems that our children and youth may face. Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition. A NEW layout provides superior portability and exceptional ease of use. Gain a more complete perspective. Along with a broader emphasis on imaging and molecular diagnoses and updated references, the new edition includes an increased focus on international issues to ensure relevance in pediatrics practice throughout the world. Effectively apply the latest techniques and approaches with complete updates throughout 35 new chapters, including: Innovations in Addressing Child Health and Survival in Low Income Settings; Developmental Domains and Theories of Cognition; The Reggio Emilia Educational Approach Catatonia ; Refeeding Syndrome; Altitude-associated Illness; Genetic Approaches to Rare and Undiagnosed Diseases; Healthcare−Associated Infections; Intrapartum and Peripartum Infections; Bath salts and other drugs of abuse; Small Fiber Polyneuropathy; Microbiome; Kingella kingae; Mitochondrial Neurogastrointestinal Encephalomyopathy; Nonalcoholic Fatty Liver Disease; Plagiocephaly; CNS Vasculitis; Anterior Cruciate Ligament Rupture; and Sports-Related Traumatic Brain Injury. Recognize, diagnose, and manage genetic and acquired conditions more effectively. A new Rehabilitation section with 10 new chapters, including: Evaluation of the Child for Rehabilitative Services; Severe Traumatic Brain Injury; Spinal Cord Injury and Autonomic Crisis Management; Spasticity; Birth Brachial Plexus Palsy; Traumatic and Sports-Related Injuries; Meningomyelocele; Health and Wellness for Children with Disabilities. Manage the transition to adult healthcare for children with chronic diseases through discussions of the overall health needs of patients with congenital heart defects, diabetes, and cystic fibrosis. Understand the principles of therapy and which drugs and dosages to prescribe for every disease.