Author: Emily Catherine Glassberg
Publisher:
ISBN:
Category :
Languages : en
Pages :
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Book Description
A central goal of human genetics is to understand how the genome contributes to complex traits like height, BMI, and risk for many common diseases. This question is particularly challenging to answer in that analyses of human complex traits rely largely on observational data. In this dissertation, I present several projects that utilize statistical models and careful interpretation of data to infer features of latent process from observational data. First, I aim to improve our understanding of human complex trait architecture by exploring the effects of selective constraint on gene expression. I demonstrate that, while there is clear evidence of widespread constraint on gene expression, this selection is weak. Much of the variance of gene expression across individuals is, therefore, attributable to common genetic variants. Consistent with existing literature, this suggests that the genetic architecture of complex traits is highly polygenic. I also consider the role of previously under-studied contributors to genetic variance (e.g., epistatic interactions, somatic variation, and short tandem repeats) in complex traits. In addition, I apply the same careful consideration of confounders and data interpretation to measure, and understand possible drivers of, gendered differences in behavior between men and women scientists at academic meetings.
Author: Jonathan L. Haines
Publisher: John Wiley & Sons
ISBN: 0471781134
Category : Science
Languages : en
Pages : 507
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Book Description
Second Edition features the latest tools for uncovering thegenetic basis of human disease The Second Edition of this landmark publication bringstogether a team of leading experts in the field to thoroughlyupdate the publication. Readers will discover the tremendousadvances made in human genetics in the seven years that haveelapsed since the First Edition. Once again, the editorshave assembled a comprehensive introduction to the strategies,designs, and methods of analysis for the discovery of genes incommon and genetically complex traits. The growing social, legal,and ethical issues surrounding the field are thoroughly examined aswell. Rather than focusing on technical details or particularmethodologies, the editors take a broader approach that emphasizesconcepts and experimental design. Readers familiar with theFirst Edition will find new and cutting-edge materialincorporated into the text: Updated presentations of bioinformatics, multiple comparisons,sample size requirements, parametric linkage analysis, case-controland family-based approaches, and genomic screening New methods for analysis of gene-gene and gene-environmentinteractions A completely rewritten and updated chapter on determininggenetic components of disease New chapters covering molecular genomic approaches such asmicroarray and SAGE analyses using single nucleotide polymorphism(SNP) and cDNA expression data, as well as quantitative trait loci(QTL) mapping The editors, two of the world's leading genetic epidemiologists,have ensured that each chapter adheres to a consistent and highstandard. Each one includes all-new discussion questions andpractical examples. Chapter summaries highlight key points, and alist of references for each chapter opens the door to furtherinvestigation of specific topics. Molecular biologists, human geneticists, geneticepidemiologists, and clinical and pharmaceutical researchers willfind the Second Edition a helpful guide to understanding thegenetic basis of human disease, with its new tools for detectingrisk factors and discovering treatment strategies.
Author: Anna K. Naumova
Publisher: Springer Science & Business Media
ISBN: 1461480787
Category : Medical
Languages : en
Pages : 356
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Book Description
This book will provide an overview of basic epigenetic phenomena; interaction between epigenetic and genetic factors; and the influence of epigenetic factors on inheritance. Epigenetic states may contribute to the penetrance of genetic polymorphisms or mutations and thereby modify inheritance patterns. This may result in non‐Mendelian inheritance of genetic traits such as observed in common human disease. The relationship between epigenetics and genetics, however, has not been comprehensively summarized yet. The topic is being more and more appreciated lately due to considerable advances in genomic and epigenomic approaches to study the origins of human disease. The editors will focus not only on describing epigenetic characteristics, mechanisms and results, but also on how considerations of epigenetics can alter interpretation and analysis of risks for complex traits. This book will be a resource for those who have been working in human genetics or analysis of human genetic data and are studying the impact of epigenetics on inheritance. An overview will be given of the impacts of inter‐individual variation in epigenetic states from major changes (errors in genomic imprinting) that cause congenital developmental defects to subtle changes and their impact on complex traits. The editors will discuss the relationship between epigenetic changes and genetic changes in human disease. Several chapters will also focus on statistical analysis of epigenetics effects, either in human disease genetic studies, or in population genetics.
Author: William K. Scott
Publisher: John Wiley & Sons
ISBN: 1119104076
Category : Science
Languages : en
Pages : 340
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Book Description
Genetic Analysis of Complex Diseases An up-to-date and complete treatment of the strategies, designs and analysis methods for studying complex genetic disease in human beings In the newly revised Third Edition of Genetic Analysis of Complex Diseases, a team of distinguished geneticists delivers a comprehensive introduction to the most relevant strategies, designs and methods of analysis for the study of complex genetic disease in humans. The book focuses on concepts and designs, thereby offering readers a broad understanding of common problems and solutions in the field based on successful applications in the design and execution of genetic studies. This edited volume contains contributions from some of the leading voices in the area and presents new chapters on high-throughput genomic sequencing, copy-number variant analysis and epigenetic studies. Providing clear and easily referenced overviews of the considerations involved in genetic analysis of complex human genetic disease, including sampling, design, data collection, linkage and association studies and social, legal and ethical issues. Genetic Analysis of Complex Diseases also provides: A thorough introduction to study design for the identification of genes in complex traits Comprehensive explorations of basic concepts in genetics, disease phenotype definition and the determination of the genetic components of disease Practical discussions of modern bioinformatics tools for analysis of genetic data Reflecting on responsible conduct of research in genetic studies, as well as linkage analysis and data management New expanded chapter on complex genetic interactions This latest edition of Genetic Analysis of Complex Diseases is a must-read resource for molecular biologists, human geneticists, genetic epidemiologists and pharmaceutical researchers. It is also invaluable for graduate students taking courses in statistical genetics or genetic epidemiology.
Author: National Research Council
Publisher: National Academies Press
ISBN: 0309108675
Category : Social Science
Languages : en
Pages : 429
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Book Description
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: Daniel L. Hartl
Publisher: Jones & Bartlett Learning
ISBN: 9780763715113
Category : Medical
Languages : en
Pages : 902
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Book Description
Biological Sciences
Author: Philip Mark Meneely
Publisher: Oxford University Press
ISBN: 0199681260
Category : Medical
Languages : en
Pages : 580
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Book Description
With its unique integration of genetics and molecular biology, this text probes fascinating questions that explore how our understanding of key genetic phenomena can be used to understand biological systems. Opening with a brief overview of key genetic principles, model organisms, and epigenetics, the book goes on to explore the use of gene mutations, the analysis of gene expression and activity, a discussion of the genetic structure of natural populations, and more.
Author: D.C. Rao
Publisher: Academic Press
ISBN: 0080569110
Category : Medical
Languages : en
Pages : 788
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Book Description
The field of genetics is rapidly evolving and new medical breakthroughs are occuring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. Five sections on the latest advances in complex traits Methods for testing with ethical, legal, and social implications Hot topics include discussions on systems biology approach to drug discovery; using comparative genomics for detecting human disease genes; computationally intensive challenges, and more
Author: Robert Plomin
Publisher: Macmillan
ISBN: 1429205776
Category : Psychology
Languages : en
Pages : 552
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Book Description
This book provides an overview of human and animal behavioral genetics and examines the crossroads where the fields of psychology, psychiatry, and genetics intersect.
Author: Christine Langhoff
Publisher: GRIN Verlag
ISBN: 3638195252
Category : Science
Languages : en
Pages : 12
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Book Description
Essay from the year 2002 in the subject Biology - Genetics / Gene Technology, grade: 2.1 (B), Oxford University (New College), language: English, abstract: Ultimately, the goal of genetics is the analysis of the genotype of organisms. But the genotype can be identified – and therefore studied – only through its phenotypic effect. This means that two genotypes are recognised as different from each other because the phenotypes of their carriers are different. A problem can be seen with this approach as the actual variation between organisms is usually quantitative, not qualitative. Many different genotypes may have the same average phenotype. At the same time, because of environmental variation, two individuals of the same genotype may not have the same phenotype. This lack of a one-to-one correspondence between genotype and phenotype obscures underlying Mendelian genetics. I am going to explore the use of various statistical techniques for studying quantitative traits with application to behavioural traits. I am also going to examine whether there are behavioural traits with sufficiently high heritabilities to give hope for gene searches and I am going to discuss the difficulties that confront molecular geneticists regarding psychiatric genetics.
