Download or read book Quantitative genetics and complex trait analysis in humans the genetic basis of complex diseases written by Christine Langhoff and published by GRIN Verlag. This book was released on 2003-06-07 with total page 12 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetics and Analysis of Quantitative Traits written by Michael Lynch and published by Sinauer Associates Incorporated. This book was released on 1998-01 with total page 980 pages. Available in PDF, EPUB and Kindle. Book excerpt: Professors Lynch and Walsh bring together the diverse array of theoretical and empirical applications of quantitative genetics in a work that is comprehensive and accessible to anyone with a rudimentary understanding of statistics and genetics.
Download or read book Genetic Analysis of Complex Disease written by William K. Scott and published by John Wiley & Sons. This book was released on 2021-12-06 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Analysis of Complex Disease written by Jonathan L. Haines and published by John Wiley & Sons. This book was released on 2007-02-26 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Dissection of Complex Traits written by D.C. Rao and published by Academic Press. This book was released on 2008-04-23 with total page 788 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Methods for the Quantitative Characterization of the Genetic Basis of Human Complex Traits written by Kathryn Burch and published by . This book was released on 2021 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: A major finding from the last decade of genome-wide association studies (GWAS) is that variant-phenotype associations are significantly enriched in noncoding regulatory regions of the genome. This result suggests that GWAS associations localize variants that modulate phenotype via gene regulation as opposed to alterations in protein structure/function. However, for most complex traits, most aspects of genetic architecture-the number of causal variants/genes for a trait and the degree to which causal effect sizes are coupled with genomic features such as minor allele frequency (MAF) and linkage disequilibrium (LD)-remain actively debated. In this dissertation, I introduce three new methods to explore and quantitatively characterize complex-trait genetic architecture. First, I derive an unbiased estimator of genome-wide SNP-heritability under a very general random effects model that makes minimal assumptions on the underlying (unknown) genetic architecture of the trait. Second, I introduce a method for estimating the number of causal variants that are shared between two ancestral populations for a given trait, and I discuss the implications of the method and real-data results for improving polygenic risk prediction in ethnic minority populations. Third, I propose methods for partitioning the heritability of individual genes by MAF to identify disease-relevant genes, with the hypothesis that some disease-relevant genes may have relatively large heritability contributions from rare and low-frequency variants while still having low total gene-level heritability.
Download or read book Genetic Dissection of Complex Traits written by D. C. Rao and published by Academic Press. This book was released on 2001 with total page 632 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Dissection of Complex Traits will present the full range of methodologies that are essential for understanding the basis of human genetic disorders, the origin of such diseases, and theories on how to determine one's genetic predisposition to certain genetic diseases.
Download or read book Computational Genetics and Genomics written by Gary Peltz and published by Springer Science & Business Media. This book was released on 2007-11-05 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ultimately, the quality of the tools available for genetic analysis and experimental disease models will be assessed on the basis of whether they provide new information that generates novel treatments for human disease. In addition, the time frame in which genetic discoveries impact clinical practice is also an important dimension of how society assesses the results of the significant public financial investment in genetic research. Because of the investment and the increased expectation that new tre- ments will be found for common diseases, allowing decades to pass before basic discoveries are made and translated into new therapies is no longer acceptable. Computational Genetics and Genomics: Tools for Understanding Disease provides an overview and assessment of currently available and developing tools for genetic analysis. It is hoped that these new tools can be used to identify the genetic basis for susceptibility to disease. Although this very broad topic is addressed in many other books and journal articles, Computational Genetics and Genomics: Tools for Understanding Disease focuses on methods used for analyzing mouse genetic models of biomedically - portant traits. This volume aims to demonstrate that commonly used inbred mouse strains can be used to model virtually all human disea- related traits. Importantly, recently developed computational tools will enable the genetic basis for differences in disease-related traits to be rapidly identified using these inbred mouse strains. On average, a decade is required to carry out the development process required to demonstrate that a new disease treatment is beneficial.
Download or read book Biosocial Surveys written by National Research Council and published by National Academies Press. This book was released on 2008-01-06 with total page 429 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Deciphering the Genetic Basis for Complex Trait Variation written by Scott A. Funkhouser and published by . This book was released on 2019 with total page 119 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within any population, complex trait variation can be attributed to an impressive number of genetic factors. Identification of such factors has been made possible, in part, by large biomedical datasets comprised of genotypes and phenotypes for hundreds of thousands of individuals. Furthermore, understanding the biological mechanisms through which genetic variation creates complex trait variation has been facilitated by high-throughput sequencing technology, used to quantify molecular, intermediate phenotypes. Despite such datasets being widely available, we lack understanding of the full spectrum of genetic effects, including gene-by-sex (GxS) interactions. We also have yet to uncover various molecular phenotypes that may "link" genetic variation to complex trait variation. To address these gaps in knowledge, the following chapters will 1) develop and utilize statistical methodology for mapping GxS interactions among human traits, and 2) utilize a pig model to characterize RNA editing-a relatively understudied form of transcriptional regulation- and evaluate its potential to link genetic variation with complex trait variation.Growing evidence from genome-wide parameter estimates suggest males and females from human populations possess differing genetic architectures. Despite this, mapping GxS interactions remains challenging, suggesting that the magnitude of a typical GxS interaction is exceedingly small. We have developed a local Bayesian regression (LBR) approach to estimate sex-specific single nucleotide polymorphism (SNP) marker effects after fully accounting for local linkage-disequilibrium (LD) patterns. This provided means to infer GxS interactions either at the SNP level, or by aggregating multiple sex-specific SNP effects to make inferences at the level of small, LD-based regions. In simulations, LBR provided greater power and resolution to detect GxS interactions than the traditional approach to genome-wide association (GWA), single-marker regression (SMR).When using LBR to analyze human traits from the UK Biobank (N ∼ 250,000) including height, BMI, bone-mineral density, and waist-to-hip ratio, we find evidence of novel GxS interactions where sex-specific effects explain a very small proportion of phenotypic variance (R2
Download or read book Scientific Frontiers in Developmental Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2000-12-21 with total page 348 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Linkage Disequilibrium and Association Mapping written by Andrew R. Collins and published by Springer Science & Business Media. This book was released on 2008-02-05 with total page 529 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genomics of Disease written by J.P. Gustafson and published by Springer Science & Business Media. This book was released on 2008-02-12 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: This title develops from the 24th Stadler symposium. It explores the general theme "GENOME EXPLOITATION: Data Mining the Genomes". The idea behind the theme is to discuss and illustrate how scientists are going to characterize and make use of the massive amount of information being accumulated about plant and animal genomes. The book presents a state-of-the-art picture on mining the Genome databases. Its chapters are authored by key stars in the field.
Download or read book Evolution and Selection of Quantitative Traits written by Bruce Walsh and published by Oxford University Press. This book was released on 2018-06-21 with total page 1504 pages. Available in PDF, EPUB and Kindle. Book excerpt: Quantitative traits-be they morphological or physiological characters, aspects of behavior, or genome-level features such as the amount of RNA or protein expression for a specific gene-usually show considerable variation within and among populations. Quantitative genetics, also referred to as the genetics of complex traits, is the study of such characters and is based on mathematical models of evolution in which many genes influence the trait and in which non-genetic factors may also be important. Evolution and Selection of Quantitative Traits presents a holistic treatment of the subject, showing the interplay between theory and data with extensive discussions on statistical issues relating to the estimation of the biologically relevant parameters for these models. Quantitative genetics is viewed as the bridge between complex mathematical models of trait evolution and real-world data, and the authors have clearly framed their treatment as such. This is the second volume in a planned trilogy that summarizes the modern field of quantitative genetics, informed by empirical observations from wide-ranging fields (agriculture, evolution, ecology, and human biology) as well as population genetics, statistical theory, mathematical modeling, genetics, and genomics. Whilst volume 1 (1998) dealt with the genetics of such traits, the main focus of volume 2 is on their evolution, with a special emphasis on detecting selection (ranging from the use of genomic and historical data through to ecological field data) and examining its consequences.
Download or read book Bioinformatics for Geneticists written by Michael R. Barnes and published by John Wiley & Sons. This book was released on 2003-07-01 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: This timely book illustrates the value of bioinformatics, not simply as a set of tools but rather as a science increasingly essential to navigate and manage the host of information generated by genomics and the availability of completely sequenced genomes. Bioinformatics can be used at all stages of genetics research: to improve study design, to assist in candidate gene identification, to aid data interpretation and management and to shed light on the molecular pathology of disease-causing mutations. Written specifically for geneticists, this book explains the relevance of bioinformatics showing how it may be used to enhance genetic data mining and markedly improve genetic analysis.
Download or read book Systems Genetics written by Florian Markowetz and published by Cambridge University Press. This book was released on 2015-07-02 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: Whereas genetic studies have traditionally focused on explaining heritance of single traits and their phenotypes, recent technological advances have made it possible to comprehensively dissect the genetic architecture of complex traits and quantify how genes interact to shape phenotypes. This exciting new area has been termed systems genetics and is born out of a synthesis of multiple fields, integrating a range of approaches and exploiting our increased ability to obtain quantitative and detailed measurements on a broad spectrum of phenotypes. Gathering the contributions of leading scientists, both computational and experimental, this book shows how experimental perturbations can help us to understand the link between genotype and phenotype. A snapshot of current research activity and state-of-the-art approaches to systems genetics are provided, including work from model organisms such as Saccharomyces cerevisiae and Drosophila melanogaster, as well as from human studies.
Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2019-09-04 with total page 594 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. Offers pathways for diagnosis, prevention and disease management Includes color images supporting identification, concept illustration and method processing Features contributions by leading international researchers and practitioners of medical genetics
