Download or read book Genetic Architecture and Evolution of Complex Traits and Diseases in Diverse Human Populations written by Mashaal Sohail and published by Frontiers Media SA. This book was released on 2022-03-31 with total page 108 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetics of Complex Traits Diseases from Under Represented Populations written by Segun Fatumo and published by Frontiers Media SA. This book was released on 2022-02-22 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Variation in the Human Genome written by Derek J. Chadwick and published by John Wiley & Sons. This book was released on 2008-04-30 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: The mapping of human genes is proceeding rapidly. Genes associated with specific inherited diseases are being identified, often providing insight into the molecular cause of the disease. At the moment, however, little consideration is being given to the variation present in different human populations. Variation in the Human Genome discusses methods of analysing population genetic data and how contemporary genetic heterogeneity arises during the evolution and migration of human populations. Specific disorders such as cystic fibrosis, beta-thalassaemia, fragile X, phenylketonuria and tumour development susceptibility are used to illustrate this genetic variability and mechanisms of gene mutation and evolution.
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 Population Genetic Analyses of Gene Expression and Complex Traits written by Emily Catherine Glassberg and published by . This book was released on 2018 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Architecture of Complex Disease in Humans written by Urko Martínez Marigorta and published by . This book was released on 2012 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: The aetiology of common diseases is shaped by the effects of genetic and environmental factors. Big efforts have been devoted to unravel the genetic basis of disease with the hope that it will help to develop new therapeutic treatments and to achieve personalized medicine. With the development of high-throughput genotyping technologies, hundreds of association studies have described many loci associated to disease. However, the depiction of disease architecture remains incomplete. The aim of this work is to perform exhaustive comparisons across human populations to evaluate pressing questions. Our results provide new insights in the allele frequency of risk variants, their sharing across populations and the likely architecture of disease.
Download or read book Leveraging Genetic Association Data to Investigate the Polygenic Architecture of Human Traits and Diseases written by YING LEONG. CHAN and published by . This book was released on 2014 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Many human traits and diseases have a polygenic architecture, where phenotype is partially determined by variation in many genes. These complex traits or diseases can be highly heritable and genome-wide association studies (GWAS) have been relatively successful in the identification of associated variants. However, these variants typically do not account for most of the heritability and thus, the genetic architecture remains uncertain.
Download or read book Computational Approaches to Understanding the Genetic Architecture of Complex Traits written by Brielin C. Brown and published by . This book was released on 2016 with total page 90 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in DNA sequencing technology have resulted in the ability to generate genetic data at costs unimaginable even ten years ago. This has resulted in a tremendous amount of data, with large studies providing genotypes of hundreds of thousands of individuals at millions of genetic locations. This rapid increase in the scale of genetic data necessitates the development of computational methods that can analyze this data rapidly without sacrificing statistical rigor. The low cost of DNA sequencing also provides an opportunity to tailor medical care to an individuals unique genetic signature. However, this type of precision medicine is limited by our understanding of how genetic variation shapes disease. Our understanding of so- called complex diseases is particularly poor, and most identified variants explain only a tiny fraction of the variance in the disease that is expected to be due to genetics. This is further complicated by the fact that most studies of complex disease go directly from genotype to phenotype, ignoring the complex biological processes that take place in between. Herein, we discuss several advances in the field of complex trait genetics. We begin with a review of computational and statistical methods for working with genotype and phenotype data, as well as a discussion of methods for analyzing RNA-seq data in effort to bridge the gap between genotype and phenotype. We then describe our methods for 1) improving power to detect common variants associated with disease, 2) determining the extent to which different world populations share similar disease genetics and 3) identifying genes which show differential expression between the two haplotypes of a single individual. Finally, we discuss opportunities for future investigation in this field.
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 Genes Behavior and the Social Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2006-12-07 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Download or read book In the Light of Evolution written by National Academy of Sciences and published by . This book was released on 2007 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Arthur M. Sackler Colloquia of the National Academy of Sciences address scientific topics of broad and current interest, cutting across the boundaries of traditional disciplines. Each year, four or five such colloquia are scheduled, typically two days in length and international in scope. Colloquia are organized by a member of the Academy, often with the assistance of an organizing committee, and feature presentations by leading scientists in the field and discussions with a hundred or more researchers with an interest in the topic. Colloquia presentations are recorded and posted on the National Academy of Sciences Sackler colloquia website and published on CD-ROM. These Colloquia are made possible by a generous gift from Mrs. Jill Sackler, in memory of her husband, Arthur M. Sackler.
Download or read book Analysis of Complex Disease Association Studies written by Eleftheria Zeggini and published by Academic Press. This book was released on 2010-11-17 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available. Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used tests Extensive list of references including links to tutorial websites Case studies and Tips and Tricks
Download or read book Evolutionary Causation written by Tobias Uller and published by MIT Press. This book was released on 2019-09-03 with total page 361 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive treatment of the concept of causation in evolutionary biology that makes clear its central role in both historical and contemporary debates. Most scientific explanations are causal. This is certainly the case in evolutionary biology, which seeks to explain the diversity of life and the adaptive fit between organisms and their surroundings. The nature of causation in evolutionary biology, however, is contentious. How causation is understood shapes the structure of evolutionary theory, and historical and contemporary debates in evolutionary biology have revolved around the nature of causation. Despite its centrality, and differing views on the subject, the major conceptual issues regarding the nature of causation in evolutionary biology are rarely addressed. This volume fills the gap, bringing together biologists and philosophers to offer a comprehensive, interdisciplinary treatment of evolutionary causation. Contributors first address biological motivations for rethinking evolutionary causation, considering the ways in which development, extra-genetic inheritance, and niche construction challenge notions of cause and process in evolution, and describing how alternative representations of evolutionary causation can shed light on a range of evolutionary problems. Contributors then analyze evolutionary causation from a philosophical perspective, considering such topics as causal entanglement, the commingling of organism and environment, and the relationship between causation and information. Contributors John A. Baker, Lynn Chiu, David I. Dayan, Renée A. Duckworth, Marcus W Feldman, Susan A. Foster, Melissa A. Graham, Heikki Helanterä, Kevin N. Laland, Armin P. Moczek, John Odling-Smee, Jun Otsuka, Massimo Pigliucci, Arnaud Pocheville, Arlin Stoltzfus, Karola Stotz, Sonia E. Sultan, Christoph Thies, Tobias Uller, Denis M. Walsh, Richard A. Watson
Download or read book Genes and Behaviour written by David J. Hosken and published by John Wiley & Sons. This book was released on 2019-04-15 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a broad snapshot of recent findings showing how the environment and genes influence behavior The great debate of nature versus nurture rages on — but our understanding of the genetic basis of many behaviors has expanded over the last decade, and there is now very good evidence showing that seemingly complex behaviours can have relatively simple genetic underpinnings, but also that most behaviours have very complicated genetic and environmental architecture. Studies have also clearly shown that behaviors, and other traits, are influenced not just by genes and the environment, but also by the statistical interaction between the two. This book aims to end the nature versus nurture argument by showing that behaviors are nature and nurture and the interaction between the two, and by illustrating how single genes can explain some of the variation in behaviors even when they are seemingly complex. Genes and Behaviour: Beyond Nature-Nurture puts to rest the nature versus nurture dichotomy, providing an up-to-date synopsis of where we are, how far we've come and where we are headed. It considers the effects of a dual-inheritance of genes and culture, and genes and social environment, and highlights how indirect genetic effects can affect the evolution of behavior. It also examines the effect of non-self genes on the behavior of hosts, shines a light on the nature and nurturing of animal minds and invites us to embrace all the complexity nature and nurture generates, and more. Explores exciting new findings about behavior and where we go from here Features contributions by top scholars of the subject Seeks to end the nature versus nurture debate forever Genes and Behaviour: Beyond Nature-Nurture is a unique, and eye-opening read that will appeal to Ph.D. Students, post-doctoral fellows, and researchers in evolution and behavior. Additionally, the book will also be of interest to geneticists, sociologists and philosophers.
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 Mathematical Population Genetics 1 written by Warren J. Ewens and published by Springer Science & Business Media. This book was released on 2004-01-09 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first of a planned two-volume work discussing the mathematical aspects of population genetics with an emphasis on evolutionary theory. This volume draws heavily from the author’s 1979 classic, but it has been revised and expanded to include recent topics which follow naturally from the treatment in the earlier edition, such as the theory of molecular population genetics.
Download or read book The Evolution of Population Biology written by Rama S. Singh and published by Cambridge University Press. This book was released on 2004-01-15 with total page 492 pages. Available in PDF, EPUB and Kindle. Book excerpt: This 2004 collection of essays deals with the foundation and historical development of population biology and its relationship to population genetics and population ecology on the one hand and to the rapidly growing fields of molecular quantitative genetics, genomics and bioinformatics on the other. Such an interdisciplinary treatment of population biology has never been attempted before. The volume is set in a historical context, but it has an up-to-date coverage of material in various related fields. The areas covered are the foundation of population biology, life history evolution and demography, density and frequency dependent selection, recent advances in quantitative genetics and bioinformatics, evolutionary case history of model organisms focusing on polymorphisms and selection, mating system evolution and evolution in the hybrid zones, and applied population biology including conservation, infectious diseases and human diversity. This is the third of three volumes published in honour of Richard Lewontin.
