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 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 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 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 Systems Analysis of Human Multigene Disorders written by Natalia Maltsev and published by Springer Science & Business Media. This book was released on 2013-11-29 with total page 134 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors. This integrative approach holds the promise of unveiling yet unexplored levels of molecular organization and biological complexity. It may also hold the key to deciphering the multigene patterns of disease inheritance.
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 Variation in the Human Genome written by Derek Chadwick and published by John Wiley & Sons. This book was released on 1996-06-14 with total page 352 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 Genome Mapping and Genomics in Human and Non Human Primates written by Ravindranath Duggirala and published by Springer. This book was released on 2015-03-25 with total page 305 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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 Exploring the Genetic Architecture of Complex Diseases written by Diana Chang and published by . This book was released on 2014 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past decade, the number of genome-wide association studies (GWAS) carried out has increased exponentially. These studies, mostly by investigating single nucleotide polymorphisms (SNPs), have discovered thousands of new loci associated to numerous complex diseases and traits, such as Crohn's Disease, Type-1 and Type-2 diabetes, height and body mass index. Unfortunately, there are several limitations to current GWAS. Firstly these newly discovered associations fail to explain all of the observed phenotypic variability attributed to genetic sources. This issue of missing heritability can be attributed to multiple sources such as rare variants, epigenetics and gene-gene interactions. Secondly, the majority of GWAS have not investigated the contribution of the sex chromosomes to complex disease. And thirdly, though comorbidity studies have well-established the overlap between some diseases, many initial GWAS focused on single phenotypes, and are only recently investigating the genetic overlap between various complex diseases (and traits). Here, we investigate and extend various aspects of GWAS to address these issues. First, we investigate the implication of rare or low frequency causal variants (SNPs with a minor allele frequency
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 Between the Lines of Genetic Code written by Marylyn D. Ritchie and published by Elsevier Inc. Chapters. This book was released on 2013-09-28 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gene–gene interactions are a critical component of the genetic architecture of complex, human traits. Unfortunately, the detection and characterization of interactions is a challenge. This is due to a number of factors including the combinatorial explosion of possible interactions in large-scale genomic data, limited power in small sample sizes, and potential difficulty interpreting or validating the resulting interaction models. A number of data mining methods have been developed to deal with one or more of these challenges. In this chapter, we discuss the importance of looking for gene–gene interactions as well as some of the challenges facing this type of analysis. Additionally, we review the alternative analytic approaches being considered to improve our ability to detect and model gene–gene interactions. Finally, we conclude with the future directions of interaction analysis.
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 MicroRNAs in Diseases and Disorders written by Philip V Peplow and published by Royal Society of Chemistry. This book was released on 2019-05-07 with total page 500 pages. Available in PDF, EPUB and Kindle. Book excerpt: From pathology to treatment, MicroRNAs in Diseases and Disorders highlights the role of microRNAs (miRNAs) in the development and progression of a variety of diseases, including cancer, neurological disease, endocrine disease and autoimmune disease, and underscores the utilization of miRNA targets in the treatment of these conditions. Providing a comprehensive account, this book also includes the identification of miRNAs as diagnostic and prognostic biomarkers for disease, as well as evaluates translational value from clinical trials using synthesized and functionalized miRNA mimics and inhibitors. With a global contribution list and chapters from leading experts across the field, MicroRNAs in Diseases and Disorders is an invaluable reference to miRNA researchers and health professionals in a variety of disease areas in government, academia and industry. The book will also appeal to pharmaceutical and medicinal chemists with an interest in miRNA targeting therapeutics, as well as to advanced students in chemical biology and drug discovery.
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 Integrating Genes Function and Phenotype to Dissect the Genetic Architecture of Complex Diseases written by and published by . This book was released on 2014 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our study provides unique insights into the genetic susceptibility to melanoma and colonic diseases and demonstrates the successful incorporation of context in GWAS to elucidate complex disease genetics and biology. These findings will guide future studies aimed at identifying susceptibility genes for complex diseases.
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.
