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 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 Studying the Genetic Architecture of Complex Traits in a Population Isolate written by Anthony Francis Herzig and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: My thesis project is concerned with tapping the potential of population isolates for the dissection of complex trait architecture. Specifically, isolates can aid the identification of variants that are usually rare in other populations. This thesis principally contains in depth investigations into genetic imputation and heritability analysis in isolates. We approached both of these studies from two main angles; first from a methodological standpoint where we created extensive simulation datasets in order to investigate how the specificities of an isolate should determine strategies for analyses. Secondly, we demonstrated such concepts through analysis of genetic data in the known isolate of Cilento. Imputation is a crucial step to performing association analyses in an isolate and represents a cost-efficient method for gaining dense genetic data for the population. The effectiveness of imputation is of course dependent on its accuracy. Hence, we investigated the wide range of possible strategies to gain maximal imputation accuracy in an isolate. We showed that software using algorithms which specifically evoke known characteristics of isolates were, unexpectedly, not as successful as those designed for general populations. We also demonstrated a very small study specific imputation reference panel performing very strongly in an isolate; particularly for rare variants. For many complex traits, there exist discordances between estimates of heritabilities from studies in closely related individuals and from studies on unrelated individuals. In particular, we noted that most researchers consider dominant (non-additive) genetic effects as unlikely to play a significant role despite contrasting results from previous studies on isolates. Our second analysis revealed possible mechanisms to explain such disparate published heritability estimates between isolated populations and general populations. This allowed us to make interesting deductions from our own heritability analyses of the Cilento dataset, including an indication of a non-null dominance component involved in the distribution of low-density lipoprotein level measurements (LDL). This led us to perform genome-wide association analyses of additive and non-additive components for LDL in Cilento and we were able to identify genes that had been previously linked to the trait in other studies. In the contexts of both of our studies, we observed the importance of retaining genotype uncertainty (genotype dosage following imputation or genotype likelihoods from sequencing data). As a prospective of this thesis, we have proposed ways to incorporate this uncertainty into certain methods used in this project. Our findings for imputation strategies and heritability analysis will be highly valuable for the continued study of the isolate of Cilento but will also be instructive to researchers working on other isolated populations and also applicable to the study of complex diseases in general.

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 Understanding Racial and Ethnic Differences in Health in Late Life written by National Research Council and published by National Academies Press. This book was released on 2004-09-08 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: As the population of older Americans grows, it is becoming more racially and ethnically diverse. Differences in health by racial and ethnic status could be increasingly consequential for health policy and programs. Such differences are not simply a matter of education or ability to pay for health care. For instance, Asian Americans and Hispanics appear to be in better health, on a number of indicators, than White Americans, despite, on average, lower socioeconomic status. The reasons are complex, including possible roles for such factors as selective migration, risk behaviors, exposure to various stressors, patient attitudes, and geographic variation in health care. This volume, produced by a multidisciplinary panel, considers such possible explanations for racial and ethnic health differentials within an integrated framework. It provides a concise summary of available research and lays out a research agenda to address the many uncertainties in current knowledge. It recommends, for instance, looking at health differentials across the life course and deciphering the links between factors presumably producing differentials and biopsychosocial mechanisms that lead to impaired health.

Download or read book Genetics of Common Diseases written by Ian N. M. Day and published by Garland Science. This book was released on 1997 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The second half of the book ... represents a range of approaches and potential approaches to management, based on methods and principles which utilize genetic knowledge and techniques" -- p.xv.

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

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 Quantitative Genetic Methods to Dissect Heterogeneity in Complex Traits written by Tim Bernard Bigdeli and published by . This book was released on 2011 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Etiological models of complex disease are elusive[46, 33, 9], as are consistently replicable findings for major genetic susceptibility loci[54, 14, 15, 24]. Commonly-cited explanations invoke low-frequency genomic variation[41], allelic heterogeneity at susceptibility loci[33, 30], variable etiological trajectories[18, 17], and epistatic effects between multiple loci; these represent among the most methodologically-challenging issues in molecular genetic studies of complex traits. The response has been con- sistently reactionary -- hypotheses regarding the relative contributions of known functional elements, or emphasizing a greater role of rare variation[46, 33] have undergone periodic revision, driving increasingly collaborative efforts to ascertain greater numbers of participants and which assay a rapidly-expanding catalogue of human genetic variation. Major deep-sequencing initiatives, such as the 1,000 Genomes Project, are currently identifying human polymorphic sites at frequencies previously unassailable and, not ten years after publication of the first major genome-wide association findings, re-sequencing has already begun to displace GWAS as the standard for genetic analysis of complex traits. With studies of complex disease primed for an unprecedented survey of human genetic variation, it is essential that human geneticists address several prominent, problematic aspects of this research. Realizations regarding the boundaries of human traits previously considered to be effectively disparate in presentation[44, 39, 35, 27, 25, 12, 4, 13], as well as profound insight into the extent of human genetic diversity[23, 22] are not without consequence. Whereas the resolution of fine-mapping studies have undergone persistent refinement, recent polygenic findings suggest a less discriminant basis of genetic liability, raising the question of what a given, unitary association finding actually represents. Furthermore, realistic expectations regarding the pattern of findings for a particular genetic factor between or even within populations remain unclear. Of interest herein are methodologies which exploit the finite extent of genomic variability within human populations to distinguish single-point and cumulative group differences in liability to complex traits, the range of allele frequencies for which common association tests are appropriate, and the relevant dimensionality of common genetic variation within ethnically-concordant but differentially ascertained populations. Using high-density SNP genotype data, we consider both hypothesis-driven and agnostic (genome-wide) approaches to association analysis, and address specific issues pertaining to empirical significance and the statistical properties of commonly- applied tests. Lastly, we demonstrate a novel perspective of genome-wide genetic "background" through exhaustive evaluation of fundamental, stochastic genetic processes in a sample of matched affected and unaffected siblings selected from high- density schizophrenia families.

Download or read book Molecular Photofitting written by Tony Frudakis Ph.D. and published by Elsevier. This book was released on 2010-07-19 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the field of forensics, there is a critical need for genetic tests that can function in a predictive or inferential sense, before suspects have been identified, and/or for crimes for which DNA evidence exists but eye-witnesses do not. Molecular Photofitting fills this need by describing the process of generating a physical description of an individual from the analysis of his or her DNA. The molecular photofitting process has been used to assist with the identification of remains and to guide criminal investigations toward certain individuals within the sphere of prior suspects. Molecular Photofitting provides an accessible roadmap for both the forensic scientist hoping to make use of the new tests becoming available, and for the human genetic researcher working to discover the panels of markers that comprise these tests. By implementing population structure as a practical forensics and clinical genomics tool, Molecular Photofitting serves to redefine the way science and history look at ancestry and genetics, and shows how these tools can be used to maximize the efficacy of our criminal justice system. - Explains how physical descriptions of individuals can be generated using only their DNA - Contains case studies that show how this new forensic technology is used in practical application - Includes over 100 diagrams, tables, and photos to illustrate and outline complex concepts

Download or read book The Ovary written by Peter C.K. Leung and published by Academic Press. This book was released on 2018-09-10 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Ovary, Third Edition, includes more than 60% new material that highlights the clinical aspects of human ovarian functions. It covers advances in the areas of genomics, assisted reproductive technology, and cancer diagnosis and treatment. This updated edition synthesizes new information at the molecular, cellular and organismal levels, while also presenting modern ovarian physiology in a more understandable and comparative context. The book looks at ovarian function from a detailed molecular and cellular level that examines all phases of the ovarian lifecycle that places special emphasis on the pathophysiology of the human ovary, including ovarian carcinogenesis. Represents an unparalleled compilation of chapters that are relevant to contemporary ovarian physiology Provides basic and clinical research on ovarian function, abnormalities, assisted reproductive technology, and cancer Highlights contemporary strategies and treatment paradigms in female factor infertility

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 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 Genetic Diseases of the Kidney written by Richard P. Lifton and published by Academic Press. This book was released on 2009-02-25 with total page 895 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease. - Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics - Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes - World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

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 Economic Evaluation in Genomic Medicine written by Vasilios Fragoulakis and published by Academic Press. This book was released on 2015-03-20 with total page 174 pages. Available in PDF, EPUB and Kindle. Book excerpt: Economic Evaluation in Genomic Medicine introduces health economics and economic evaluation to genomic clinicians and researchers, while also introducing the topic to health economists. Each chapter includes an executive summary, questions, and case studies, along with supplementary online materials, including process guides, maps, flow charts, diagrams, and economic evaluation spreadsheets to enhance the learning process. The text can easily be used as course material for related graduate and undergraduate courses, providing a succinct overview of the existing, state-of-the-art application of economic evaluation to genomic healthcare and precision medicine. - Interrelates economic evaluation and genomic medicine - Instructs healthcare professionals and bioscientists about economic evaluation in genomic medicine - Teaches health economists about application of economic evaluation in genomic medicine - Introduces health economics and economic evaluation to clinicians and researchers involved in genomics - Includes process guides, maps, flow charts and diagrams

Download or read book Critical Perspectives on Racial and Ethnic Differences in Health in Late Life written by National Research Council and published by National Academies Press. This book was released on 2004-10-16 with total page 753 pages. Available in PDF, EPUB and Kindle. Book excerpt: In their later years, Americans of different racial and ethnic backgrounds are not in equally good-or equally poor-health. There is wide variation, but on average older Whites are healthier than older Blacks and tend to outlive them. But Whites tend to be in poorer health than Hispanics and Asian Americans. This volume documents the differentials and considers possible explanations. Selection processes play a role: selective migration, for instance, or selective survival to advanced ages. Health differentials originate early in life, possibly even before birth, and are affected by events and experiences throughout the life course. Differences in socioeconomic status, risk behavior, social relations, and health care all play a role. Separate chapters consider the contribution of such factors and the biopsychosocial mechanisms that link them to health. This volume provides the empirical evidence for the research agenda provided in the separate report of the Panel on Race, Ethnicity, and Health in Later Life.