Genetics of Complex Traits & Diseases from Under-Represented Populations

Genetics of Complex Traits & Diseases from Under-Represented Populations PDF Author: Segun Fatumo
Publisher: Frontiers Media SA
ISBN: 2889744647
Category : Science
Languages : en
Pages : 123

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Book Description

Genetics of Complex Traits & Diseases from Under-Represented Populations

Genetics of Complex Traits & Diseases from Under-Represented Populations PDF Author: Segun Fatumo
Publisher: Frontiers Media SA
ISBN: 2889744647
Category : Science
Languages : en
Pages : 123

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Book Description


Genetic Dissection of Complex Traits

Genetic Dissection of Complex Traits PDF 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

Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309101964
Category : Social Science
Languages : en
Pages : 385

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Book Description
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.

Studying the Genetic Architecture of Complex Traits in a Population Isolate

Studying the Genetic Architecture of Complex Traits in a Population Isolate PDF Author: Anthony Francis Herzig
Publisher:
ISBN:
Category :
Languages : en
Pages : 0

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Book Description
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.

Understanding Racial and Ethnic Differences in Health in Late Life

Understanding Racial and Ethnic Differences in Health in Late Life PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309165865
Category : Social Science
Languages : en
Pages : 184

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Book Description
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.

Molecular Photofitting

Molecular Photofitting PDF Author: Tony Frudakis Ph.D.
Publisher: Elsevier
ISBN: 0080551378
Category : Law
Languages : en
Pages : 711

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Book Description
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

Biosocial Surveys

Biosocial Surveys PDF 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.

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics PDF Author: Reed E. Pyeritz
Publisher: Academic Press
ISBN: 0128126809
Category : Medical
Languages : en
Pages : 594

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Book Description
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

Systems Genetics

Systems Genetics PDF Author: Florian Markowetz
Publisher: Cambridge University Press
ISBN: 131638098X
Category : Science
Languages : en
Pages : 287

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Book Description
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.

Scientific Frontiers in Developmental Toxicology and Risk Assessment

Scientific Frontiers in Developmental Toxicology and Risk Assessment PDF Author: National Research Council
Publisher: National Academies Press
ISBN: 0309070864
Category : Nature
Languages : en
Pages : 348

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Book Description
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.