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Genetics of Complex Disease by Peter Donaldson,Ann Daly,Luca Ermini,Debra Bevitt Pdf
Genetics of Complex Disease examines how the identification of genetic variations that increase or reduce the risk of common, genetically complex, diseases can be used to improve our understanding of the pathology of many common diseases; enable better patient management and care; and help with differential diagnosis. It starts with the quest
Genetics of Complex Disease by Peter Donaldson,Ann Daly,Luca Ermini,Debra Bevitt Pdf
The Genetics of Complex Disease is a concise text for final year undergraduate and first year graduate students. Healthcare professionals and other biomedical scientists trying to come to grips with the impact of new genetics research will also find the book useful. After explaining genetic variation and defining complex diseases, the next three chapters explain how and why complex diseases are investigated (including a chapter on statistics).The text then concentrates on selected areas where there is strong evidence for the genes/alleles involved: the MHC, infectious diseases, pharmacogenetics, cancer, and diabetes. The important ethical, social, and personal consequences raised by increasing knowledge of the genetics of complex diseases are covered in a way that offers the reader the chance to think and reflect. The final chapter discusses the technology involved.
Genetics of Complex Human Diseases by Ammar Al-Chalabi,Laura Almasy Pdf
Many human diseases – including Alzheimer's disease, schizophrenia, cancer, and cardiovascular disease – have complex genetics that require sophisticated analysis. Genetics of Complex Human Diseases: A Laboratory Manual& brings together the tools that geneticists use to find disease genes with the genetic concepts and statistical theories that underpin these research approaches. Topics covered include basic genetics and Mendelian inheritance, statistical methods, genetic epidemiology, linkage studies, transmission disequilibrium test analysis, variance components analysis, genome-wide association studies, copy-number variation, methods for high-throughput genotyping, the complexity of RNA editing, and genetic computer programs. The book's chapters, written by leading investigators in the field, blend practical information and reviews of each topic, providing both the how and the why of complex disease analysis. Genetics of Complex Human Diseasesis an important guide for anyone with an interest in human genetics or who uses genetic techniques in the study of diseases with complex inheritance.
Genetic Analysis of Complex Disease by William K. Scott,Marylyn D. Ritchie Pdf
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.
The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing
Author : The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing Publisher : National Academies Press Page : 239 pages File Size : 45,6 Mb Release : 2021-01-16 Category : Medical ISBN : 9780309671132
Heritable Human Genome Editing by The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing Pdf
Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Genetics and Genomics of Eye Disease by Xiaoyi Raymond Gao Pdf
Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling
Assessing Genetic Risks by Institute of Medicine,Committee on Assessing Genetic Risks Pdf
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Genes, Chromosomes, and Disease: From Simple Traits, to Complex Traits, to Personalized Medicine by Nicholas W. Gillham Pdf
This readable overview covers the rise of medical genetics through the past century, and the eugenic impulses it has inspired. Nicholas Gillham reviews the linkages between genes and disease; ethnic groups & rsquo; differential susceptibility to genetic traits and disorders; personalized medicine; and crucial social and ethical issues arising from the field & rsquo;s progress.
Genetic Analysis of Complex Disease by Jonathan L. Haines,Margaret A. Pericak-Vance Pdf
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.
Analysis of Complex Disease Association Studies by Eleftheria Zeggini,Andrew Morris Pdf
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
National Research Council,Division of Behavioral and Social Sciences and Education,Committee on Population,Panel on Race, Ethnicity, and Health in Later Life
Author : National Research Council,Division of Behavioral and Social Sciences and Education,Committee on Population,Panel on Race, Ethnicity, and Health in Later Life Publisher : National Academies Press Page : 184 pages File Size : 43,6 Mb Release : 2004-09-08 Category : Social Science ISBN : 9780309165860
Understanding Racial and Ethnic Differences in Health in Late Life by National Research Council,Division of Behavioral and Social Sciences and Education,Committee on Population,Panel on Race, Ethnicity, and Health in Later Life Pdf
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.
Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health
Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health Publisher : National Academies Press Page : 385 pages File Size : 47,9 Mb Release : 2006-12-07 Category : Social Science ISBN : 9780309101967
Genes, Behavior, and the Social Environment by Institute of Medicine,Board on Health Sciences Policy,Committee on Assessing Interactions Among Social, Behavioral, and Genetic Factors in Health Pdf
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.
Genetic Dissection of Complex Traits by D.C. Rao,C. Charles Gu Pdf
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
Genetics and Evolution of Infectious Diseases by Michel Tibayrenc Pdf
Genetics and Evolution of Infectious Diseases is at the crossroads between two major scientific fields of the 21st century: evolutionary biology and infectious diseases. The genomic revolution has upset modern biology and has revolutionized our approach to ancient disciplines such as evolutionary studies. In particular, this revolution is profoundly changing our view on genetically driven human phenotypic diversity, and this is especially true in disease genetic susceptibility. Infectious diseases are indisputably the major challenge of medicine. When looking globally, they are the number one killer of humans and therefore the main selective pressure exerted on our species. Even in industrial countries, infectious diseases are now far less under control than 20 years ago. The first part of this book covers the main features and applications of modern technologies in the study of infectious diseases. The second part provides detailed information on a number of the key infectious diseases such as malaria, SARS, avian flu, HIV, tuberculosis, nosocomial infections and a few other pathogens that will be taken as examples to illustrate the power of modern technologies and the value of evolutionary approaches. Takes an integrated approach to infectious diseases Includes contributions from leading authorities Provides the latest developments in the field