Approaches to Gene Mapping in Complex Human Diseases


Book Description

Overview of mapping common and genetically complex human disease traits (J. L. Haines, M. A. Pericak-Vance). Basic concepts in genetics (M. C. Speer). Defining disease phenotypes (A. S. Aylsworth). Basic concepts in linkage analysis ( M. A. Pericak-Vance). Determining the genetic component of a disease (L. A. Farrer, L. A. Cupples). Patient and family participation in genetic research studies (P. E. Cohen, C. Wolpert). Sample size and power (M. C. Speer). The collection of biological samples for DNA analysis (J. M. Vance). Methods of genotyping (J. M. Vance, K. B. Othmane). Database design for gene mapping studies (C. Haynes, C. Blach). Genomic screening (J. L. Haines). Lod score analysis (J. Xu, D. A. Meyers, M. A. Pericak-Vance). Sib pair analysis (D. E. Goldgar). Affected relative pair analysis (J. L. Haines). Linkage disequilibrium and allelic association (M. A. Pericak-Vance). Using public databases (J. L. Haines). Laboratory approaches toward gene identification (D. A. Marchuk). Examining complex genetic interactions (J. M. Schildkraut). Glossary. Appendix: useful websites for genetic analysis. Index.




Mapping and Sequencing the Human Genome


Book Description

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.




Heritable Human Genome Editing


Book Description

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.




The Science of Health Disparities Research


Book Description

Integrates the various disciplines of the science of health disparities in one comprehensive volume The Science of Health Disparities Research is an indispensable source of up-to-date information on clinical and translational health disparities science. Building upon the advances in health disparities research over the past decade, this authoritative volume informs policies and practices addressing the diseases, disorders, and gaps in health outcomes that are more prevalent in minority populations and socially disadvantaged communities. Contributions by recognized scholars and leaders in the field—featuring contemporary research, conceptual models, and a broad range of scientific perspectives—provide an interdisciplinary approach to reducing inequalities in population health, encouraging community engagement in the research process, and promoting social justice. In-depth chapters help readers better understand the specifics of minority health and health disparities while demonstrating the importance of advancing theory, refining measurement, improving investigative methods, and diversifying scientific research. In 26 chapters, the book examines topics including the etiology of health disparities research, the determinants of population health, research ethics, and research in African American, Asians, Latino, American Indian, and other vulnerable populations. Providing a unified framework on the principles and applications of the science of health disparities research, this important volume: Defines the field of health disparities science and suggests new directions in scholarship and research Explains basic definitions, principles, and concepts for identifying, understanding and addressing health disparities Provides guidance on both conducting health disparities research and translating the results Examines how social, historical and contemporary injustices may influence the health of racial and ethnic minorities Illustrates the increasing national and global importance of addressing health disparities Discusses population health training, capacity-building, and the transdisciplinary tools needed to advance health equity A significant contribution to the field, The Science of Health Disparities Research is an essential resource for students and basic and clinical researchers in genetics, population genetics, and public health, health care policymakers, and epidemiologists, medical students, and clinicians, particularly those working with minority, vulnerable, or underserved populations.




Statistical Genetics


Book Description

Statistical Genetics is an advanced textbook focusing on conducting genome-wide linkage and association analysis in order to identify the genes responsible for complex behaviors and diseases. Starting with an introductory section on statistics and quantitative genetics, it covers both established and new methodologies, providing the genetic and statistical theory on which they are based. Each chapter is written by leading researchers, who give the reader the benefit of their experience with worked examples, study design, and sources of error. The text can be used in conjunction with an associated website (www.genemapping.org) that provides supplementary material and links to downloadable software.




Linkage Disequilibrium and Association Mapping


Book Description

As researchers continue to make enormous progress in mapping disease genes, exciting, novel, and complex analyses have emerged. In this book, scientists from around the world, who are leaders in this field, contribute their vast experience and expertise to produce a comprehensive and fascinating text for researchers and clinicians alike. They provide cutting-edge analysis of the most up-to-date and preeminent information available.




Network Medicine


Book Description

Big data, genomics, and quantitative approaches to network-based analysis are combining to advance the frontiers of medicine as never before. Network Medicine introduces this rapidly evolving field of medical research, which promises to revolutionize the diagnosis and treatment of human diseases. With contributions from leading experts that highlight the necessity of a team-based approach in network medicine, this definitive volume provides readers with a state-of-the-art synthesis of the progress being made and the challenges that remain. Medical researchers have long sought to identify single molecular defects that cause diseases, with the goal of developing silver-bullet therapies to treat them. But this paradigm overlooks the inherent complexity of human diseases and has often led to treatments that are inadequate or fraught with adverse side effects. Rather than trying to force disease pathogenesis into a reductionist model, network medicine embraces the complexity of multiple influences on disease and relies on many different types of networks: from the cellular-molecular level of protein-protein interactions to correlational studies of gene expression in biological samples. The authors offer a systematic approach to understanding complex diseases while explaining network medicine’s unique features, including the application of modern genomics technologies, biostatistics and bioinformatics, and dynamic systems analysis of complex molecular networks in an integrative context. By developing techniques and technologies that comprehensively assess genetic variation, cellular metabolism, and protein function, network medicine is opening up new vistas for uncovering causes and identifying cures of disease.




Genetic Analysis of Complex Disease


Book Description

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.




Genetic Dissection of Complex Traits


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




Handbook of Statistical Genomics


Book Description

A timely update of a highly popular handbook on statistical genomics This new, two-volume edition of a classic text provides a thorough introduction to statistical genomics, a vital resource for advanced graduate students, early-career researchers and new entrants to the field. It introduces new and updated information on developments that have occurred since the 3rd edition. Widely regarded as the reference work in the field, it features new chapters focusing on statistical aspects of data generated by new sequencing technologies, including sequence-based functional assays. It expands on previous coverage of the many processes between genotype and phenotype, including gene expression and epigenetics, as well as metabolomics. It also examines population genetics and evolutionary models and inference, with new chapters on the multi-species coalescent, admixture and ancient DNA, as well as genetic association studies including causal analyses and variant interpretation. The Handbook of Statistical Genomics focuses on explaining the main ideas, analysis methods and algorithms, citing key recent and historic literature for further details and references. It also includes a glossary of terms, acronyms and abbreviations, and features extensive cross-referencing between chapters, tying the different areas together. With heavy use of up-to-date examples and references to web-based resources, this continues to be a must-have reference in a vital area of research. Provides much-needed, timely coverage of new developments in this expanding area of study Numerous, brand new chapters, for example covering bacterial genomics, microbiome and metagenomics Detailed coverage of application areas, with chapters on plant breeding, conservation and forensic genetics Extensive coverage of human genetic epidemiology, including ethical aspects Edited by one of the leading experts in the field along with rising stars as his co-editors Chapter authors are world-renowned experts in the field, and newly emerging leaders. The Handbook of Statistical Genomics is an excellent introductory text for advanced graduate students and early-career researchers involved in statistical genetics.