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Approaches to Gene Mapping in Complex Human Diseases

Author: Jonathan L. Haines

Publisher: Wiley-Liss

Published: 1998-10-08

Total Pages: 472

ISBN-13:

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

Author: National Research Council

Publisher: National Academies Press

Published: 1988-01-01

Total Pages: 128

ISBN-13: 0309038405

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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.

Genome Mapping and Genomics in Human and Non-Human Primates

Author: Ravindranath Duggirala

Publisher: Springer

Published: 2015-03-25

Total Pages: 305

ISBN-13: 3662463067

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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.

Genetic Analysis of Complex Disease

Author: William K. Scott

Publisher: John Wiley & Sons

Published: 2021-12-06

Total Pages: 340

ISBN-13: 1118123913

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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.

Genetic Analysis of Complex Disease

Author: Jonathan L. Haines

Publisher: John Wiley & Sons

Published: 2007-02-26

Total Pages: 507

ISBN-13: 0471781134

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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 Approaches to Noncommunicable Diseases

Author: Kare Berg

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 232

ISBN-13: 3642610285

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In recent years, the progress made in the prevention of mortality and morbidity caused by communicable diseases and malnutrition has changed the disease spectrum in both developed and, particularly developing countries. As a result, noncommunicable diseases, includ ing genetic disorders, have achieved considerable importance in public health. Furthermore, it is now evident that inherited predisposition is important in a number of common diseases that occur in later life, such as atherosclerosis, coronary heart disease, hypertension, diabetes mellitus, and in some rheumatic, oncological, and mental illnesses that appear at an early stage and develop into severe handicaps in predisposed people. Rapid advances in gene mapping concerned with international human genome research make it almost certain that the use of new genetic knowledge will dramatically increase the requirement for genetic approaches in the control of a wide spectrum of diseases, and will provide possibilities for their prevention and treatment in the form of changes in lifestyle, diet modification, periodic check-ups, or the administration of gene therapy. It appears that one of the main problems in delivering genetics services is the difficulty involved in informing the health profession and the community of the real sig nificance of genetic problems. There is, therefore, a need for international collaboration in improving genetic health education at all levels and in improving health through genetic approaches.

Calculating the Secrets of Life

Author: National Research Council

Publisher: National Academies Press

Published: 1995-04-06

Total Pages: 300

ISBN-13: 0309048869

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As researchers have pursued biology's secrets to the molecular level, mathematical and computer sciences have played an increasingly important roleâ€"in genome mapping, population genetics, and even the controversial search for "Eve," hypothetical mother of the human race. In this first-ever survey of the partnership between the two fields, leading experts look at how mathematical research and methods have made possible important discoveries in biology. The volume explores how differential geometry, topology, and differential mechanics have allowed researchers to "wind" and "unwind" DNA's double helix to understand the phenomenon of supercoiling. It explains how mathematical tools are revealing the workings of enzymes and proteins. And it describes how mathematicians are detecting echoes from the origin of life by applying stochastic and statistical theory to the study of DNA sequences. This informative and motivational book will be of interest to researchers, research administrators, and educators and students in mathematics, computer sciences, and biology.

Linkage Disequilibrium and Association Mapping

Author: Andrew R. Collins

Publisher: Springer Science & Business Media

Published: 2008-02-05

Total Pages: 529

ISBN-13: 1597453897

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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.

Statistical Methods for Gene Mapping in Complex Diseases

Author: Ingileif Bryndís Hallgrímsdóttir

Publisher:

Published: 2005

Total Pages: 368

ISBN-13:

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Statistical Methods for Family- Ased Association Studies for Complex Human Diseases: Single- Ocus and Haplotype Methods

Author:

Publisher:

Published: 2004

Total Pages:

ISBN-13:

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Disease-gene fine-mapping is an important task in human genetics. Linkage and association analyses are the two main approaches for exploring disease susceptibility genes. In Chapter 1, we introduce the development of methods for disease-gene mapping in the past decades and present the rationale behind our new method development. Family-based association analyses have provided powerful tools for disease-gene mapping. The Association in the Presence of Linkage test (APL), a family-based association method, can use nuclear families with multiple affected siblings and infer missing parental genotypes properly in the linkage region. In Chapter 2, we generalized and extended APL so that it can be applied to general nuclear family structures using a bootstrap variance estimator. Unlike the original APL that can handle at most two affected siblings, the new APL can handle up to three affected siblings. We also extended APL from a single-marker test to a multiple-marker haplotype analysis. According to our simulations, the new APL has a correct type I error rate and more power than other family-based association methods such as PDT, FBATD BAT, and PDTPHASE in nuclear families with missing parents. The robustness of APL when there are rare alleles or haplotypes and when there is population substructure such that the allele frequencies in the population deviated from the Hardy-Weinberg Equilibrium (HWE) assumption was also examined in Chapter 2. Genes on the X chromosome play a role in many common diseases. Linkage analyses have identified regions on the X chromosome with high linkage peaks for several diseases. Currently there are few family-based association methods available for X-chromosome markers. In order to fill in this gap, we proposed a novel family-based association method, X-APL, in Chapter 3. X-APL is a modification of APL and shares some important properties with APL. X-APL can also perform haplotype analyses, which is the only family-based test of associat.