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Analysis of Complex Disease Association Studies

Analysis of Complex Disease Association Studies
Author: Eleftheria Zeggini
Publisher: Academic Press
Total Pages: 353
Release: 2010-11-17
Genre: Medical
ISBN: 0123751438

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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


Genetic Analysis of Complex Disease

Genetic Analysis of Complex Disease
Author: William K. Scott
Publisher: John Wiley & Sons
Total Pages: 340
Release: 2021-11-11
Genre: Science
ISBN: 1119104076

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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 Association Studies

Genetic Association Studies
Author: Mehmet Tevfik Dorak
Publisher: Garland Science
Total Pages: 331
Release: 2016-09-26
Genre: Science
ISBN: 1351806424

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Genetic Association Studies is designed for students of public health, epidemiology, and the health sciecnes, covering the main principles of molecular genetics, population genetics, medical genetics, epidemiology and statistics. It presents a balanced view of genetic associations with coverage of candidate gene studies as well as genome-wide association studies. All aspects of a genetic association study are included, from the lab to analysis and interpretation of results, but also bioinformatics approaches to causality assessment. The role of the environment in genetic disease is also highlighted. Genetic Association Studies will enable readers to understand and critique genetic association studies and set them on the way to designing, executing, analyzing, interpreting, and reporting their own.


Linkage Disequilibrium and Association Mapping

Linkage Disequilibrium and Association Mapping
Author: Andrew R. Collins
Publisher: Springer Science & Business Media
Total Pages: 529
Release: 2008-02-05
Genre: Medical
ISBN: 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.


Genetics of Complex Disease

Genetics of Complex Disease
Author: Peter Donaldson
Publisher: Garland Science
Total Pages: 450
Release: 2015-08-25
Genre: Medical
ISBN: 1317334256

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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


Analysis of Genetic Association Studies

Analysis of Genetic Association Studies
Author: Gang Zheng
Publisher: Springer Science & Business Media
Total Pages: 419
Release: 2012-01-10
Genre: Mathematics
ISBN: 1461422442

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Analysis of Genetic Association Studies is both a graduate level textbook in statistical genetics and genetic epidemiology, and a reference book for the analysis of genetic association studies. Students, researchers, and professionals will find the topics introduced in Analysis of Genetic Association Studies particularly relevant. The book is applicable to the study of statistics, biostatistics, genetics and genetic epidemiology. In addition to providing derivations, the book uses real examples and simulations to illustrate step-by-step applications. Introductory chapters on probability and genetic epidemiology terminology provide the reader with necessary background knowledge. The organization of this work allows for both casual reference and close study.


Genetic Analysis of Complex Disease

Genetic Analysis of Complex Disease
Author: Jonathan L. Haines
Publisher: Wiley-Liss
Total Pages: 516
Release: 2006-05-05
Genre: Medical
ISBN:

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Provides a comprehensive introduction to the various strategies, designs, and methods of analysis for the study of human genetic disease. It offers a broad-based understanding of the problems and solutions based on successful applications in the design and execution of gene mapping projects. Chapters present clear and easily referenced overviews of the broad range of considerations involved in genetic analysis of human genetic disease, including design, sampling, data collection, linkage and association studies, and social, legal, and ethical issues. Incorporating all new discussion questions and practical examples within each chapter, the book significantly updates treatment of bioinformatics, multiple comparisons, sample size requirements, parametric linkage analysis, case-control and family based approaches, and genomic screening. It covers new methods for analysis of gene-gene and gene-environmental interactions, and features a complete rewrite of the chapter on determining genetic components of disease.


Genetic Dissection of Complex Traits

Genetic Dissection of Complex Traits
Author: D.C. Rao
Publisher: Academic Press
Total Pages: 788
Release: 2008-04-23
Genre: Medical
ISBN: 0080569110

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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


Computational Analyses of Complex Diseases at the Gene and Network Levels

Computational Analyses of Complex Diseases at the Gene and Network Levels
Author: Benjamin Christopher Lehne
Publisher:
Total Pages: 488
Release: 2012
Genre: Crohn's disease
ISBN:

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In this thesis I show how the integration of different bio-molecular datasets can generate a better understanding of complex disease and provide a mechanistic view of the underlying molecular processes. Genome-wide association studies (GWAS) proved successful in the identification of sequence variants associated with complex diseases. However, the necessity to apply stringent thresholds to ensure genome-wide significance suggests many associated variants might be missed. To incorporate variants with "suggestive" association signals I analysed GWAS data from the Wellcome Trust Case Control Consortium and prior bio-molecular knowledge from large-scale datasets. GWAS report association for Single Nucleotide Polymorphisms (SNPs), whereas prior bio-molecular knowledge is usually derived from evidence based on proteins or genes. To integrate the different types of data, I developed the methodology to combine multiple association signals into a gene-wide measure of association. I demonstrate that the approach performs considerably better than expected by chance. Based on these results I performed a network level analysis of GWAS data to identify the molecular mechanisms underlying complex disease. Within a comprehensive Protein Interaction Network (PIN) I identified sub-networks that are significantly enriched for genes that indicate association. The identified sub-networks confirm pathways previously implicated with disease processes, but also suggest the involvement of previously unknown disease-causing genes. To validate these findings, candidate genes were re-sequenced in Crohn's disease cases and healthy controls as part of a targeted re-sequencing project. -- The methodology innovated in this thesis can identify genes implicated in the disease process based on "suggestive" association signals. These might account for a substantial fraction of the missing heritability in complex diseases.


Genome-Wide Association Studies

Genome-Wide Association Studies
Author: Krishnarao Appasani
Publisher: Cambridge University Press
Total Pages: 449
Release: 2016-01-14
Genre: Medical
ISBN: 1107042763

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Experts from academia and industry highlight the potential of genome-wide association studies from basic science to clinical and biotechnological/pharmaceutical applications.