Analysis of Complex Disease Association Studies

Analysis of Complex Disease Association Studies

A Practical Guide

1st Edition - October 20, 2010

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  • Editors: Eleftheria Zeggini, Andrew Morris
  • eBook ISBN: 9780123751430
  • Hardcover ISBN: 9780123751423

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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.

Key Features

  • 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


Geneticists, biologists, epidemiologists, and biostatisticians moving into the field of complex disease genetics who do not have formal statistical training, or previous experience of analysing similar data; biostatistics, statistical genetics, and advanced human genetics students; drug company biostatisticians

Table of Contents

  • Chapter 1 Genetic architecture of complex disease
    Chapter 2 Population genetics and linkage disequilibrium
    Chapter 3 Genetic association study design
    Chapter 4 Selection of SNPs
    Chapter 5 Genotype calling
    Chapter 6 Data handling
    Chapter 7 Data quality control
    Chapter 8 Single-locus tests of association for population-based studies
    Chapter 9 Population structure
    Chapter 10 Haplotype-based methods
    Chapter 11 Interaction analyses
    Chapter 12 Copy number variant analysis
    Chapter 13 Analysis of family-based association studies
    Chapter 14 Bioinformatics approaches
    Chapter 15 Interpreting association signals
    Chapter 16 Delineating association signals
    Chapter 17 Case study: obesity
    Chapter 18 Case study: rheumatoid arthritis

Product details

  • No. of pages: 340
  • Language: English
  • Copyright: © Academic Press 2010
  • Published: October 20, 2010
  • Imprint: Academic Press
  • eBook ISBN: 9780123751430
  • Hardcover ISBN: 9780123751423

About the Editors

Eleftheria Zeggini

Affiliations and Expertise

Wellcome Trust Sanger Institute, Hinxton, UK

Andrew Morris

Affiliations and Expertise

Wellcome Trust Centre for Human Genetics, University of Oxford, UK

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