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Human Genome Epidemiology, 2nd EditionBuilding the evidence for using genetic information to improve health and prevent disease$
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Muin Khoury, Sara Bedrosian, Marta Gwinn, Julian Higgins, John Ioannidis, and Julian Little

Print publication date: 2009

Print ISBN-13: 9780195398441

Published to Oxford Scholarship Online: May 2010

DOI: 10.1093/acprof:oso/9780195398441.001.0001

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Design and analysis issues in genome-wide association studies

Design and analysis issues in genome-wide association studies

(p.136) 8 Design and analysis issues in genome-wide association studies
Human Genome Epidemiology, 2nd Edition

Duncan C. Thomas

Oxford University Press

The recent availability of commercial high-density genotyping technologies, combined with the identification of subsets of single nucleotide polymorphisms (SNPs) that are capable of “tagging” most of the common variants in the human genome from the HapMap project, has now made it feasible to conduct genome-wide association studies (GWAS). There have now been quite a few reviews of the general principles of the design and analysis of GWAS. This chapter focuses on some of the basic issues of multistage sampling design as they have been developed for this purpose, and some of the associated analysis issues.

Keywords:   genome-wide association studies, study design, methodology

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