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Genome-wide association studies: a primer

Published online by Cambridge University Press:  09 November 2009

A. Corvin
Department of Psychiatry, Trinity College Dublin, Dublin, Ireland
N. Craddock
Department of Psychological Medicine, School of Medicine, Cardiff, UK
P. F. Sullivan*
Department of Genetics, University of North Carolina at Chapel Hill, NC, USA
*Address for correspondence: P. F. Sullivan, M.D., FRANZCP, Department of Genetics, CB#7264, 4109D Neurosciences Research Building, University of North Carolina, Chapel Hill, NC27599-7264, USA. (Email:


There have been nearly 400 genome-wide association studies (GWAS) published since 2005. The GWAS approach has been exceptionally successful in identifying common genetic variants that predispose to a variety of complex human diseases and biochemical and anthropometric traits. Although this approach is relatively new, there are many excellent reviews of different aspects of the GWAS method. Here, we provide a primer, an annotated overview of the GWAS method with particular reference to psychiatric genetics. We dissect the GWAS methodology into its components and provide a brief description with citations and links to reviews that cover the topic in detail.

Review Article
Copyright © Cambridge University Press 2009

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