How to Interpret a Genome-wide Association Study

Pearson, T.A. and Manolio, T.A. (2008) How to Interpret a Genome-wide Association Study. Journal of The American Medical Association, 299 (11). pp. 1335-1344.

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Genome-wide association (GWA) studies use high-throughput genotyping technologies to assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to clinical conditions and measurable traits. Since 2005, nearly 100 loci for as many as 40 common diseases and traits have been identified and replicated in GWA studies, many in genes not previously suspected of having a role in the disease under study, and some in genomic regions containing no known genes. GWA studies are an important advance in discovering genetic variants influencing disease but also have important limitations, including their potential for false-positive and false-negative results and for biases related to selection of study participants and genotyping errors. Although these studies are clearly many steps removed from actual clinical use, and specific applications of GWA findings in prevention and treatment are actively being pursued, at present these studies mainly represent a valuable discovery tool for examining genomic function and clarifying pathophysiologic mechanisms. This article describes the design, interpretation, application, and limitations of GWA studies for clinicians and scientists for whom this evolving science may have great relevance

Item Type: Article
Uncontrolled Keywords: overview of gwa studies , study designs used in gwa , selection of study participants , genotyping and quality control in gwa studies ,analysis and presentation of gwa results , replication and functional studies , limitations of gwa studies ,clinical applications of gwa findings, article information ,references
Author Affiliation: Office of Population Genomics, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland (Drs Pearson and Manolio); and Clinical and Translational Science Institute, University of Rochester Medical Center, Rochester, New York (Dr Pearson).
Subjects: Crop Improvement
Divisions: General
Depositing User: Mr Daneti Raju
Date Deposited: 09 Feb 2014 12:36
Last Modified: 09 Feb 2014 12:36
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