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Nat Rev Genet. 2013 Aug;14(8):549-58. doi: 10.1038/nrg3523. Epub 2013 Jul 9.

Bringing genome-wide association findings into clinical use.

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  • 1Division of Genomic Medicine, National Human Genome Research Institute, 5635 Fishers Lane, Room 4113, MSC 9305, Rockville, Maryland 20892-9305, USA.


Genome-wide association studies (GWASs) have been heralded as a major advance in biomedical discovery, having identified ~2,000 robust associations with complex diseases since 2005. Despite this success, they have met considerable scepticism regarding their clinical applicability; this scepticism arises from such aspects as the modest effect sizes of associated variants and their unclear functional consequences. There are, however, promising examples of GWAS findings that will or that may soon be translated into clinical care. These examples include variants identified through GWASs that provide strongly predictive or prognostic information or that have important pharmacological implications; these examples may illustrate promising approaches to wider clinical application.

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