Bringing genome-wide association findings into clinical use - PubMed (original) (raw)
Review
doi: 10.1038/nrg3523. Epub 2013 Jul 9.
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- PMID: 23835440
- DOI: 10.1038/nrg3523
Review
Bringing genome-wide association findings into clinical use
Teri A Manolio. Nat Rev Genet. 2013 Aug.
Abstract
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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References
- Am Heart J. 2009 Jul;158(1):105-10 - PubMed
- Arch Gen Psychiatry. 2012 Sep;69(9):904-12 - PubMed
- Diabetologia. 2011 Nov;54(11):2801-10 - PubMed
- Trends Mol Med. 2011 May;17(5):244-51 - PubMed
- JAMA. 2003 Apr 2;289(13):1681-90 - PubMed
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