期刊
NATURE REVIEWS GENETICS
卷 14, 期 8, 页码 549-558出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3523
关键词
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Genome-wide association studies (GWASs) have been heralded as a major advance in biomedical discovery, having identified similar to 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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