domingo, 4 de agosto de 2013

Bringing genome-wide association findings into clinical use : Nature Reviews Genetics : Nature Publishing Group

Bringing genome-wide association findings into clinical use : Nature Reviews Genetics : Nature Publishing Group

Article series: Translational genetics

Bringing genome-wide association findings into clinical use

Nature Reviews Genetics
14,
549–558
doi:10.1038/nrg3523
Published online

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.

At a glance

Figures

left
  1. Pace of genome-wide association study publications since 2005.
    Figure 1
  2. Correlations of presumed regulatory regions with signals defined from genome-wide association studies.
    Figure 2
  3. Use of odds ratios in risk prediction.
    Figure 3
  4. Reclassification of cardiovascular risk based on genotype score.
    Figure 4
  5. Risk of myopathy in chronic simvastatin use.
    Figure 5

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