PerspectiveHuman Genetics

GTEx detects genetic effects

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Science  08 May 2015:
Vol. 348, Issue 6235, pp. 640-641
DOI: 10.1126/science.aab3002

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Summary

One of the lessons from the past several years of genomic analysis is that well-conceived, ambitious, and thoughtfully analyzed genetic studies carried out by large consortia can advance the field in giant leaps. They do so both by providing new insight and by generating data sets that are widely accessible to all investigators. It is thus remarkable that, even though we now know that the vast majority of common polymorphisms (variants of a particular DNA sequence) that are associated with disease risk act by modulating gene expression, “big science” transcription analyses have been lacking. This deficit is now addressed with the publication of the first results from the Genotype-Tissue Expression (GTEx) Consortium (1), which also includes the findings of Melé et al. (2) and Rivas et al. (3), on pages 648, 660, and 665, respectively, in this issue.