By identifying regions of the human genome linked to complex traits, genome-wide association studies (GWAS) are revolutionizing how researchers investigate common diseases, such as cancer and cardiovascular disease. However, as with many great scientific breakthroughs, skeptics have questioned the usefulness of this approach and whether GWAS can provide insights into the molecular mechanisms underlying these diseases. This Select highlights recent research showing that common DNA variations identified by GWAS can indeed contribute to a disease phenotype, and investigating the function of these variants can be highly rewarding, yielding insights of both clinical and biological importance.
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