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genome-wide association study

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  • Perlegen was now in a position to design a DNA chip with several hundred thousand markers and begin to do genome-wide association studies (GWAS). These are essentially very dense case-control studies designed to find DNA markers important in disease. By typing the same set of markers in large numbers of cases and controls, it becomes a brute-force statistical matter of finding markers that pop up more frequently in sick people than in healthy ones. Those markers are very likely to be in or near genes that play a role in disease.

    GWAS studies have since become ho-hum. But only a few years ago, they were the new new thing.

    Misha Angrist, Here is a Human Being: At the Dawn of Personal Genomics (New York: HarperCollins, 2010), ch. 4 (Kindle loc. 1046)

    December 17, 2016