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  • BBC Science Focus Magazine

    First studies from largest-ever human genome database released

    Jun 25, 2020 3 minutes

    HOW DID THE GENOME AGGREGATION DATABASE (gnomAD) PROJECT START?

    I started my lab in Boston back in 2012.

    At that time, one of the first projects we launched was to begin sequencing DNA from patients affected by severe muscle diseases, like muscular dystrophy.

    What became clear was that we desperately needed better databases of normal variation [in genomes] to make sense of the genetic changes that we were seeing in these patients. Imagine if you sequenced the DNA from a patient, and you find a new genetic change there. You need to know whether or not that is a

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