50,000-Person Genomics Study Reveals Untapped Medical Potential

Results from a momentous 50,726-person genomics study were released on Thursday, with some interesting and actionable lessons that have many experts talking.

Published as two papers in Science, the research stems from the DiscovEHR project, led by researchers at the Geisinger Health System in Pennsylvania and the Regeneron Genetics Center, an off-shoot of Regeneron Pharmaceuticals.

The study combined whole-exome sequencing results with the longitudinal electronic health records (EHRs) of 50,726 individuals. The stated aim was to better understand common genetic variants, their frequency, and their link to human disease.

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