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 E-Mail SEATTLE (April 1, 2021) - An international consortium of geneticists, biologists, clinicians, mathematicians, and other scientists is determined to take the study of the human genome to the next level - creating a comprehensive atlas of genetic variants to advance the understanding, diagnosis, and treatment of disease. This Herculean undertaking is unprecedented, said Dr. Matthew Hurles, a geneticist at the Wellcome Sanger Institute in Cambridge, England. Indeed, the scientific community has an increasingly comprehensive catalog of functional DNA elements in the human genome, but that catalog remains incomplete. We have collectively characterized the functional impact of less than 1% of genetic variation in the 1 to 2 percent of our DNA.

Alanf rubinLeam staritaDoug fowlerJamest nealWilliamc hahnMatthew hurlesAnnal gloynFritz rothDavidj adamsBroad instituteBrotman bata institute for precision medicineBrotman baty institute for precision medicineWellcome sanger institute in cambridgeStanford university school of medicineUniversity of washington uw medicineHarvard medical school