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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 Rubin , Leam Starita , Doug Fowler , Jamest Neal , Williamc Hahn , Matthew Hurles , Annal Gloyn , Fritz Roth , Davidj Adams , Broad Institute , Brotman Bata Institute For Precision Medicine , Brotman Baty Institute For Precision Medicine , Wellcome Sanger Institute In Cambridge , Stanford University School Of Medicine , University Of Washington Uw Medicine , Harvard Medical School , Wellcome Sanger Institute , University Of Toronto , Genome Sciences , University Of Washington , University Of Melbourne , University Of Washington School Medicine , Dana Farber Cancer Institute , Brotman Bata Institute , Precision Medicine , Variant Effects ,