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Scientists create atlas of human genome variants

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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. It is 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 characterised the functional impact of less than one per cent of genetic variation in the one to two per cent of our DNA.”

Hurles and Dr. Doug Fowler, a member of the Brotman Baty Institute for Precision Medicine (BBI) and professor of Genome Sciences at the University of Washington’s UW Medicine, want to increase those percentages significantly. 

They are founding members of the Atlas of Variant Effects (AVE) Alliance and co-authors of a white paper outlining what may be the most ambitious task over the past 30 years since the Human Genome Project. 

Fowler said: “The ultimate goal is to develop a systematic, extensive understanding of the functional impact of variants in human, model organism and pathogen genomes. 

“However, the field of variant effect mapping is already yielding major impacts. We believe and expect that a coordinated and phased approach with others globally could be transformative. The first major, ‘real world’ impact of the atlas of variant effects is expected to be improved genetic diagnosis and precision medicine.”

Anna Gloyn, professor of paediatrics at the Stanford University School of Medicine and an AVE Executive Committee member, said: “We’ve never known so much about naturally occurring variation in the human genome and now is the time to seize the opportunity to understand what that variation means for human health.”

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