DNA "reference guide" expanded to reflect human diversity
The IndependentFor free real time breaking news alerts sent straight to your inbox sign up to our breaking news emails Sign up to our free breaking news emails Sign up to our free breaking news emails SIGN UP I would like to be emailed about offers, events and updates from The Independent. Read our privacy policy For two decades, scientists have been comparing every person’s full set of DNA they study to a template that relies mostly on genetic material from one man affectionately known as “the guy from Buffalo.” But they've long known that this template for comparison, or “reference genome,” has serious limits because it doesn't reflect the spectrum of human diversity. “We’re missing out.” Now, scientists are building a much more diverse reference that they call a “pangenome," which so far includes the genetic material of 47 people from various places around the world. But scientists said new insights should eventually make genetic testing more accurate, improve drug discovery and bolster personalized medicine, which uses someone’s unique genetic profile to guide decisions for preventing, diagnosing and treating disease. “The Pangenome Project gives a more accurate representation of the genome of people from around the world," and should help doctors better diagnose genetic conditions, said clinical genetics expert Dr. Wendy Chung at Columbia University, who was not involved in the research.