Medical Xpress May 14, 2023
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 need a really good understanding of the variations, the differences between human beings,” said genomics expert Benedict Paten of the University of California, Santa Cruz. “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. It’s the subject...