Scientists are cracking the code of when genetic variants matter

Science news

“There’s a basic cleanup that needs to be done, because of the general crappiness of the databases that came before,” said Dr. Jay Shendure, a geneticist at the University of Washington who is not a member of the ExAC team.
Writing in the journal Nature, the team that built ExAC provided a 30,000-foot view of that general crappiness. On average, the researchers found, each ExAC subject has 54 variants classified as causing a genetic disorder — almost all of which are probably false positives.