New benchmark could improve detection of genetic variants linked to spinal muscular atrophy, other diseases

The stretches of DNA that differ from person to person, called variants, are a major part of what makes us unique, but they can also put us at greater risk of disease. Although we can currently spell out between 80% and 90% of the millions that are in the human genome, the remaining variants may hold clues for treating an array of diseases. Today the list of variants yet to be decoded has shrunk sizably.