In order to assess the benefits of genome sequencing compared to exome sequencing, scientists from the Broad Institute of MIT and Harvard and Harvard Medical School in Boston analyzed 744 families.

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...