Pacific Biosciences of California Inc.’s technology could rapidly increase the number of rare diseases—and their causes—identified by sequencing. Researchers at Children’s Mercy Research Institute in ...

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 ...

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.

Rapid advances in sequencing technologies have transformed our ability to diagnose human genetic disorders, yet many patients still lack a molecular ...