NIH Program Finds Exome Sequencing Provides Answers for Some Patients with Undiagnosed Diseases

As part of the National Institutes of Health's Undiagnosed Diseases Program, researchers had sequenced about 50 exomes from 11 patients and their family members as of last month, as well as full genomes of three individuals. They have so far found disease-causing variants in two patients, and variants likely to be causative in another two.