Study Examines Diagnostic Utility of Exome in Neurodevelopmental Disease Cohort | GenomeWeb

A team led by researchers from the University of California, San Diego has found that sequencing the exomes of a cohort of patients with a genetic disease led to a change in diagnosis for almost 10 percent of them. The analysis also identified likely disease-causing genes for almost 20 percent of patients, and a small list of candidate variants for about three quarters of the group.

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