Article
A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing
1 Apr 2019
Abstract excerpt
There are approximately 7,000 rare diseases affecting 25-30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for genetics practitioners to determine appropriate testing, make accurate diagnoses, and conduct up-to-date patient management. Exome sequencing (ES) is a comprehensive diagnostic approach, but only 25%-41% of the patients receive a molecular diagnosis. The...
Topics
Join the communities discussing this publication.