Clinical application of whole-exome sequencing across clinical indications

We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory.WES was performed for many different clinical indications and included the proband plus two or more family members in 76% of cases.The overall diagnostic yield of WES was 28.8%. The diagnostic yield was 23.6% in proband-only cases and 31.0% when three family members were analyzed. The highest yield was for patients who had...