Diagnostic yield of exome sequencing in adults with rare disease: An eight-year retrospective study

Presenting Author: Brooklynn Gasser, MS

Take home points: 

1. Exome in adults has an overall diagnostic yield of 15.7%.
2. Diagnostic yield was highest for: undergrowth/FTT, intellectual disability, neurodevelopmental, overgrowth, and multiple congenital anomalies.
3. Having parental trios significantly increased the diagnostic yield to 21.8%.
4. Overall, ES is a powerful diagnostic tool regardless of proband age.