Proband-only Diagnostic Exome Sequencing: Trends in Diagnostic Yield at One Commercial Company
The diagnostic yield of proband-only diagnostic exome sequencing (DES) is nearly half that of DES performed on trios; however in the absence of available family members, proband-only DES is a useful diagnostic tool.
Pediatric cases submitted for proband-only DES had a higher overall diagnostic rate, but adult cases tended to have a higher level of certainty for clinical
Neonates had the highest diagnostic yield (80.0%; 4/5), and adults over the age of 40 had the lowest (5.48%; 4/73).
Authors: Meghan Towne; Brian Schoenfeld; Kirsten Blanco; Sha Tang