- 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).
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