We examined the utility of clinical and research processes in the reanalysis of publicly‐
funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …

Purpose To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES)
for patients with suspected rare genetic diseases. Methods We prospectively enrolled 297 …

Purpose Exome sequencing often identifies pathogenic genetic variants in patients with
undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance …

While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it
may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of …

Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most
clinical indications. The ongoing discovery of novel gene–disease and variant–disease …

Disclaimer: These recommendations are designed primarily as an educational resource for
medical geneticists and other healthcare providers to help them provide quality medical …

The majority of patients undergoing exome or genome sequencing receive a nondiagnostic
result. Periodic reanalysis is known to increase diagnostic yield from exome sequencing, yet …

The introduction of clinical exome sequencing (ES) has provided a unique opportunity to
decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES …

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 …

Background Recent clinical whole exome sequencing (WES) cohorts have identified
unanticipated multiple genetic diagnoses in single patients. However, the frequency of …