Exome sequencing (ES) has become one of the important diagnostic tools in clinical
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …

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 …

Purpose Reanalysis of exome sequencing data when results are negative may yield
additional diagnoses. We sought to estimate the contribution of clinical geneticists to the …

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

Clinical exome sequencing (CES) is increasingly being utilized; however, a large proportion
of patients remain undiagnosed, creating a need for a systematic approach to increase the …

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 …

In clinical exome sequencing (cES), the American College of Medical Genetics and
Genomics recommends limiting variant interpretation to established human-disease genes …

Next-generation sequencing has catapulted healthcare into a revolutionary genomics era.
One such technology, whole-exome sequencing, which targets the protein-coding regions of …

Background Approximately two third of patients with a rare genetic disease remain
undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures …

Purpose Diagnostic exome sequencing was immediately successful in diagnosing patients
in whom traditional technologies were uninformative. Herein, we provide the results from the …