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 …

Background: Clinical exome sequencing (CES) has greatly improved the diagnostic process
for individuals with suspected genetic disorders. However, the majority remains …

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 Clinical exome sequencing is nondiagnostic for about 75% of patients evaluated
for a possible Mendelian disorder. We examined the ability of systematic reevaluation of …

Purpose Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving …

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

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …

Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

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

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 …