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

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

Exome sequencing technologies are constantly evolving, with exome capture systems
covering more coding bases, and the continual development of improved alignment and …

Background Clinical exome sequencing (CES) provides a comprehensive and effective
analysis of relevant disease-associated genes in a cost-effective manner compared to whole …

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 …

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: Diagnostic exome sequencing (DES) is now a commonly ordered test for
individuals with undiagnosed genetic disorders. In addition to providing a diagnosis for …

Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …