Background Exome and genome sequencing have been demonstrated to increase
diagnostic yield in paediatric populations, improving treatment options and providing risk …

Purpose This study aimed to correlate the indications and diagnostic yield of exome
sequencing (ES) in adult patients across various clinical settings. The secondary aim was to …

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

Rare diseases comprise a diverse group of conditions, most of which involve genetic
causes. We describe the variable spectrum of findings and clinical impacts of exome …

Diagnostic Clinical Genome and Exome Sequencing | New England Journal of Medicine Skip to
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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 …

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 …

Importance Clinical exome sequencing (CES) is rapidly becoming a common molecular
diagnostic test for individuals with rare genetic disorders. Objective To report on initial …

The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals
of European ancestry, with less focus on underrepresented minority (URM) and underserved …

Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we
report the molecular diagnostic yield and spectrum of genetic alterations contributing to …