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

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

Purpose: Reports of the use of whole-exome sequencing in clinical practice are limited. We
report our experience with whole-exome sequencing in 115 patients in a single center and …

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 …

About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …

Purpose We evaluated clinical and genetic features enriched in patients with multiple
Mendelian conditions to determine which patients are more likely to have multiple potentially …

Recent developments in high‐throughput sequence capture methods and next‐generation
sequencing technologies have now made exome sequencing a viable approach to …

Massively parallel DNA sequencing has revolutionized analyses of human genetic variation.
From having been out of reach for individual research groups and even more so for clinical …

Rare, atypical, and undiagnosed autosomal‐recessive disorders frequently occur in the
offspring of consanguineous couples. Current routine diagnostic genetic tests fail to …