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 …

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

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

Diagnostic Clinical Genome and Exome Sequencing | NEJM Skip to main content NEJM
Group Follow Us Facebook Twitter Instagram YouTube LinkedIn Prepare to become a …

Recent advances in next-generation sequencing technologies have transformed the
genetics study of human diseases; this is an era of unprecedented productivity. Exome …

Background There are limited reports of the use of whole exome sequencing (WES) as a
clinical diagnostic tool. Moreover, there are no reports addressing the cost burden …

Purpose: Evaluation of the clinician's role in the optimal interpretation of clinical exome
sequencing (ES) results. Methods: Retrospective chart review of the first 155 patients who …