Background Despite growing evidence of diagnostic yield and clinical utility of whole exome
sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and …

Purpose: Implementation of novel genetic diagnostic tests is generally driven by
technological advances because they promise shorter turnaround times and/or higher …

Objective To describe the experience and outcome of performing whole-exome sequencing
(WES) for resolution of patients on a diagnostic odyssey in the first 18 months of an …

Purpose: To undertake the first prospective cost-effectiveness study of whole-exome
sequencing (WES) as an early, routine clinical test for infants with suspected monogenic …

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 …

Due to the lack of empirical information on parental perceptions of primary results of whole
exome sequencing (WES), we conducted a retrospective semi-structured interview with 19 …

Purpose This study aimed to generate benchmark estimates for the cost, diagnostic yield,
and cost per positive diagnosis of diagnostic exome sequencing (ES) in heterogeneous …

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 …

Exome and whole genome sequencing (ES/WGS) offer potential advantages over traditional
approaches to diagnostic genetic testing. Consequently, use of ES/WGS in clinical settings …

Whole exome sequencing (WES) is an integral tool in the diagnosis of genetic conditions in
pediatric patients, but concerns have been expressed about the complexity of the …