… Exome sequencing and genome sequencing have the potential to improve clinical utility
for patients undergoing genetic investigations. However, evidence of clinical utility is limited to …

… exome sequencing cases to date. These data demonstrate the utility of family-based exome
sequencing … cohort, illustrating the utility of diagnostic exome sequencing as a transformative …

… We performed exome sequencing in 93 undiagnosed patients with various NMDs for whom
a … to evaluate the use of exome sequencing in the context of their prior diagnostic workup. …

… To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) …
This study aimed to investigate the utility of WES in individuals with presumed genetic …

… We conducted exome sequencing and diagnostic analysis in two cohorts totaling 3315
patients with chronic kidney disease. We assessed the diagnostic yield and, among the patients …

… Return of 31 exome sequencing results was observed during clinic sessions, followed by …
were used for content analysis and systematic comparisons of parents’ perceptions of utility. …

… clinical and personal utility, which has not been systematically studied, to our knowledge. …
and performing exome sequencing (ES), we report diagnostic results and their clinical utility. …

… Exome sequencing (ES) has become one of the important … is scarce evidence supporting
clinical utility beyond a follow-up … clinical utility of ES and the diagnostic potential of exome …

… , which enhances the power … -exome sequencing (5). It is estimated that 80% of the variants
causing Mendelian disease are located within the exome, making whole-exome sequencing …

… utility of whole exome sequencing for a heterogeneous group of pediatric neurology patients,
and its utility … The authors performed whole exome sequencing on 57 pediatric patients in …