The clinical utility of exome and genome sequencing across clinical indications: a systematic review
… 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 …
for patients undergoing genetic investigations. However, evidence of clinical utility is limited to …
[HTML][HTML] Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with …
KD Farwell, L Shahmirzadi, D El-Khechen, Z Powis… - Genetics in …, 2015 - Elsevier
… 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 …
sequencing … cohort, illustrating the utility of diagnostic exome sequencing as a transformative …
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
… 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. …
a … to evaluate the use of exome sequencing in the context of their prior diagnostic workup. …
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
… 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 …
This study aimed to investigate the utility of WES in individuals with presumed genetic …
[HTML][HTML] Diagnostic utility of exome sequencing for kidney disease
EE Groopman, M Marasa… - … England Journal of …, 2019 - Mass Medical Soc
… 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 …
patients with chronic kidney disease. We assessed the diagnostic yield and, among the patients …
[HTML][HTML] Parents' perceptions of personal utility of exome sequencing results
L Mollison, JM O'Daniel, GE Henderson, JS Berg… - Genetics in …, 2020 - Elsevier
… 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. …
were used for content analysis and systematic comparisons of parents’ perceptions of utility. …
Utility of exome sequencing for diagnosis in unexplained pediatric-onset epilepsy
… 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. …
and performing exome sequencing (ES), we report diagnostic results and their clinical utility. …
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
… 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 …
clinical utility beyond a follow-up … clinical utility of ES and the diagnostic potential of exome …
Exome sequencing can improve diagnosis and alter patient management
TJ Dixon-Salazar, JL Silhavy, N Udpa… - Science translational …, 2012 - science.org
… , 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 …
causing Mendelian disease are located within the exome, making whole-exome sequencing …
Utility of whole exome sequencing for genetic diagnosis of previously undiagnosed pediatric neurology patients
M Kuperberg, D Lev, L Blumkin… - Journal of child …, 2016 - journals.sagepub.com
… 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 …
and its utility … The authors performed whole exome sequencing on 57 pediatric patients in …
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