A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
Purpose Whole-exome sequencing (WES) can help identify known and novel pathogenic
molecular aberrations. Here, we examined the diagnostic yield of WES in population from
consanguineous unions. Methods We preformed retrospective review of multicenter WES
results of an unselected cohort of patients with a wide range of phenotypes. Clinical data
and WES reports of 454 patients from 5 centers across Saudi Arabia were analyzed. Testing
was performed in accredited commercial laboratories, and all the WES laboratory reports …
molecular aberrations. Here, we examined the diagnostic yield of WES in population from
consanguineous unions. Methods We preformed retrospective review of multicenter WES
results of an unselected cohort of patients with a wide range of phenotypes. Clinical data
and WES reports of 454 patients from 5 centers across Saudi Arabia were analyzed. Testing
was performed in accredited commercial laboratories, and all the WES laboratory reports …