The clinical utility of rapid exome sequencing in a consanguineous population.

ABSTRACT:

Background

The clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome sequencing and is typically employed in specialized clinical settings wherein urgent molecular diagnosis is thought to influence acute management. Studies on the clinical utility of RES have been largely limited to outbred populations.

Methods

Here, we describe our experience with rapid exome sequencing (RES) in a highly consanguineous population. Clinical settings included intensive care units, prenatal cases approaching the legal cutoff for termination, and urgent transplant decisions.

Results

A positive molecular finding (a pathogenic or likely pathogenic variant that explains the phenotype) was observed in 80 of 189

SUBMITTER: Monies D 

PROVIDER: S-EPMC10283251 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature