A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

ABSTRACT: Advancing the clinical utility of whole-exome sequencing (WES) for patients with suspected genetic disorders is largely driven by bioinformatics approaches that streamline data processing and analysis. Herein, we describe our experience with implementing a semiautomated and phenotype-driven WES diagnostic workflow, incorporating both the DRAGEN pipeline and the Exomiser variant prioritization tool, at an academic children's hospital with an ethnically diverse pediatric patient population. We achieved a 41% molecular diagnostic rate for 66 duo-, quad-, or trio-WES cases, and 28% for 40 singleton-WES cases. Preliminary results were returned to ordering physicians within 1 wk for 12 of 38 (32%) probands with positive findings, which were instrumental in guiding the appropriate clinical manage

SUBMITTER: Ji J 

PROVIDER: S-EPMC6549575 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature