Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

ABSTRACT:

Purpose

Automated variant filtering is an essential part of diagnostic genome-wide sequencing but may generate false negative results. We sought to investigate whether some previously identified pathogenic variants may be being routinely excluded by standard variant filtering pipelines.

Methods

We evaluated variants that were previously classified as pathogenic or likely pathogenic in ClinVar in known developmental disorder genes using exome sequence data from the Deciphering Developmental Disorders (DDD) study.

Results

Of these ClinVar pathogenic variants, 3.6% were identified among 13,462 DDD probands, and 1134/1352 (83.9%) had already been independently communicated to clinicians using DDD variant filtering pipelines as plausibly pathogenic. The remaining 218 varia

SUBMITTER: Wright CF 

PROVIDER: S-EPMC7935711 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature