Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

ABSTRACT:

Background

This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing and interpretation.

Methods

Laboratories uploaded variant data to the Franklin Genoox platform. Reports were issued to each laboratory, summarising variants where conflicting classifications with another laboratory were noted. Laboratories could then reassess variants to resolve discordances. Discordance was calculated using a five-tier model (pathogenic (P), likely pathogenic (LP), variant of uncertain significance (VUS), likely benign (LB), benign (B)), a three-tier model (LP/P are positive, VUS are inconclusive, LB/B are negative) and a

SUBMITTER: Mighton C 

PROVIDER: S-EPMC8523590 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature