Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

ABSTRACT: Each year diagnostic laboratories in the Netherlands profile thousands of individuals for heritable disease using next-generation sequencing (NGS). This requires pathogenicity classification of millions of DNA variants on the standard 5-tier scale. To reduce time spent on data interpretation and increase data quality and reliability, the nine Dutch labs decided to publicly share their classifications. Variant classifications of nearly 100,000 unique variants were catalogued and compared in a centralized MOLGENIS database. Variants classified by more than one center were labeled as "consensus" when classifications agreed, and shared internationally with LOVD and ClinVar. When classifications opposed (LB/B vs. LP/P), they were labeled "conflicting", while other nonconsensus observations were

SUBMITTER: Fokkema IFAC 

PROVIDER: S-EPMC6900155 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature