Article

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden

2022-11-01

Abstract excerpt

Curated databases of genetic variants assist clinicians and researchers in interpreting genetic testing results. Yet these databases contain variants misclassified as pathogenic, which do not result in pathogenic phenotypes. Using archives of ClinVar and HGMD, we investigated how variant misclassification has changed over six years across different ancestry groups. We considered inborn errors of metabolism (IEMs)...

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Literature Corpus work: 8f5f4ab2-45a8-5c0d-a1d7-09eaf449aad9
DOI: 10.1101/2022.10.26.22281567

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