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Article

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

Genome medicine - 13 Jul 2023

Sharo Andrew G, Zou Yangyun, Adhikari Aashish N, Brenner Steven E

Abstract excerpt

BACKGROUND: Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants. It is unclear whether variant misclassification is abating as these databases rapidly grow and implement new guidelines. METHODS: Using archives of ClinVar and HGMD, we investigated how variant misclassification has changed over 6 years,...

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Identifiers

PMID: 37443081
DOI: 10.1186/s13073-023-01199-y
PMCID: PMC10347827

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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