Article

Ancestry-stratified variant classification in monogenic diabetes genes: annotation coverage and differential curation burden

2026-04-07

Abstract excerpt

Variant databases ClinVar and gnomAD are the backbone of clinical variant interpretation, but their population composition is skewed toward European ancestry. Whether this skew creates systematic classification disadvantages for non-European patients with monogenic diabetes has not been examined at the database level. ClinVar variant_summary (GRCh38, April 2026; 4,421,188 variants) was cross-referenced with gnomAD...

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Literature Corpus work: c297605f-20e1-5e3a-a358-92ade0059e61
DOI: 10.64898/2026.04.06.26350230

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