Article

DAVE: how to use explainable AI to interpret missense variants for genome diagnostics based on functional protein modeling

2025-11-27

Abstract excerpt

Diagnostic yield in NGS genome diagnostics is constraint by the high fraction of variants of uncertain significance (VUS), in large part due to insufficient interpretability of missense variation. Existing pathogenicity predictors offer strong performance, but often produce an unexplainable score lacking mechanistic insight. Here, we present the Digital Approximation of Variant Effects (MOLGENIS DAVE), an explaina...

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Literature Corpus work: 1b6ef519-8561-5e68-8781-2a540f4f5bff
DOI: 10.1101/2025.11.25.25340947

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