Article

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

2026-08-10

Abstract excerpt

<h4>Background: </h4> Diagnostic yield in NGS genome diagnostics is constraint by the high fraction of variants of uncertain significance (VUS), largely due to poor interpretability of missense variation. Current pathogenicity predictors often provide strong performance but lack mechanistic insight. This study introduces MOLGENIS Digital Approximation of Variant Effects (DAVE), a supervised learning model designed...

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Literature Corpus work: be5c0e2c-2a58-5085-a90e-8fd46e12f6f5
DOI: 10.12688/f1000research.187527.1

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