Article

Gene- and domain-aware calibration increases the clinical utility of variant effect predictors

2026-02-18

Abstract excerpt

The utility of clinical genetic testing is limited because around 90% of missense variants in ClinVar remain of uncertain clinical significance. Variant effect predictors (VEPs) can score any missense variant, potentially empowering variant classification. Realizing this potential requires calibration to translate predictor scores into evidence. However, genome-wide calibration ignores predictor heterogeneity acro...

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Literature Corpus work: a978d851-95ec-5ee6-8f50-87dec3040bec
DOI: 10.64898/2026.02.17.706269

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