Article

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

2026-05-08

Abstract excerpt

<title>Abstract</title> <p>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...

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Literature Corpus work: f19bec8b-19ea-51ed-b62c-6871b1811aa8
DOI: 10.21203/rs.3.rs-9274702/v1

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