Article

Prediction of human missense variant effects from functional evidence

2025-10-03

Abstract excerpt

<title>Abstract</title> <p>Prediction of missense variant effects remains the critical bottleneck in disease gene identification and clinical interpretation. Current predictors rely on clinical outcomes or population patterns, rather than direct measures of functional impact, leading to limited generalizability and data circularity. We present FuncVEP, the first family of variant effect predictors trained exclusi...

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Literature Corpus work: 5e19c339-a3f2-5057-b679-9724e33715ac
DOI: 10.21203/rs.3.rs-7536763/v1

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