Prediction of human missense variant effects from functional evidence.

Abstract excerpt

Prediction of missense variant effects remains a critical bottleneck in both research and diagnostic genetics. Current predictors typically rely on clinical outcomes or population patterns rather than direct measures of functional impact, leading to limited generalizability and data circularity. Here we present FuncVEP, a family of variant effect predictors trained on diverse functional data to predict the...

Topics

• Humans
• Mutation, Missense
• Genetic Association Studies
• Phenotype
• Prediction Algorithms
• Genetic Predisposition to Disease