Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects.

Abstract excerpt

Computational methods for estimating missense variant impact suffer from inconsistent performance across genes, which poses a major challenge for their reliable use in clinical practice. While ensemble scores leverage multiple prediction methods to enhance consistency, the overrepresentation of certain genes in the training data can bias their outcomes. To address this critical limitation, we propose a...

Topics

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• Computational Biology
• Databases, Genetic
• Gene Frequency
• Mutation, Missense
• Polymorphism, Single Nucleotide