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

Abstract 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 overrepresentatio...

Full description

Saved in:
Bibliographic Details
Main Authors: Panagiotis Katsonis, Olivier Lichtarge
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-55066-4
Tags: Add Tag
No Tags, Be the first to tag this record!