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...
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Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2025-01-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-024-55066-4 |
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