Article

Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes

2024-06-14

Abstract excerpt

Variant effect predictors (VEPs) are computational tools developed to assess the impacts of genetic mutations, often in terms of likely pathogenicity, employing diverse algorithms and training data. Here, we investigate the performance of 35 VEPs in the discrimination between pathogenic and putatively benign missense variants across 963 human protein-coding genes, revealing considerable gene-level heterogeneity as...

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Literature Corpus work: df5c38c8-dbe7-5ddf-ab33-16b8ebc97d01
DOI: 10.1101/2024.06.12.598724

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