P519: VEPerform: A web resource for evaluating the performance of variant effect predictors

Computational variant effect predictors (VEPs) are providing increasingly-strong evidence to classify the pathogenicity of missense variants. Many VEP comparisons have aggregated performance across genes and diseases, but there is a need for a standardized platform to assess performance at the individual gene level, in order not only to choose the best VEP, but also to begin to evaluate the strength of evidence it can provide and identify genes for which experimental functional evidence is most important.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102360
Primary Topic
Machine Learning in Bioinformatics
Type
article
Field-Weighted Citation Impact
0.00
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article

P519: VEPerform: A web resource for evaluating the performance of variant effect predictors

Cindy Zhang, Frederick P. Roth
Genetics in Medicine Open
Machine Learning in Bioinformatics
article

P519: VEPerform: A web resource for evaluating the performance of variant effect predictors

Cindy Zhang, Frederick P. Roth
article en

Abstract

Computational variant effect predictors (VEPs) are providing increasingly-strong evidence to classify the pathogenicity of missense variants. Many VEP comparisons have aggregated performance across genes and diseases, but there is a need for a standardized platform to assess performance at the individual gene level, in order not only to choose the best VEP, but also to begin to evaluate the strength of evidence it can provide and identify genes for which experimental functional evidence is most important.

Genetics in Medicine OpenVol. 3
University of Pittsburgh (US)
Openalex Percentile: Top 96%
Machine Learning in Bioinformatics
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