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.
Authors
- Cindy Zhang
- Frederick P. Roth (ORCID: https://orcid.org/0000-0002-6628-649X)
Institutions
- University of Pittsburgh (US)
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