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

Fuente: arXiv
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Auteurs principaux: Zhang, Cindy, Roth, Frederick P.
Format: Preprint
Publié: 2024
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author Zhang, Cindy
Roth, Frederick P.
author_facet Zhang, Cindy
Roth, Frederick P.
contents Computational variant effect predictors (VEPs) are providing increasingly strong evidence to classify the pathogenicity of missense variants. Precision vs. recall analysis is useful in evaluating VEP performance, especially when adjusted for imbalanced test sets. Here, we describe VEPerform, a web-based tool for evaluating the performance of VEPs at the gene level using balanced precision vs. recall curve (BPRC) analysis.
format Preprint
id arxiv_https___arxiv_org_abs_2412_10262
institution arXiv
publishDate 2024
record_format arxiv
spellingShingle VEPerform: a web resource for evaluating the performance of variant effect predictors
Zhang, Cindy
Roth, Frederick P.
Genomics
Computational variant effect predictors (VEPs) are providing increasingly strong evidence to classify the pathogenicity of missense variants. Precision vs. recall analysis is useful in evaluating VEP performance, especially when adjusted for imbalanced test sets. Here, we describe VEPerform, a web-based tool for evaluating the performance of VEPs at the gene level using balanced precision vs. recall curve (BPRC) analysis.
title VEPerform: a web resource for evaluating the performance of variant effect predictors
topic Genomics
url https://arxiv.org/abs/2412.10262