Guidelines for releasing a variant effect predictor.

Genome biology
Authors
Abstract

Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well as in other applications like protein engineering. Many different VEPs have been released, and there is tremendous variability in their underlying algorithms, outputs, and the ways in which the methodologies and predictions are shared. This leads to considerable difficulties for users trying to navigate the selection and application of VEPs. Here, to address these issues, we provide guidelines and recommendations for the release of novel VEPs.

Year of Publication
2025
Journal
Genome biology
Volume
26
Issue
1
Pages
97
Date Published
04/2025
ISSN
1474-760X
DOI
10.1186/s13059-025-03572-z
PubMed ID
40234898
Links