Guidelines for releasing a variant effect predictor
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 to date, and there is tremendous variability in their underlying algorithms and outputs, and in the ways in which the methodologies and predictions are shared. This leads to considerable challenges for end users in knowing which VEPs to use and how to use them. Here, to address these issues, we provide guidelines and recommendations for the release of novel VEPs. Emphasising open-source availability, transparent methodologies, clear variant effect score interpretations, standardised scales, accessible predictions, and rigorous training data disclosure, we aim to improve the usability and interpretability of VEPs, and promote their integration into analysis and evaluation pipelines. We also provide a large, categorised list of currently available VEPs, aiming to facilitate the discovery and encourage the usage of novel methods within the scientific community.
Cite
@article{arxiv.2404.10807,
title = {Guidelines for releasing a variant effect predictor},
author = {Benjamin J. Livesey and Mihaly Badonyi and Mafalda Dias and Jonathan Frazer and Sushant Kumar and Kresten Lindorff-Larsen and David M. McCandlish and Rose Orenbuch and Courtney A. Shearer and Lara Muffley and Julia Foreman and Andrew M. Glazer and Ben Lehner and Debora S. Marks and Frederick P. Roth and Alan F. Rubin and Lea M. Starita and Joseph A. Marsh},
journal= {arXiv preprint arXiv:2404.10807},
year = {2024}
}
Comments
14 pages, 1 figure