Guidelines for releasing a variant effect predictor

Livesey, Benjamin J, Badonyi, Mihaly, Dias, Mafalda, Frazer, Jonathan, Kumar, Sushant, Lindorff-Larsen, Kresten, McCandlish, David M, Orenbuch, Rose, Shearer, Courtney A, Muffley, Lara, Foreman, Julia, Glazer, Andrew M, Lehner, Ben, Marks, Debora S, Roth, Frederick P, Rubin, Alan F, Starita, Lea M, Marsh, Joseph A (April 2025) Guidelines for releasing a variant effect predictor. Genome Biology, 26 (1). p. 97. ISSN 1474-7596

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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.

Item Type:	Paper
Subjects:	bioinformatics bioinformatics > computational biology > algorithms bioinformatics > computational biology
CSHL Authors:	McCandlish, David
Communities:	CSHL labs > McCandlish lab
SWORD Depositor:	CSHL Elements
Depositing User:	CSHL Elements
Date:	15 April 2025
Date Deposited:	18 Apr 2025 19:01
Last Modified:	18 Apr 2025 19:01
Related URLs:	Publisher
URI:	https://repository.cshl.edu/id/eprint/41853

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