Article
Guidelines for releasing a variant effect predictor.
Genome biology - 15 Apr 2025
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
Abstract excerpt
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...
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