Guidelines for releasing a variant effect predictor

Genome biology, Journal Year: 2025, Volume and Issue: 26(1)

Published: April 15, 2025

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

Language: Английский

Variant effect predictor correlation with functional assays is reflective of clinical classification performance

Genome biology, Journal Year: 2025, Volume and Issue: 26(1)

Published: April 22, 2025

Language: Английский