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Why variant effect predictors and multiplexed assays agree and disagree

2025-08-01

Abstract excerpt

Computational variant effect predictors (VEPs) and multiplexed assays of variant effect (MAVEs) are two key tools for assessing the functional consequences of genetic variants. While their outputs are often concordant, there are also many differences. Here, we analyse missense MAVE data from 37 different human proteins, comparing them to five state-of-the-art VEPs in order to quantify and explain their points of a...

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Literature Corpus work
35642613-ad5c-55b9-a5dc-2ff305587c62
DOI
10.1101/2025.07.31.667868
Open publication

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Why variant effect predictors and multiplexed assays agree and disagreeDOI 10.1101/2025.07.31.667868
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