Article

Benchmarking of variant pathogenicity prediction methods using a population genetics approach

2025-03-17

Abstract excerpt

<h4>Motivation</h4> Variant pathogenicity predictors are essential for identifying new associations between genetic variants and rare diseases. However, despite the availability of numerous predictors, there is no clear consensus on which methods provide the most reliable results. The common practice of training, testing, and benchmarking these predictors using known variant sets from disease or mutagenesis studi...

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Literature Corpus work: 1aafba28-e0cd-5217-9c4e-7b8a23ab60eb
DOI: 10.1101/2025.03.16.643565

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