Article

Bayesian Aggregation of Multiple Annotations Enhances Rare Variant Association Testing

2025-03-04

Abstract excerpt

Gene-level rare variant association tests (RVATs) are essential for uncovering disease mechanisms and identifying potential drug targets. Advances in sequence-based machine learning have expanded the availability of variant pathogenicity scores, offering new opportunities to improve variant prioritization for RVATs. However, existing methods often rely on rigid models or analyze single annotations in isolation, li...

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Literature Corpus work: 5dba83e4-7093-5449-9eef-517769141439
DOI: 10.1101/2025.03.02.641062

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