BayesRVAT enhances rare-variant association testing through Bayesian aggregation of functional annotations.

Abstract excerpt

Gene-level rare variant association tests (RVATs) are essential for uncovering disease mechanisms and identifying therapeutic targets. Advances in sequence-based machine learning have generated diverse variant pathogenicity scores, creating opportunities to improve RVATs. However, existing methods often rely on rigid models or single annotations, limiting their ability to leverage these advances. Here, we...

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