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Nappi, A. ; Cai, N. ; Casale, F.P.

Bayesian aggregation of multiple annotations enhances rare variant association testing.

In: (Research in Computational Molecular Biology). Berlin [u.a.]: Springer, 2025. 428-431 (Lect. Notes Comput. Sc. ; 15647 LNBI)
Postprint DOI
Open Access Green
Gene-based rare variant association tests (RVATs) are essential for uncovering disease mechanisms and identifying candidate drug targets, yet existing frameworks lack flexibility in integrating multiple variant annotations. Here, we introduce BayesRVAT, a Bayesian framework for RVAT which models variant effects using priors informed by multiple annotations. We show that BayesRVAT outperforms state-of-the-art burden test strategies in both simulations and an analysis of 12 blood traits from the UK Biobank.
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Publication type Article: Conference contribution
Language english
Publication Year 2025
HGF-reported in Year 2025
ISSN (print) / ISBN 0302-9743
e-ISSN 1611-3349
Conference Title Research in Computational Molecular Biology
Journal Lecture Notes in Computer Science
Quellenangaben Volume: 15647 LNBI, Issue: , Pages: 428-431 Article Number: , Supplement: ,
Publisher Springer
Publishing Place Berlin [u.a.]
Institute(s) Human-Centered AI (HCA)
Helmholtz Pioneer Campus (HPC)
POF-Topic(s) 30205 - Bioengineering and Digital Health
30202 - Environmental Health
Research field(s) Enabling and Novel Technologies
Pioneer Campus
PSP Element(s) G-540004-001
G-510007-001
DOI 10.1007/978-3-031-90252-9_54
Scopus ID 105004253411
Erfassungsdatum 2025-05-22
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