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Article

Scalable and accurate rare-variant association tests for whole genome sequencing time-to-event analysis in large biobanks.

Proceedings of the National Academy of Sciences of the United States of America - 3 Mar 2026

Song Shuang, Li Xihao, Zhou Hufeng, Li Zilin, Lin Xihong

Abstract excerpt

Whole genome sequencing (WGS) studies in large biobanks provide an unprecedented opportunity to study the rare-variant (RV) effects on the natural history of human diseases by analyzing censored time-to-event (TTE) phenotypes, such as age at disease diagnosis, disease progression, and lifespan. Unlike existing methods developed for continuous and categorical phenotypes, rare-variant association tests (RVATs) for...

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PMID: 41758668
DOI: 10.1073/pnas.2525288123
PMCID: PMC12956888

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