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Article

A scalable framework for identifying allelic series from summary statistics.

American journal of human genetics - 6 Nov 2025

McCaw Zachary R, Gao Jianhui, Dey Rounak, Tucker Simon, Zhang Yiyan, Gronsbell Jessica, Li Xihao, Fox Emily, O'Dushlaine Colm, Soare Thomas W

Abstract excerpt

Genes where a dose-response relationship exists between functionality and phenotypic impact are appealing therapeutic targets, as the effects of pharmacological modulation can be predicted from natural genetic variation. We refer to such genes as harboring allelic series and have introduced the rare coding-variant allelic series test (COAST) for their identification. The original COAST required access to...

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Identifiers

PMID: 41086816
DOI: 10.1016/j.ajhg.2025.09.012
PMCID: PMC12808971

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