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Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.

Human genomics - 14 Feb 2026

Hao Na, Lü Yan, Bian Jiaxin, Yin Kaili, Xiao Rou, Hu Ping, Peng Ying, Huang Mingtao, Qiao Fengchang, Xiao Rui, Liu Yanbo, You Yanqin, Jiang Yulin

Abstract excerpt

BACKGROUND: Carrier screening serves as an effective measure for reproductive planning. Given ancestry/regional variations in genetic spectra, this study aimed to comprehensively identify high carrier frequency genes/variants in the Chinese population, thereby providing evidence for developing tailored expanded carrier screening (ECS) strategies. In this retrospective study, 5,018 healthy participants from...

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PMID: 41691317
DOI: 10.1186/s40246-026-00933-y
PMCID: PMC13011434

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