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The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.

Human genomics - 31 Jan 2024

Zhang Xue, Chen Qian, Li Junnan, Luo Xin, Luo Jianyun, Li Jian, Zeng Ziye, Wu Yan, Zhang Hua, Dong Yanling

Abstract excerpt

Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the Chinese population. A total of 3737 individuals from Southwest China or the general Chinese population, including 1048 pairs and 1641 individuals, were analysed by ECS for 155 monogenetic diseases. An ECS panel was used to detect 147 genes and 10,449 variants in 145...

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Identifiers

PMID: 38297315
DOI: 10.1186/s40246-024-00577-w
PMCID: PMC10829374

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