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[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age].

Zhonghua fu chan ke za zhi - 25 Oct 2024

Hao N, Yin K L, Zhang H Z, Qi Q W, Zhou X Y, Lyu Y, Jiang Y L

Abstract excerpt

Objective: To determine the carrier frequency and hot-spot variants of a custom-designed expanded carrier screening (ECS) panel with 216 diseases (216-ECS panel) within a Chinese population of childbearing age. Methods: Whole-exome sequencing data from a cohort of 3 097 unrelated healthy individuals (including 1 424 couples) from Peking Union Medical College Hospital between January 2013 and December 2023 were...

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PMID: 39463360
DOI: 10.3760/cma.j.cn112141-20240617-00340

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