Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China

BackgroundThis pilot study aimed to characterize the regional distribution of genetic variants associated with autosomal recessive and X-linked recessive (AR/XLR) conditions in Fujian Province, Southeast China, to inform the development of targeted carrier screening programs.MethodsAn expanded carri...

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Bibliographic Details
Main Authors: Danhua Guo, Nani Zhou, Qianqian He, Na Lin, Shuqiong He, Deqin He, Yifang Dai, Ying Li, Xuemei Chen, Hailong Huang, Jia Jia, Hua Cao, Liangpu Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Genetics
Subjects:
expanded carrier screening
gene
genetic disease
next-generation sequencing
variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1527228/full
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