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Article

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

BMC medical genomics - 1 Oct 2024

Zhuang Jianlong, Wang Junyu, Huang Nan, Zheng Yu, Xu Liangpu

Abstract excerpt

BACKGROUND: Third-generation sequencing (TGS) based on long-read technology has been gradually used in identifying thalassemia and hemoglobin (Hb) variants. The aim of the present study was to explore genotype varieties of thalassemia and Hb variants in Quanzhou region of Southeast China by TGS. METHODS: Included in this study were 6,174 subjects with thalassemia traits from Quanzhou region of Southeast China....

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Identifiers

PMID: 39354459
DOI: 10.1186/s12920-024-02014-2
PMCID: PMC11445875

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