Article
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
Archives of pathology & laboratory medicine - 1 Feb 2023
Zhuang Jianlong, Chen Chunnuan, Fu Wanyu, Wang Yuanbai, Zhuang Qianmei, Lu Yulin, Xie Tiantian, Xu Ruofan, Zeng Shuhong, Jiang Yuying, Xie Yingjun, Wang Gaoxiong
Abstract excerpt
CONTEXT.—: Identification of rare thalassemia variants requires a combination of multiple diagnostic technologies. OBJECTIVE.—: To investigate a new approach of comprehensive analysis of thalassemia alleles based on third-generation sequencing (TGS) for identification of α- and β-globin gene variants. DESIGN.—: Enrolled in this study were 70 suspected carriers of rare thalassemia variants. Routine gap-polymerase...
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