首页> Clinica chimica acta; international journal of clinical chemistry> The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

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第一作者： Jianjiang,Feng

第一单位： Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China.

作者： Jianjiang,Feng ^[1] ; Di,Cui ^[2] ; Caipeng,Li ^[1] ; Yingsong,Yang ^[1] ; Qiuli,Li ^[1] ; Xiaomin,Li ^[1] ; Shuming,Tan ^[1] ; Zhiming,Li ^[1] ; Wanli,Meng ^[2] ; Haoxian,Li ^[3] ; Yanghui,Zhang ^[4]

作者单位： Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China. ^[1] Berry Genomics Corporation, Beijing 102200, China. ^[2] Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China. Electronic address: lihaoxian861212@hotmail.com. ^[3] Center for Medical Genetics, Jiangmen Maternal & Child Health Care Hospital, Jiangmen 529000, Guangdong, China. Electronic address: zyhrabbit@126.com. ^[4]

关键词 Hb variants Large fragment deletion Long-read sequencing (LRS)α-thalassemia rare variant β-thalassemia rare variant