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Article

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA).

The Journal of molecular diagnostics : JMD - 1 Sept 2021

Liang Qiaowei, Gu Wanqian, Chen Ping, Li Yuezhen, Liu Yanqiu, Tian Mao, Zhou Qiaomiao, Qi Hongbo, Zhang Yuhong, He Jun, Li Qing, Tang Lingfang, Tang Juan, Teng Yanling, Zhou Yulin, Huang Shengwen, Lu Zongjie, Xu Mengnan, Hou Wei, Huang Ting, Li Youqiong, Li Rong, Hu Lanping, Li Shaoying, Guo Qiwei, Zhuo Zhaozhen, Mou Yan, Cram David S, Wu Lingqian

Abstract excerpt

The aim of the study was to assess the clinical utility of a third-generation sequencing (TGS) approach termed comprehensive analysis of thalassemia alleles (CATSA) for identifying both α and β thalassemia genetic carrier status. Prospective blood samples (n = 1759) with abnormal hemoglobin parameters were screened for pathogenic thalassemia variants by CATSA on the PacBio TGS platform. In 1159 individuals, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34293487
DOI: 10.1016/j.jmoldx.2021.06.008

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