Article
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
EBioMedicine - 1 Sept 2017
Shang Xuan, Peng Zhiyu, Ye Yuhua, Asan, Zhang Xinhua, Chen Yan, Zhu Baosheng, Cai Wangwei, Chen Shaoke, Cai Ren, Guo Xiaoling, Zhang Chonglin, Zhou Yuqiu, Huang Shuodan, Liu Yanhui, Chen Biyan, Yan Shanhuo, Chen Yajun, Ding Hongmei, Yin Xiaolin, Wu Liusong, He Jing, Huang Dongai, He Sheng, Yan Tizhen, Fan Xin, Zhou Yuehong, Wei Xiaofeng, Zhao Sumin, Cai Decheng, Guo Fengyu, Zhang Qianqian, Li Yun, Zhang Xuelian, Lu Haorong, Huang Huajie, Guo Junfu, Zhu Fei, Yuan Yuan, Zhang Li, Liu Na, Li Zhiming, Jiang Hui, Zhang Qiang, Zhang Yijia, Juhari Wan Khairunnisa Wan, Hanafi Sarifah, Zhou Wanjun, Xiong Fu, Yang Huanming, Wang Jian, Zilfalil Bin Alwi, Qi Ming, Yang Yaping, Yin Ye, Mao Mao, Xu Xiangmin
Abstract excerpt
Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed. We validated the assay by using 2522 subjects affected with hemoglobinopathies and applied it to carrier...
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