Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

• Published in: EBioMedicine Vol. 23; no. C; pp. 150 - 159
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.09.2017; Elsevier
• Subjects: Adolescent; Adult; Advanced Basic Science; Case-Control Studies; China - epidemiology; Clinical genotyping; Erythrocyte Indices; Genetic Association Studies - methods; Genetic Carrier Screening; Genetic Predisposition to Disease; Genetic Testing - methods; Genetic Variation; Genotype; Genotyping Techniques; Geography, Medical; Hemoglobinopathies - diagnosis; Hemoglobinopathies - epidemiology; Hemoglobinopathies - genetics; Hemoglobinopathy; Hemoglobins, Abnormal - genetics; High-Throughput Nucleotide Sequencing - methods; Humans; Internal Medicine; Middle Aged; Molecular screening; Next-generation sequencing; Phenotype; Polymorphism, Single Nucleotide; Population Surveillance; Prevalence; Reproducibility of Results; Research Paper; Sensitivity and Specificity; Severity of Illness Index; Young Adult; Molecular screening; Hemoglobinopathy; Next-generation sequencing; Clinical genotyping

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 d...