桑格测序
长QT综合征
医学
DNA测序
一致性
基因检测
外显子组测序
计算生物学
遗传学
生物信息学
QT间期
基因
内科学
生物
突变
作者
Hyojin Chae,Jiyeon Kim,Gun Dong Lee,Woori Jang,Joonhong Park,Dong Wook Jekarl,Yong Seog Oh,Myungshin Kim,Yonggoo Kim
标识
DOI:10.1016/j.cca.2016.11.013
摘要
Congenital long-QT syndrome (LQTS) is a potentially lethal cardiac electrophysiologic disorder characterized by QT interval prolongation and T-wave abnormalities. At least 13 LQTS-associated genes have been reported, but the high cost and low throughput of conventional Sanger sequencing has hampered the multi-gene-based LQTS diagnosis in clinical laboratories. We developed an NGS (next-generation sequencing)-based targeted gene panel for 13 LQTS genes using the Ion PGM platform, and a cohort of 36 LQTS patients were studied for characterization of analytical performance specifications. This panel efficiently explored 212 of all 221 coding exons in 13 LQTS-associated genes. And for those genomic regions covered by the design of the NGS panel, the analytical sensitivity and analytical specificity for all potentially pathogenic variants were both 100% and showed 100% concordance with clinically validated Sanger sequencing results in five major LQTS genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2). This is the first description of an NGS panel targeting a multi-gene panel of 13 LQTS-associated genes. We developed and validated this robust, high-throughput NGS test and informatics pipeline for LQTS diagnosis suitable for the clinical testing laboratory.
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