国家神经系统疾病临床医学研究中心数据管理与共享系统

Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases

《国家中心数据管理与共享系统操作说明书 —— 研究者部分》

Gene panel for Mendelian strokes

第一作者：Fang Fang,Zhe Xu

通讯作者：Wei Li,Yongjun Wang

next-generation sequencing target gene panel Mendelian stroke

基本信息

2020-04-26

已发表文章

发表杂志：Stroke and vascular neurology

发表类型: Protocol

影响因子(IF): 4.081

PMID: 32341005 Pubmed原文链接 全文下载

主要研究背景及目的

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方法

A systematic literature search was conducted to identify causal genes of Mendelian strokes, which were used to construct a hybridization-based gene capture panel. Genetic variants for target genes were detected using Illumina HiSeq X10 and the Novaseq platform. The sensitivity and specificity were evaluated by comparing the results with Sanger sequencing.

结论

This panel provides an economical, time-saving and labour-saving method to detect causal mutations of Mendelian strokes.

主要结果

53 suspected patients of Mendelian strokes were analysed using the panel of 181 causal genes. According to the American College of Medical Genetics and Genomics standard, 16 likely pathogenic/variants of uncertain significance genetic variants were identified. Diagnostic testing was conducted by comparing the consistency between the results of panel and Sanger sequencing. Both the sensitivity and specificity were 100% for the panel.