Data Management And Sharing System of China National Clinical Research Center for Neurological Diseases
Gene panel for Mendelian strokes
First author：Fang Fang,Zhe Xu
Corresponding author：Wei Li,Yongjun Wang
essential_information
- Person in charge：Fang Fang,Zhe Xu
- Data Sources： CNSR-Ⅲ
- Number of papers：CNSR-Ⅲ20190160
- Published time：2020-04-26
2020-04-26
Published articles
Journal：Stroke and vascular neurology
Publication type: Protocol
IF(IF): 4.081
PMID: 32341005 Link To Pubmed Full text Download
Background And Purpose
abc
Method
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.
Conclusion
This panel provides an economical, time-saving and labour-saving method to detect causal mutations of Mendelian strokes.
Main results
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.