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
基本信息
- 负责人：
- 数据来源： CNSR-Ⅲ
- 论文编号：CNSR-Ⅲ20200212
- 发表时间：
已发表文章
发表杂志：
发表类型: Original Contributions
影响因子(IF):
PMID:
主要研究背景及目的
Stroke is the second leading cause of death worldwide and the leading cause of mortality and long-term disability in China, but its underlying risk genes and pathways is far from being comprehensively understood. We here describe the design and methods of whole genome sequencing (WGS) for 10 914 patients with acute ischaemic stroke (IS) or transient ischaemic attack (TIA) from the Third China National Stroke Registry (CNSR-III).
方法
Baseline clinical characteristics of the included patients in this study were reported. DNA was extracted from white blood cells (WBCs) of participants. Libraries are constructed using qualified DNA, and WGS is conducted on BGISEQ-500 platform. The average depth is intended to be greater than 30× for each subject. Afterwards, Sentieon software is applied to process the sequencing data under the Genome Analysis Toolkit (GATK) best practice guidance to call genotypes of single nucleotide variants (SNVs) and insertion-deletions (indels). For each included subject, 21 fingerprint SNVs are genotyped by MassARRAY assays to verify that DNA sample and sequencing data originate from the same individual. The copy number variations (CNVs) and structural variations (SVs) are also called for each patient. All of the genetic variants are annotated and predicted by bioinformatics software or by reviewing public databases.