CAJ | 학술논문

全基因组关联研究(GWAS)已成为寻找疾病致病基因的重要手段,但是研究费用昂贵,大部分研究者选择了资源利用率更高的二阶段设计.为系统阐述二阶段病例对照设计的研究设计和统计分析方法,论文作者结合实例分析介绍了其设计的基本原理,在GWAS中的实施步骤、统计分析策略以及应用特点和现状.
전기인조관련연구(GWAS)이성위심조질병치병기인적중요수단,단시연구비용앙귀,대부분연구자선택료자원이용솔경고적이계단설계.위계통천술이계단병례대조설계적연구설계화통계분석방법,논문작자결합실례분석개소료기설계적기본원리,재GWAS중적실시보취、통계분석책략이급응용특점화현상.
Genome-wide association study is an important approach to identify common genetic variants that predispose to human disease. Because of the high cost of genotyping on hundreds of thousands of markers on thousands of subjects, a more cost-effective two-stage case-control design is applied by most genome-wide association studies. To describe the design and statistical methods of the two-stage case-control study, this paper introduces the principles of two-stage case-control design, its implementing steps in genome-wide association study and the features of its application.The method is illustrated with an example.