Abstract
马昭君,易洪刚,赵杨,陈峰.全基因组关联研究中的二阶段病例对照设计[J].Chinese journal of Epidemiology,2010,31(10):1184-1187
全基因组关联研究中的二阶段病例对照设计
Using two-stage csse-control designs to study the genome-wide association
Received:March 17, 2010  
DOI:10.3760/cma.j.issn.0254-6450.2010.10.025
KeyWord: 全基因组关联研究  二阶段设计  病例对照
English Key Word: Genome-wide association study  Two-stage design  Case-control
FundProject:国家自然科学基金(81072389);江苏省高校自然科学研究重大项目(10KJA330034)
Author NameAffiliationE-mail
MA Zhao-jun 210029 南京医科大学流行病与卫生统计学系 fengehen@njmu.edu.Cn 
YI Hong-gang 210029 南京医科大学流行病与卫生统计学系  
ZHAO Yang 210029 南京医科大学流行病与卫生统计学系  
CHEN Feng 210029 南京医科大学流行病与卫生统计学系  
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Abstract:
      全基冈组关联研究(GwAs)已成为寻找疾病致病基冈的重要手段,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JI特点和现状。
English Abstract:
      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 associmion study and the features of its application. Thc method is illustrated with an example.
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