An Overview of Genome-Wide Association Studies
An Overview of Genome-Wide Association Studies
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DOI：
10.1007/978-1-4939-7717-8_6
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发表时间：
2018-01-01
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影响因子：
--
通讯作者：
Cai, Lei
中科院分区：
文献类型：
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作者：
Chang, Michelle;He, Lin;Cai, Lei
全基因组关联研究（GWAS）是一项强大的研究设计，用于识别性状的遗传变异，特别是检测常见单核苷酸多态性（snp）与常见人类疾病（如心脏病、炎症性肠病、2型糖尿病和精神疾病）之间的关联。本章阐述了基于人群的GWAS病例对照研究的标准策略。我们概述了GWAS的基本概念，并提供了在GWAS中执行统计方法的指导方针。
Genome-wide association study (GWAS) is a powerful study design to identify genetic variants of a trait and, in particular, detect the association between common single-nucleotide polymorphisms (SNPs) and common human diseases such as heart disease, inflammatory bowel disease, type 2 diabetes, and psychiatric disorders. The standard strategy of population-based case-control studies for GWAS is illustrated in this chapter. We provide an overview of the concepts underlying GWAS, as well as provide guidelines for statistical methods performed in GWAS.