GCTA: A Tool for Genome-wide Complex Trait Analysis

GCTA: A Tool for Genome-wide Complex Trait Analysis
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DOI:
10.1016/j.ajhg.2010.11.011
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发表时间:
2011-01-07
影响因子:
9.8
通讯作者:
Visscher, Peter M.
Visscher, Peter M.
中科院分区:
生物学1区
文献类型:
--
作者:
Yang, Jian;Lee, S. Hong;Visscher, Peter M.

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对于大多数人类复杂疾病和性状,全基因组关联研究(GWAS)发现的snp只能解释一小部分遗传力。在这里,我们报告了一个用户友好的软件工具,称为全基因组复杂性状分析(GCTA),它是基于我们最近开发的解决“缺失遗传性”问题的方法开发的。GCTA估计由一个复杂性状的染色体上或整个基因组上的所有SNP解释的方差,而不是测试任何特定SNP与该性状的关联。介绍了GCTA的五个主要功能:数据管理、SNPs遗传关系估计、SNPs解释方差的混合线性模型分析、连锁不平衡结构估计和GWAS模拟。我们着重于估计由X染色体上所有snp解释的方差的功能和检验剂量补偿的假设。GCTA软件是一种多功能工具,用于估计和划分大型GWAS数据集的复杂性状变异。
For most human complex diseases and traits, SNPs identified by genome-wide association studies (GWAS) explain only a small fraction of the heritability. Here we report a user-friendly software tool called genome-wide complex trait analysis (GCTA), which was developed based on a method we recently developed to address the "missing heritability" problem. GCTA estimates the variance explained by all the SNPs on a chromosome or on the whole genome for a complex trait rather than testing the association of any particular SNP to the trait. We introduce GCTA's five main functions: data management, estimation of the genetic relationships from SNPs, mixed linear model analysis of variance explained by the SNPs, estimation of the linkage disequilibrium structure, and GWAS simulation. We focus on the function of estimating the variance explained by all the SNPs on the X chromosome and testing-the hypotheses of dosage compensation. The GCTA software is a versatile tool to estimate and partition complex trait variation with large GWAS data sets.