GCTA：一种全基因组复杂性状分析工具。
GCTA: a tool for genome-wide complex trait analysis.
机构信息
Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, 300 Herston Road, Brisbane, Queensland 4006, Australia.
出版信息
Am J Hum Genet. 2011 Jan 7;88(1):76-82. doi: 10.1016/j.ajhg.2010.11.011. Epub 2010 Dec 17.
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.
对于大多数人类复杂疾病和特征，全基因组关联研究（GWAS）确定的单核苷酸多态性（SNP）仅能解释遗传率的一小部分。在这里，我们报告了一个名为全基因组复杂性状分析（GCTA）的用户友好型软件工具，它是基于我们最近开发的一种方法来解决“遗传缺失”问题。GCTA 估计了一个复杂性状的染色体或整个基因组上所有 SNP 解释的方差，而不是测试任何特定 SNP 与该性状的关联。我们介绍了 GCTA 的五个主要功能：数据管理、从 SNP 估计遗传关系、SNP 解释的方差混合线性模型分析、连锁不平衡结构估计和 GWAS 模拟。我们重点介绍了估计 X 染色体上所有 SNP 解释的方差并检验剂量补偿假说的功能。GCTA 软件是一个通用工具，可以使用大型 GWAS 数据集估计和划分复杂性状变异。
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