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GWAMA:全基因组关联荟萃分析软件。

GWAMA: software for genome-wide association meta-analysis.

机构信息

Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

出版信息

BMC Bioinformatics. 2010 May 28;11:288. doi: 10.1186/1471-2105-11-288.

Abstract

BACKGROUND

Despite the recent success of genome-wide association studies in identifying novel loci contributing effects to complex human traits, such as type 2 diabetes and obesity, much of the genetic component of variation in these phenotypes remains unexplained. One way to improving power to detect further novel loci is through meta-analysis of studies from the same population, increasing the sample size over any individual study. Although statistical software analysis packages incorporate routines for meta-analysis, they are ill equipped to meet the challenges of the scale and complexity of data generated in genome-wide association studies.

RESULTS

We have developed flexible, open-source software for the meta-analysis of genome-wide association studies. The software incorporates a variety of error trapping facilities, and provides a range of meta-analysis summary statistics. The software is distributed with scripts that allow simple formatting of files containing the results of each association study and generate graphical summaries of genome-wide meta-analysis results.

CONCLUSIONS

The GWAMA (Genome-Wide Association Meta-Analysis) software has been developed to perform meta-analysis of summary statistics generated from genome-wide association studies of dichotomous phenotypes or quantitative traits. Software with source files, documentation and example data files are freely available online at http://www.well.ox.ac.uk/GWAMA.

摘要

背景

尽管全基因组关联研究最近在鉴定对复杂人类特征(如 2 型糖尿病和肥胖症)有影响的新基因座方面取得了成功,但这些表型变异的遗传成分仍有很大一部分尚未得到解释。通过对来自同一人群的研究进行荟萃分析来提高检测新基因座的能力是一种方法,这可以增加每个单独研究的样本量。尽管统计软件分析软件包中包含荟萃分析的例程,但它们无法应对全基因组关联研究中产生的大规模和复杂性数据的挑战。

结果

我们开发了用于全基因组关联研究荟萃分析的灵活的开源软件。该软件包含各种错误捕获设施,并提供了一系列荟萃分析汇总统计信息。该软件随附的脚本允许简单地格式化包含每个关联研究结果的文件,并生成全基因组荟萃分析结果的图形摘要。

结论

GWAMA(全基因组关联荟萃分析)软件是为对二分类表型或数量性状的全基因组关联研究生成的汇总统计信息进行荟萃分析而开发的。带有源代码文件、文档和示例数据文件的软件可在 http://www.well.ox.ac.uk/GWAMA 上免费获得。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ba9/2893603/6184fe430116/1471-2105-11-288-1.jpg

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