Integrative Epidemiology Group, Department of Chronic Diseases Epidemiology, National Center for Epidemiology, Carlos III Health Institutes, Madrid, 28029, Spain.
Department of Biotechnology, Universitat Politècnica de València, Valencia, 46022, Spain.
Bioinformatics. 2024 May 2;40(5). doi: 10.1093/bioinformatics/btae294.
This article introduces the metaGWASmanager, which streamlines genome-wide association studies within large-scale meta-analysis consortia. It is a toolbox for both the central consortium analysis group and participating studies to generate homogeneous phenotypes, minimize unwanted variability from inconsistent methodologies, ensure high-quality association results, and implement time-efficient quality control workflows. The toolbox features a plug-in-based approach for customization of association testing.
The metaGWASmanager toolbox has been successfully deployed in both the CKDGen and MetalGWAS Initiative consortia across hundreds of participating studies, demonstrating its effectiveness in GWAS analysis optimization by automating routine tasks and ensuring the value and reliability of association results, thus, ultimately promoting scientific discovery. We provide a simulated data set with examples for script customization so that readers can reproduce the pipeline at their convenience.
本文介绍了 metaGWASmanager，它简化了大型荟萃分析联盟中的全基因组关联研究。它是中央联盟分析组和参与研究的工具包，用于生成同质表型，最小化不一致方法学引起的不必要的变异性，确保高质量的关联结果，并实施高效的质量控制工作流程。该工具包采用插件式方法来定制关联测试。
metaGWASmanager 工具包已成功部署在 CKDGen 和 MetalGWAS Initiative 联盟中的数百个参与研究中，通过自动化常规任务和确保关联结果的价值和可靠性，展示了其在 GWAS 分析优化方面的有效性，从而最终促进了科学发现。我们提供了一个带有示例脚本定制的模拟数据集，以便读者可以根据需要重现该流程。
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