metaGWASmanager: a toolbox for an automated workflow from phenotypes to meta-analysis in GWAS consortia

Author:

Rodriguez-Hernandez Zulema123ORCID,Gorski Mathias4,Tellez-Plaza Maria1,Schlosser Pascal356,Wuttke Matthias3

Affiliation:

1. Integrative Epidemiology Group, Department of Chronic Diseases Epidemiology, National Center for Epidemiology, Carlos III Health Institutes , Madrid, 28029, Spain

2. Department of Biotechnology, Universitat Politècnica de València , Valencia, 46022, Spain

3. Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center—University of Freiburg , Freiburg, 79106, Germany

4. Department of Genetic Epidemiology, University of Regensburg , Regensburg, 93053, Germany

5. Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health , Baltimore, MD, 21287, USA

6. Centre for Integrative Biological Signalling Studies (CIBSS), University of Freiburg , Freiburg, 79104, Germany

Abstract

Abstract Summary 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. Results 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. Availability and implementation GitHub: https://github.com/genepi-freiburg/metaGWASmanager

Funder

German Research Foundation

Publisher

Oxford University Press (OUP)

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