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

dc.contributor.authorRodriguez-Hernandez, Zulema
dc.contributor.authorGorski, Mathias
dc.contributor.authorTellez-Plaza, Maria
dc.contributor.authorSchlosser, Pascal
dc.contributor.authorWuttke, Matthias
dc.contributor.funderDeutsche Forschungsgemeinschaft (Alemania)
dc.contributor.funderNational Institutes of Health (Estados Unidos)
dc.contributor.funderAgencia Estatal de Investigación (España)
dc.contributor.funderMinisterio de Ciencia e Innovación (España)
dc.contributor.funderEuropean Molecular Biology Organization
dc.date.accessioned2024-11-08T09:09:31Z
dc.date.available2024-11-08T09:09:31Z
dc.date.issued2024-05-02
dc.description.abstractSummary: 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.
dc.description.peerreviewed
dc.description.sponsorshipThe work of P.S. was supported by the German Research Foundation (Deutsche Forschungsgemeinschaft, DFG) Project ID 523737608 (SCHL 2292/2–1), 530592017 (SCHL 2292/3–1) and Germany’s Excellence Strategy (CIBSS-EXC-2189-Project-ID 390939984). The work of P.S. and M.W. was supported by the DFG Project ID 431984000, SFB 1453. The work of M.G. was funded by the DFG Project-ID 387509280, SFB 1350; Project-ID 509149993, TRR 374 and by the National Institutes of Health (NIH R01 EY RES 511967 and 516564). Z.R-H received a fellowship associated to a National Research Agency project (PRE2020-093926; PID2019-108973RB-C21) funded by Ministerio de Ciencia e Innovación (Spain), and a EMBO Scientific Exchange Grant (number: 10351, 2023).
dc.format.number5
dc.format.pagebtae294
dc.format.volume40
dc.identifier.citationBioinformatics. 2024 May 2;40(5):btae294.
dc.identifier.doi10.1093/bioinformatics/btae294
dc.identifier.e-issn1367-4811
dc.identifier.issn1367-4803
dc.identifier.journalBioinformatics (Oxford, England)
dc.identifier.pubmedID38688567
dc.identifier.urihttps://hdl.handle.net/20.500.12105/25458
dc.language.isoeng
dc.publisherOxford University Press
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/PRE2020-093926
dc.relation.projectIDinfo:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2019-108973RB-C21/ES/ESTUDIO DE ALEATORIZACION MENDELIANA DEL SELENIO Y FACTORES RELACIONADOS CON LA DIABETES: UN ENFOQUE INTEGRADOR/
dc.relation.publisherversionhttps://doi.org/10.1093/bioinformatics/btae294
dc.repisalud.centroISCIII::Centro Nacional de Epidemiología (CNE)
dc.repisalud.institucionISCIII
dc.rights.accessRightsopen access
dc.rights.licenseAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshGenome-Wide Association Study
dc.subject.meshHumans
dc.subject.meshMeta-Analysis as Topic
dc.subject.meshPhenotype
dc.subject.meshSoftware
dc.subject.meshWorkflow
dc.titlemetaGWASmanager: a toolbox for an automated workflow from phenotypes to meta-analysis in GWAS consortia
dc.typeresearch article
dc.type.hasVersionVoR
dspace.entity.typePublication
relation.isAuthorOfPublicationd150e24f-1936-4484-bc18-c106e097cf25
relation.isAuthorOfPublication0ff1ae79-727d-45dc-809f-c6dc87c2b66a
relation.isAuthorOfPublication.latestForDiscoveryd150e24f-1936-4484-bc18-c106e097cf25

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