Publication: metaGWASmanager: a toolbox for an automated workflow from phenotypes to meta-analysis in GWAS consortia
| dc.contributor.author | Rodriguez-Hernandez, Zulema | |
| dc.contributor.author | Gorski, Mathias | |
| dc.contributor.author | Tellez-Plaza, Maria | |
| dc.contributor.author | Schlosser, Pascal | |
| dc.contributor.author | Wuttke, Matthias | |
| dc.contributor.funder | Deutsche Forschungsgemeinschaft (Alemania) | |
| dc.contributor.funder | National Institutes of Health (Estados Unidos) | |
| dc.contributor.funder | Agencia Estatal de Investigación (España) | |
| dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | |
| dc.contributor.funder | European Molecular Biology Organization | |
| dc.date.accessioned | 2024-11-08T09:09:31Z | |
| dc.date.available | 2024-11-08T09:09:31Z | |
| dc.date.issued | 2024-05-02 | |
| dc.description.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. | |
| dc.description.peerreviewed | Sí | |
| dc.description.sponsorship | The 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.number | 5 | |
| dc.format.page | btae294 | |
| dc.format.volume | 40 | |
| dc.identifier.citation | Bioinformatics. 2024 May 2;40(5):btae294. | |
| dc.identifier.doi | 10.1093/bioinformatics/btae294 | |
| dc.identifier.e-issn | 1367-4811 | |
| dc.identifier.issn | 1367-4803 | |
| dc.identifier.journal | Bioinformatics (Oxford, England) | |
| dc.identifier.pubmedID | 38688567 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12105/25458 | |
| dc.language.iso | eng | |
| dc.publisher | Oxford University Press | |
| dc.relation.projectID | info:eu-repo/grantAgreement/ES/PRE2020-093926 | |
| dc.relation.projectID | info: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.publisherversion | https://doi.org/10.1093/bioinformatics/btae294 | |
| dc.repisalud.centro | ISCIII::Centro Nacional de Epidemiología (CNE) | |
| dc.repisalud.institucion | ISCIII | |
| dc.rights.accessRights | open access | |
| dc.rights.license | Attribution 4.0 International | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
| dc.subject.mesh | Genome-Wide Association Study | |
| dc.subject.mesh | Humans | |
| dc.subject.mesh | Meta-Analysis as Topic | |
| dc.subject.mesh | Phenotype | |
| dc.subject.mesh | Software | |
| dc.subject.mesh | Workflow | |
| dc.title | metaGWASmanager: a toolbox for an automated workflow from phenotypes to meta-analysis in GWAS consortia | |
| dc.type | research article | |
| dc.type.hasVersion | VoR | |
| dspace.entity.type | Publication | |
| relation.isAuthorOfPublication | d150e24f-1936-4484-bc18-c106e097cf25 | |
| relation.isAuthorOfPublication | 0ff1ae79-727d-45dc-809f-c6dc87c2b66a | |
| relation.isAuthorOfPublication.latestForDiscovery | d150e24f-1936-4484-bc18-c106e097cf25 |


