MARSweb: a fully automated web service for set-based association testing

Abstract Background Despite the successes in GWAS, there is still a large gap between the known heritability and the part explained by the SNPs identified by GWAS. Set-based analysis is one of the approaches that has tried to identify associations between multiple variants in a locus a trait, levera...

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Main Authors: Taegun Kim, Jaeseung Song, Jong Wha J. Joo
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Genomics
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Online Access:https://doi.org/10.1186/s12864-025-11356-9
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author Taegun Kim
Jaeseung Song
Jong Wha J. Joo
author_facet Taegun Kim
Jaeseung Song
Jong Wha J. Joo
author_sort Taegun Kim
collection DOAJ
description Abstract Background Despite the successes in GWAS, there is still a large gap between the known heritability and the part explained by the SNPs identified by GWAS. Set-based analysis is one of the approaches that has tried to identify associations between multiple variants in a locus a trait, leveraging allelic heterogeneity to increase power in association testing. MARS is a set-based analysis method that integrates likelihood ratio test with a recently developed fine mapping technique to accurately account for causal status of variants in a risk locus. Unfortunately, due to its complex running process, time complexity, and the requirement of high-performance computing resources, it is not widely used. Results To address these issues, we proposed a fully automated web-based analysis service, MARSweb. By providing a web service, we minimized the effort required for initial configuration. Additionally, users can perform analyses by simply uploading their data without needing to familiarize themselves with intricate analysis procedures. Furthermore, it facilitates easier interpretation of results by integrating advanced visualization tools. We confirmed the performance of MARSweb by detecting eGenes and performing pathway analysis of the genes using a Yeast Dataset. Conclusions MARSweb is a web-based analysis service that fully automates set-based analysis. It offers an intuitive user interface, making complex analyses more accessible while significantly reducing processing time for enhanced efficiency. MARSweb is available for use at http://cblab.dongguk.edu/MARSweb and its source code is available at https://github.com/DGU-CBLAB/MARSweb .
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spelling doaj-art-1f0f675c8f4548c28eeff237a136d8012025-08-20T03:03:57ZengBMCBMC Genomics1471-21642025-02-012611910.1186/s12864-025-11356-9MARSweb: a fully automated web service for set-based association testingTaegun Kim0Jaeseung Song1Jong Wha J. Joo2Division of AI Software Convergence, Dongguk University-SeoulDepartment of Life Science, Dongguk University-SeoulDivision of AI Software Convergence, Dongguk University-SeoulAbstract Background Despite the successes in GWAS, there is still a large gap between the known heritability and the part explained by the SNPs identified by GWAS. Set-based analysis is one of the approaches that has tried to identify associations between multiple variants in a locus a trait, leveraging allelic heterogeneity to increase power in association testing. MARS is a set-based analysis method that integrates likelihood ratio test with a recently developed fine mapping technique to accurately account for causal status of variants in a risk locus. Unfortunately, due to its complex running process, time complexity, and the requirement of high-performance computing resources, it is not widely used. Results To address these issues, we proposed a fully automated web-based analysis service, MARSweb. By providing a web service, we minimized the effort required for initial configuration. Additionally, users can perform analyses by simply uploading their data without needing to familiarize themselves with intricate analysis procedures. Furthermore, it facilitates easier interpretation of results by integrating advanced visualization tools. We confirmed the performance of MARSweb by detecting eGenes and performing pathway analysis of the genes using a Yeast Dataset. Conclusions MARSweb is a web-based analysis service that fully automates set-based analysis. It offers an intuitive user interface, making complex analyses more accessible while significantly reducing processing time for enhanced efficiency. MARSweb is available for use at http://cblab.dongguk.edu/MARSweb and its source code is available at https://github.com/DGU-CBLAB/MARSweb .https://doi.org/10.1186/s12864-025-11356-9GWASAllelic heterogeneitySet-based analysisLikelihood ratio testWeb-based
spellingShingle Taegun Kim
Jaeseung Song
Jong Wha J. Joo
MARSweb: a fully automated web service for set-based association testing
BMC Genomics
GWAS
Allelic heterogeneity
Set-based analysis
Likelihood ratio test
Web-based
title MARSweb: a fully automated web service for set-based association testing
title_full MARSweb: a fully automated web service for set-based association testing
title_fullStr MARSweb: a fully automated web service for set-based association testing
title_full_unstemmed MARSweb: a fully automated web service for set-based association testing
title_short MARSweb: a fully automated web service for set-based association testing
title_sort marsweb a fully automated web service for set based association testing
topic GWAS
Allelic heterogeneity
Set-based analysis
Likelihood ratio test
Web-based
url https://doi.org/10.1186/s12864-025-11356-9
work_keys_str_mv AT taegunkim marswebafullyautomatedwebserviceforsetbasedassociationtesting
AT jaeseungsong marswebafullyautomatedwebserviceforsetbasedassociationtesting
AT jongwhajjoo marswebafullyautomatedwebserviceforsetbasedassociationtesting