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

초록

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. © The Author(s) 2025.

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