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Updated: Jul 17, 2025

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A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
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PSF toolkit: an R package for pathway curation and topology-aware analysis
Siras Hakobyan1,2, Ani Stepanyan3, Lilit Nersisyan2
1Bioinformatics Group, Institute of Molecular Biology, Armenian National Academy of Sciences, Yerevan, Armenia.
Frontiers in Genetics
|September 8, 2023
Summary
The Pathway Signal Flow (PSF) toolkit R package enhances genomic data analysis by integrating pathway curation with topology-based methods. It offers a flexible, accessible approach for detailed pathway signal flow analysis, improving upon traditional methods.
Area of Science:
- Bioinformatics
- Computational Biology
- Genomics
Background:
- High-throughput genomic data analysis often uses Over-Representation Analysis/Gene Set Enrichment Analysis (ORA/GSEA).
- Topology-based pathway analysis, while more informative, is underutilized due to accessibility and quality issues with pathway topologies.
Purpose of the Study:
- To introduce the Pathway Signal Flow (PSF) toolkit R package for accessible and flexible topology-aware pathway analysis.
- To integrate pathway curation with topology-based analysis, addressing limitations of existing methods.
Main Methods:
- Developed the PSF toolkit R package with interactive and command-line tools for pathway importation, correction, and modification.
- Curated 36 KEGG signaling pathways and performed comparative analyses with ORA and Signaling Pathway Impact Analysis (SPIA).
Main Results:
- The PSF toolkit effectively identifies ORA-enriched pathways and provides detailed branch-level information.
- PSF analysis is cut-off free and less susceptible to threshold variability compared to SPIA.
- Demonstrated enhanced quality, flexibility, and accessibility in topology-aware pathway analysis.
Conclusions:
- The PSF toolkit offers an integrated solution for pathway curation and topology-based signal flow analysis.
- Empowers researchers with tools for comprehensive pathway analyses across diverse applications.
- Improves upon traditional ORA/GSEA and topology-based methods like SPIA.
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