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A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
ShinyGAStool: A user-friendly tool for candidate gene association studies
Thomas J Hoffmann1,2,3, Christine Miaskowski3,4, Kord M Kober3,4,5
1Department of Epidemiology and Biostatistics, University of California, San Francisco, CA.
Summary
shinyGAStool simplifies complex genetic analysis. This open-source tool allows users to easily perform candidate gene association studies on large datasets through a web browser interface.
Area of Science:
- Genetics
- Bioinformatics
- Computational Biology
Background:
- Analyzing genotyping and sequencing data is often hindered by complex bioinformatics tools.
- There is a need for user-friendly solutions to facilitate genetic association studies.
Purpose of the Study:
- To develop an accessible, open-source tool for candidate gene association analysis.
- To simplify the process of linking genetic variants to phenotypes using large datasets.
Main Methods:
- Developed shinyGAStool, a web-browser based application.
- Implemented a 3-step workflow: data exploration, gene/variant selection, and association analysis.
- The tool is designed for ease of use with large genetic datasets.
Main Results:
- shinyGAStool provides an intuitive interface for exploring phenotype and covariate distributions.
- Users can efficiently select relevant genes and variants for analysis.
- The tool facilitates the execution of association analyses linking genetic data with phenotypic traits.
Conclusions:
- shinyGAStool significantly lowers the barrier to performing candidate gene association studies.
- This tool empowers researchers to analyze large genetic datasets more effectively.
- Open-source accessibility promotes wider adoption and collaboration in genetic research.
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