Related Experiment Video
Updated: Jun 27, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
An analysis pipeline for genome-wide association studies
Stefan Stefanov1, James Lautenberger, Bert Gold
1Human Genetics Section, Laboratory of Experimental Immunology, National Cancer Institute at Frederick, Frederick, MD 21702, USA.
We created an efficient pipeline for analyzing genome-wide association study (GWAS) single nucleotide polymorphism (SNP) data. This system facilitates comprehensive analysis and visualization, enabling on-the-fly re-analysis of genetic data.
Area of Science:
- Genetics
- Bioinformatics
- Computational Biology
Background:
- Genome-wide association studies (GWAS) generate large datasets of single nucleotide polymorphism (SNP) data.
- Efficient analysis and visualization pipelines are crucial for interpreting GWAS results.
- Existing methods may lack comprehensive statistical analysis and user-friendly data access.
Purpose of the Study:
- To develop an efficient computational pipeline for analyzing GWAS SNP scan results.
- To enable comprehensive statistical analysis and visualization of genetic association data.
- To facilitate on-the-fly re-analysis of case and control genotypes.
Main Methods:
- Developed Perl scripts for genotype data conversion (BRLMM to PB format).
- Computed summary statistics, association tests (exact, Cochran-Armitage), and linkage disequilibrium.
- Integrated results into a MySQL database with Generic Genome Browser (gbrowse) for visualization.
Main Results:
- An efficient pipeline for GWAS SNP analysis was successfully developed.
- Comprehensive summary statistics and association tests were computed.
- A visualization tool with data download and re-analysis capabilities was implemented.
Conclusions:
- The developed pipeline provides an efficient and comprehensive approach to GWAS data analysis.
- The integrated browser facilitates data exploration and on-the-fly re-analysis for researchers.
- This tool enhances the utility and accessibility of GWAS findings.
More Related Videos
08:27Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
Published on: July 27, 2021
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Genome Annotation and Assembly
Evolutionary Relationships through Genome Comparisons