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Updated: Apr 23, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information
Published on: July 1, 2020
Enlight: web-based integration of GWAS results with biological annotations
Yunfei Guo1, David V Conti1, Kai Wang2
1Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA 90033, Department of Preventive Medicine, USC Keck School of Medicine, Los Angeles, CA 90032 and Department of Psychiatry & Behavioral Sciences, USC Keck School of Medicine, Los Angeles, CA 90033, USA Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA 90033, Department of Preventive Medicine, USC Keck School of Medicine, Los Angeles, CA 90032 and Department of Psychiatry & Behavioral Sciences, USC Keck School of Medicine, Los Angeles, CA 90033, USA.
Enlight is a web tool that helps researchers interpret genome-wide association study (GWAS) results. It overlays functional data to identify causal single-nucleotide polymorphisms (SNPs) in non-coding regions.
Area of Science:
- Genomics
- Bioinformatics
- Computational Biology
Background:
- Identifying causal variants after genome-wide association studies (GWAS) is challenging.
- Many significant single-nucleotide polymorphisms (SNPs) are located in non-coding regions, complicating functional interpretation.
Purpose of the Study:
- To develop a tool for integrating functional genomic data with GWAS results.
- To aid researchers in pinpointing causal variants and understanding their functional implications.
Main Methods:
- Created Enlight, a web-based tool.
- Enlight overlays diverse functional annotation data onto GWAS results.
- Functional data includes histone modifications, methylation patterns, transcription factor binding sites, eQTLs, and chromosomal structures.
Main Results:
- Enlight provides a unified platform for exploring functional genomics data in the context of GWAS.
- Facilitates the association of statistical significance with predicted functionality for SNPs.
- Aids in prioritizing candidate causal variants.
Conclusions:
- Enlight enhances the interpretation of GWAS findings by integrating multi-omics functional data.
- The tool assists in navigating the complexities of non-coding variants.
- Enlight is accessible online for the research community.
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