GBAT
GBAT detects high-confidence trans-eQTLs to identify distal genetic regulation of mRNA expression and study transcriptional regulatory influences of distal variants.
Key Features:
- Focus on trans-gene regulation: Targets trans-eQTLs (distal SNP–mRNA associations) as opposed to cis-eQTLs to detect distal regulatory effects.
- Gene-based association approach: Uses a gene-based association testing strategy with statistical rigor to mitigate false positives in high-dimensional genomic data.
- High-quality signal identification: Applies filtering and statistical controls to address the multiple testing burden and produce high-confidence trans-eQTLs.
Scientific Applications:
- Genetic research: Identifies trans-eQTLs to elucidate how distal and non-coding variants influence mRNA abundance and transcriptional regulation.
- Complex trait analysis: Enables investigation of how distant regulatory elements affect gene function and contribute to trait heritability and variation.
- Disease association studies: Facilitates discovery of regulatory variants outside of exons that may contribute to disease susceptibility or progression.
Methodology:
Performs gene-based association testing and implements statistical procedures and filtering to mitigate false positives and the multiple testing burden in high-dimensional genomic data.
Topics
Details
- Tool Type:
- command-line tool, library
- Programming Languages:
- R, Python
- Added:
- 1/18/2021
- Last Updated:
- 1/22/2021
Operations
Publications
Liu X, Mefford JA, Dahl A, He Y, Subramaniam M, Battle A, Price AL, Zaitlen N. GBAT: a gene-based association test for robust detection of trans-gene regulation. Genome Biology. 2020;21(1). doi:10.1186/s13059-020-02120-1. PMID:32831138. PMCID:PMC7444084.