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.

PMID: 32831138
PMCID: PMC7444084
Funding: - National Institute of Mental Health: MH115676