Meta-eQTL: a tool set for flexible eQTL meta-analysis

BMC Bioinformatics. 2014 Nov 28;15(1):392. doi: 10.1186/s12859-014-0392-0.

Abstract

Background: Increasing number of eQTL (Expression Quantitative Trait Loci) datasets facilitate genetics and systems biology research. Meta-analysis tools are in need to jointly analyze datasets of same or similar issue types to improve statistical power especially in trans-eQTL mapping. Meta-analysis framework is also necessary for ChrX eQTL discovery.

Results: We developed a novel tool, meta-eqtl, for fast eQTL meta-analysis of arbitrary sample size and arbitrary number of datasets. Further, this tool accommodates versatile modeling, eg. non-parametric model and mixed effect models. In addition, meta-eqtl readily handles calculation of chrX eQTLs.

Conclusions: We demonstrated and validated meta-eqtl as fast and comprehensive tool to meta-analyze multiple datasets and ChrX eQTL discovery. Meta-eqtl is a set of command line utilities written in R, with some computationally intensive parts written in C. The software runs on Linux platforms and is designed to intelligently adapt to high performance computing (HPC) cluster. We applied the novel tool to liver and adipose tissue data, and revealed eSNPs underlying diabetes GWAS loci.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, X / genetics
  • Diabetes Mellitus / genetics
  • Dual-Specificity Phosphatases / genetics
  • Female
  • Genome-Wide Association Study
  • Humans
  • Liver / metabolism
  • Male
  • Meta-Analysis as Topic
  • Mitogen-Activated Protein Kinase Phosphatases / genetics
  • Models, Theoretical*
  • Quantitative Trait Loci*
  • Software*

Substances

  • Mitogen-Activated Protein Kinase Phosphatases
  • DUSP9 protein, human
  • Dual-Specificity Phosphatases