Fast and efficient QTL mapper for thousands of molecular phenotypes

Bioinformatics. 2016 May 15;32(10):1479-85. doi: 10.1093/bioinformatics/btv722. Epub 2015 Dec 26.


Motivation: In order to discover quantitative trait loci, multi-dimensional genomic datasets combining DNA-seq and ChiP-/RNA-seq require methods that rapidly correlate tens of thousands of molecular phenotypes with millions of genetic variants while appropriately controlling for multiple testing.

Results: We have developed FastQTL, a method that implements a popular cis-QTL mapping strategy in a user- and cluster-friendly tool. FastQTL also proposes an efficient permutation procedure to control for multiple testing. The outcome of permutations is modeled using beta distributions trained from a few permutations and from which adjusted P-values can be estimated at any level of significance with little computational cost. The Geuvadis & GTEx pilot datasets can be now easily analyzed an order of magnitude faster than previous approaches.

Availability and implementation: Source code, binaries and comprehensive documentation of FastQTL are freely available to download at

Contact: or

Supplementary information: Supplementary data are available at Bioinformatics online.

MeSH terms

  • Genomics
  • Phenotype
  • Quantitative Trait Loci*
  • Software
  • Statistical Distributions