NAME
FastQTL - Quantitative Trait Loci (QTL) mapper in cis for molecular phenotypes
SYNOPSIS
fastQTL [options]
DESCRIPTION
The goal of FastQTL is to identify single-nucleotide polymorphisms (SNPs) which are significantly associated with various molecular phenotypes (i.e. expression of known genes, cytosine methylation levels, etc). It performs scans for all possible phenotype-variant pairs in cis (i.e. variants located within a specific window around a phenotype). FastQTL implements a new permutation scheme (Beta approximation) to accurately and rapidly correct for multiple-testing at both the genotype and phenotype levels.
OPTIONS
Basic options
- --help
-
Print help about options.
- --silent
-
Silent mode on terminal.
- --seed arg (=1459232241)
-
Random number generator seed. Useful to replicate runs of the software.
Input and Output files options
- -L, --log
-
Screen output is copied in this file.
- -V, --vcf
-
Genotypes in VCF format.
- -B, --bed
-
Phenotypes in BED format.
- -C, --cov
-
Covariates in TXT format.
- -G, --grp
-
Phenotype groups in TXT format.
- -O, --out
-
Output file.
Exclusion and Inclusion files options
- --exclude-samples
-
List of samples to exclude.
- --include-samples
-
List of samples to include.
- --exclude-sites
-
List of sites to exclude.
- --include-sites
-
List of sites to include.
- --exclude-phenotypes
-
List of phenotypes to exclude.
- --include-phenotypes
-
List of phenotypes to include.
- --exclude-covariates
-
List of covariates to exclude.
- --include-covariates
-
List of covariates to include.
Parameters
- --normal
-
To perform quantile normalization on the phenotype quantifications to make them normally distributed. Implemented as the rntransform function of the GenABEL package.
- -W, --window
-
Cis-window size. Default values is 1Mb (1e6). It means that all variants within 1e6 bp of the phenotype location (e.g. TSS) is analyzed.
- -T, --threshold
-
To filter out all phenotype-variant pairs with a p-value above the specified threshold in the output of a nominal pass.
Modes
- -P, --permute
-
Permutation pass to calculate corrected p-values for molecular phenotypes.
- --psequence
-
Permutation sequence.
- --map
-
Map best QTL candidates per molecular phenotype.
- --map-full
-
Scan full cis-window to discover independent signals.
- --interaction
-
Test for interactions with variable specified in file.
Parallelization
- -K, --chunk
-
Specify which chunk needs to be processed.
- --commands
-
Generates all commands.
- -R, --region
-
Region of interest.
EXAMPLE
for c in $(seq 1 256); do
fastQTL --vcf genotypes.vcf.gz
--bed phenotypes.bed.gz
--chunk $c 256
--permute 1000
--out results.$c.txt.gz
done
zcat results.*.txt.gz | gzip -c > fastqtl_expected_output.txt.gz
SEE ALSO
http://fastqtl.sourceforge.net/
AUTHOR
FastQTL was written by Olivier Delaneau, Halit Ongen, Alfonso Buil and Manolis Dermitzakis.
This manual page was written by Dylan Aïssi <[email protected]>, for the Debian project (but may be used by others).