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eQTL Mapping Pipeline



About it

This pipeline was developd for eQTL calling for the DICE Tissue project (unpublished). It was implemented using Snakemake v7.14.0 workflow manager. Cluster configuration file (cluster.json) needs to be modified according to the cluster/cloud enviroment to work properly.

Linear models are fitted using MatrixeQTL and two different multiple correction methods are included: eigenMT and a permutation-based method. The last one requires more computational resources and time to evaluate 1,000 (default) permutations.

Pipeline setup

In order to properly run the pipeline three environment are provided. Snakemake would automatically set the environments to run specific steps.

  • DLCP.yaml
  • pyEigenMT.yaml
  • bcftools.yaml

Data preparation

Config file:

Configuration file snake_conf.yaml has to be in the same folder as the Snakefile. Make proper changes to it. Files needed are explained below.

Covariates file:

Tab separated file with donors in the columns and covariates in the rows. This is a general covariates file, PEER Factors and PCs will be added within the pipeline.

Snpfiles file:

Tab separated file with the location of genotype files in matrix eQTL format:

CHR SNP SNP_LOC
1 SNPFILE.txt SNPLOC.txt
2 SNPFILE.txt SNPLOC.txt

Both files need to be prepared followed matrix eQTL toy dataset. SNPFILE.txt & SNPLOC.txt

DATASETS file:

Pipeline runs multiple clusters per cell in parallel. To do that a data set .csv file is needed with the following columns.

cell tissue subset expFile donorFile
CD4 Lung 0 file1.txt donors1.txt
CD4 Lung 1 file2.txt donors2.txt
CD8 Lung 0 file3.txt donors3.txt
  • expFile: Tab separated file with expression data to use for a given cluster in a cell type. Donors in columns and genes in rows. Name of donors and genes are needed.
  • donorFile: List of donors to use in the analysis. Needs to be a set of all donors.

Gene annotation file [geneannot]:

File was prepared following matrix eQTL toy dataset.

NOTES

The bin/ folder needs to be copy to the working directory.

The pbs_submit.sh file shows and example of how the pipeline was run.

Please cite the following manuscript if you are using this repository:

Contact

Please email Cristian Gonzalez-Colin ([email protected]) and/or Vijayanand Pandurangan ([email protected]).