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Warning!

Puhti and Mahti computing services have been decommissioned and no new jobs are accepted or executed on its compute nodes. Puhti and Mahti login nodes and storage services are planned to remain available until 15 October 2026. Clean up unnecessary files and move any data you need to keep by 31 August 2026. See the Roihu data migration guide for instructions on transferring your data to Roihu.

VCFtools

VCFtools is a program package designed for working with VCF files, such as those generated by the 1000 Genomes Project. It provides tools for filtering, comparing and computing statistics on variant call data, as well as a set of Perl modules and scripts (vcf-*).

License

Free to use and open source under GNU LGPLv3.

Available

  • Roihu: 0.1.17, via the bio-apps module.

Usage

VCFtools is part of the bio-apps collection on Roihu. Load the bio-apps module tree and then the VCFtools module:

module load bio-apps/v202603
module load vcftools/0.1.17

The main program is vcftools. For example, to keep only biallelic SNPs and write a new VCF:

vcftools --gzvcf input.vcf.gz --remove-indels --min-alleles 2 --max-alleles 2 --recode --out filtered

The accompanying Perl scripts (such as vcf-sort and vcf-concat) are also available; the module sets PERL5LIB so they find the bundled Vcf.pm module.

Example batch script

#!/bin/bash
#SBATCH --job-name=vcftools
#SBATCH --account=<project>
#SBATCH --output=output_%j.txt
#SBATCH --error=errors_%j.txt
#SBATCH --partition=small
#SBATCH --time=02:00:00
#SBATCH --nodes=1
#SBATCH --ntasks=1
#SBATCH --cpus-per-task=1
#SBATCH --mem=4G

module load bio-apps/v202603
module load vcftools/0.1.17

vcftools --gzvcf input.vcf.gz --remove-indels --min-alleles 2 --max-alleles 2 --recode --out filtered

Replace <project> with your CSC project (for example project_2001234).

See creating a batch job script for Roihu for more information about running batch jobs.

Support

CSC Service Desk

More information