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iarcbioinfo/vcf-isec-nf

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By International Agency for Research on Cancer

•Updated over 3 years ago

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iarcbioinfo/vcf-isec-nf repository overview

⁠Nextflow VCF Intersection Pipeline

Docker Hub

Workflow representation

⁠Description

This Nextflow pipeline performs the intersection of VCF files using bcftools used in Mangiante et al. 2023⁠. It takes genomic VCF files (for example from Mutect and Strelka), extracts SNVs from the first caller, intersects results from the two callers for indels and multinucleotide polymorphisms (MNPs), and creates a concatenated, indexed VCF file containing SNPs from variant caller 1 and intersected indels/MNPs.

⁠Dependencies

  1. This pipeline is based on Nextflow⁠. Please refer to the IARC-nf⁠ repository for installation, basic usage, and configuration information for Nextflow and our pipelines.
  2. External software:
    • bcftools

You can avoid installing all the external software by only installing Docker. See the IARC-nf⁠ repository for more information.

⁠Input

TypeDescription
input_folder1Path to the folder containing VCF files (e.g., outputs from IARCbioinf/mutect2-nf)
input_folder2Path to the folder containing other VCF files (e.g., from IARCbioinf/strelka2-nf)

⁠Parameters

NameDefault valueDescription
--output_folderoutput/Path of the output folder
--vcfSuffix1_snvs_filtered_PASS_norm.vcf.hg38_multianno.vcf.gzSuffix of first SNV VCF files
--vcfSuffix1_indels_filtered_PASS_norm.vcf.hg38_multianno.vcf.gzSuffix of first indel VCF files
--vcfSuffix2_snvs.somatic.snvs_norm.vcfSuffix of second SNV VCF files
--vcfSuffix2_indels.somatic.indels_norm.vcfSuffix of second indel VCF files

Of note, if SNV and indel suffixes for the first or second set of VCFs are different, they are first merged; for example, by default strelka snv and indel VCFs are merged but mutect VCFs are assumed to contain all types of variants.

Flags are special parameters without a value.

NameDescription
--helpDisplay help

⁠Usage

nextflow run IARCbioinfo/VCF-isec-nf --input_folder1 Mutect_results/ --input_folder2 strelka_results/ --outputFolder Mutect_strelka_intersection

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over 3 years ago

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