Description

Perform variant calling on a paired tumor normal set of samples using mutect2 tumor normal mode. f1r2 output of mutect2 is run through learnreadorientationmodel to get the artifact priors. Run the input bam files through getpileupsummarries and then calculatecontamination to get the contamination and segmentation tables. Filter the mutect2 output vcf using filtermutectcalls, artifact priors and the contamination & segmentation tables for additional filtering.

Input

name
description
pattern

ch_input

The tumor and normal BAM files, in that order, also able to take CRAM as an input
Can contain an optional list of sample headers contained in the normal sample input file.

Structure: [ val(meta), path(input), path(input_index), val(which_norm) ]

ch_fasta

The reference fasta file

Structure: [ val(meta), path(fasta) ]

ch_fai

Index of reference fasta file, and the gzip index when the reference is compressed

Structure: [ val(meta), path(fai), path(gzi) ]

ch_dict

GATK sequence dictionary

Structure: [ val(meta), path(dict) ]

ch_alleles

VCF file to be used for force calling of alleles.

Structure: [ path(alleles) ]

ch_alleles_tbi

Index of VCF file of alleles for force calling.

Structure: [ path(alleles_tbi) ]

ch_germline_resource

Population vcf of germline sequencing, containing allele fractions.

Structure: [ path(germline_resources) ]

ch_germline_resource_tbi

Index file for the germline resource.

Structure: [ path(germline_resources_tbi) ]

ch_panel_of_normals

Vcf file to be used as a panel of normals.

Structure: [ path(panel_of_normals) ]

ch_panel_of_normals_tbi

Index for the panel of normals.

Structure: [ path(panel_of_normals_tbi) ]

ch_interval_file

File containing intervals.

Structure: [ path(interval_files) ]

Output

name
description
pattern

artifact_priors

File containing artifact-priors to be used by filtermutectcalls.

Structure: [ val(meta), path(artifact_priors) ]

contamination_table

File containing the contamination table.

Structure: [ val(meta), path(table) ]

filtered_stats

File containing statistics of the filtermutectcalls run.

Structure: [ val(meta), path(stats) ]

filtered_tbi

Tbi file that pairs with filtered vcf.

Structure: [ val(meta), path(tbi) ]

filtered_vcf

File containing filtered mutect2 calls.

Structure: [ val(meta), path(vcf) ]

mutect2_f1r2

File containing information to be passed to LearnReadOrientationModel.

Structure: [ val(meta), path(f1r2) ]

mutect2_stats

Stats files for the mutect2 vcf

Structure: [ val(meta), path(stats) ]

mutect2_tbi

Indexes of the mutect2_vcf file

Structure: [ val(meta), path(tbi) ]

mutect2_vcf

Compressed vcf file to be used for variant_calling.

Structure: [ val(meta), path(vcf) ]

pileup_table_normal

File containing the normal pileup summary table, kept separate as calculatecontamination needs them individually specified.

Structure: [ val(meta), path(table) ]

pileup_table_tumor

File containing the tumor pileup summary table, kept separate as calculatecontamination needs them individually specified.

Structure: [ val(meta), path(table) ]

segmentation_table

Output table containing segmentation of tumor minor allele fractions.

Structure: [ val(meta), path(table) ]