2021-09-13 15:16:23 +00:00
|
|
|
name: gatk4_mutect2
|
|
|
|
description: Call somatic SNVs and indels via local assembly of haplotypes.
|
|
|
|
keywords:
|
|
|
|
- gatk4
|
|
|
|
- mutect2
|
|
|
|
- haplotype
|
|
|
|
- somatic
|
|
|
|
tools:
|
|
|
|
- gatk4:
|
|
|
|
description: |
|
|
|
|
Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools
|
|
|
|
with a primary focus on variant discovery and genotyping. Its powerful processing engine
|
|
|
|
and high-performance computing features make it capable of taking on projects of any size.
|
|
|
|
homepage: https://gatk.broadinstitute.org/hc/en-us
|
|
|
|
documentation: https://gatk.broadinstitute.org/hc/en-us/categories/360002369672s
|
|
|
|
doi: 10.1158/1538-7445.AM2017-3590
|
|
|
|
|
|
|
|
input:
|
|
|
|
- meta:
|
|
|
|
type: map
|
|
|
|
description: |
|
|
|
|
Groovy Map containing sample information
|
|
|
|
e.g. [ id:'test']
|
|
|
|
- bam:
|
|
|
|
type: list
|
|
|
|
description: list of BAM files
|
|
|
|
pattern: "*.bam"
|
|
|
|
- bai:
|
|
|
|
type: list
|
|
|
|
description: list of BAM file indexes
|
|
|
|
pattern: "*.bam.bai"
|
|
|
|
- which_norm:
|
|
|
|
type: list
|
|
|
|
description: optional list of sample headers contained in the normal sample bam files (these are required for tumor_normal_pair mode)
|
|
|
|
- run_single:
|
|
|
|
type: boolean
|
|
|
|
description: Specify whether or not to run in tumor_single mode instead of tumor_normal_pair mode (will be ignored if run_pon is also true)
|
|
|
|
- run_pon:
|
|
|
|
type: boolean
|
|
|
|
description: Specify whether or not to run in panel_of_normal mode instead of tumor_normal_pair mode
|
|
|
|
- fasta:
|
|
|
|
type: file
|
|
|
|
description: The reference fasta file
|
|
|
|
pattern: "*.fasta"
|
|
|
|
- fastaidx:
|
|
|
|
type: file
|
|
|
|
description: Index of reference fasta file
|
|
|
|
pattern: "fasta.fai"
|
|
|
|
- dict:
|
|
|
|
type: file
|
|
|
|
description: GATK sequence dictionary
|
|
|
|
pattern: "*.dict"
|
|
|
|
- germline_resource:
|
|
|
|
type: file
|
|
|
|
description: Population vcf of germline sequencing, containing allele fractions.
|
|
|
|
pattern: "*.vcf.gz"
|
|
|
|
- germline_resource_idx:
|
|
|
|
type: file
|
|
|
|
description: Index file for the germline resource.
|
|
|
|
pattern: "*.vcf.gz_tbi"
|
|
|
|
- panel_of_normals:
|
|
|
|
type: file
|
|
|
|
description: vcf file to be used as a panel of normals.
|
|
|
|
pattern: "*.vcf.gz"
|
|
|
|
- panel_of_normals_idx:
|
|
|
|
type: file
|
|
|
|
description: Index for the panel of normals.
|
|
|
|
pattern: "*.vcf.gz_tbi"
|
|
|
|
|
|
|
|
output:
|
|
|
|
- vcf:
|
|
|
|
type: file
|
|
|
|
description: compressed vcf file
|
|
|
|
pattern: "*.vcf.gz"
|
|
|
|
- tbi:
|
|
|
|
type: file
|
|
|
|
description: Index of vcf file
|
|
|
|
pattern: "*vcf.gz.tbi"
|
2021-09-17 08:56:56 +00:00
|
|
|
- stats:
|
|
|
|
type: file
|
|
|
|
description: Stats file that pairs with output vcf file
|
|
|
|
pattern: "*vcf.gz.stats"
|
2021-09-13 15:16:23 +00:00
|
|
|
- f1r2:
|
|
|
|
type: file
|
|
|
|
description: file containing information to be passed to LearnReadOrientationModel (only outputted when tumor_normal_pair mode is run)
|
|
|
|
pattern: "*.f1r2.tar.gz"
|
|
|
|
- version:
|
|
|
|
type: file
|
|
|
|
description: File containing software version
|
|
|
|
pattern: "*.version.txt"
|
|
|
|
|
|
|
|
authors:
|
|
|
|
- "@GCJMackenzie"
|