nf-core_modules/modules/gatk4/applyvqsr/meta.yml

89 lines
3.1 KiB
YAML
Raw Permalink Normal View History

name: gatk4_applyvqsr
description: |
Apply a score cutoff to filter variants based on a recalibration table.
AplyVQSR performs the second pass in a two-stage process called Variant Quality Score Recalibration (VQSR).
Specifically, it applies filtering to the input variants based on the recalibration table produced
in the first step by VariantRecalibrator and a target sensitivity value.
keywords:
- gatk4
- applyvqsr
- VQSR
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
licence: ['Apache-2.0']
input:
- meta:
type: map
description: |
Groovy Map containing sample information
e.g. [ id:'test']
- vcf:
type: file
description: VCF file to be recalibrated, this should be the same file as used for the first stage VariantRecalibrator.
pattern: "*.vcf"
- tbi:
type: file
description: Tbi index for the input vcf file.
pattern: "*.vcf.tbi"
- recal:
type: file
description: Recalibration file produced when the input vcf was run through VariantRecalibrator in stage 1.
pattern: "*.recal"
- recalidx:
type: file
description: Index file for the recalibration file.
pattern: ".recal.idx"
- tranches:
type: boolean
description: Tranches file produced when the input vcf was run through VariantRecalibrator in stage 1.
pattern: ".tranches"
- fasta:
type: file
description: The reference fasta file
pattern: "*.fasta"
- fai:
type: file
description: Index of reference fasta file
pattern: "*.fasta.fai"
- dict:
type: file
description: GATK sequence dictionary
pattern: "*.dict"
- allelespecific:
type: boolean
description: Whether or not to run ApplyVQSR in allele specific mode, this should be kept the same as the stage 1 VariantRecalibrator run.
pattern: "{true,false}"
- truthsensitivity:
type: double
description: Value to be used as the truth sensitivity cutoff score.
pattern: "99.0"
- mode:
type: String
description: Specifies which recalibration mode to employ, should be the same as the stage 1 VariantRecalibrator run. (SNP is default, BOTH is intended for testing only)
pattern: "{SNP,INDEL,BOTH}"
output:
- vcf:
type: file
description: compressed vcf file containing the recalibrated variants.
pattern: "*.vcf.gz"
- tbi:
type: file
description: Index of recalibrated vcf file.
pattern: "*vcf.gz.tbi"
- versions:
type: file
description: File containing software versions.
pattern: "versions.yml"
authors:
- "@GCJMackenzie"