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"