name: "rtgtools_vcfeval" description: The VCFeval tool of RTG tools. It is used to evaluate called variants for agreement with a baseline variant set keywords: - benchmarking - vcf - rtg-tools tools: - "rtgtools": description: "RealTimeGenomics Tools -- Utilities for accurate VCF comparison and manipulation" homepage: "https://www.realtimegenomics.com/products/rtg-tools" documentation: "https://github.com/RealTimeGenomics/rtg-tools" tool_dev_url: "https://github.com/RealTimeGenomics/rtg-tools" doi: "" licence: "['BSD']" input: - meta: type: map description: | Groovy Map containing sample information e.g. [ id:'test', single_end:false ] - truth_vcf: type: file description: A standard VCF to compare against pattern: "*.{vcf,vcf.gz}" - truth_vcf_index: type: file description: The index of the standard VCF (optional) pattern: "*.tbi" - query_vcf: type: file description: A VCF with called variants to benchmark against the standard pattern: "*.{vcf,vcf.gz}" - query_vcf_index: type: file description: The index of the called VCF (optional) pattern: "*.tbi" - truth_regions: type: file description: A BED file containining the strict regions where VCFeval should only evaluate the fully overlapping variants (optional) pattern: "*.bed" - evaluation_regions: type: file description: A BED file containing the regions where VCFeval will evaluate every fully and partially overlapping variant (optional) pattern: "*.bed" - sdf: type: file description: The SDF (RTG Sequence Data File) folder of the reference genome pattern: "*" output: - meta: type: map description: | Groovy Map containing sample information e.g. [ id:'test', single_end:false ] - versions: type: file description: File containing software versions pattern: "versions.yml" - logging: type: file description: Files containing logging from vcfeval pattern: "*{done,progress,.log}" - tp: type: file description: A tuple containing the VCF and TBI file for the true positive variants pattern: "tp.vcf{.gz,.gz.tbi}" - baseline: type: file description: A tuple containing the VCF and TBI file for the baseline true positive variants pattern: "tp-baseline.vcf{.gz,.gz.tbi}" - fp: type: file description: A tuple containing the VCF and TBI file for the false positive variants pattern: "fp.vcf{.gz,.gz.tbi}" - fn: type: file description: A tuple containing the VCF and TBI file for the false negative variants pattern: "fn.vcf{.gz,.gz.tbi}" - roc: type: file description: TSV files containing ROC data for the evaluated variants pattern: "*.tsv.gz" - summary: type: file description: A TXT file containing the summary of the evaluation pattern: "summary.txt" - phasing: type: file description: A TXT file containing the data on the phasing pattern: "phasing.txt" authors: - "@nvnieuwk"