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" - done: type: file description: A file containing the message on succesful completion pattern: "done" - progress: type: file description: A file containing the simplified logging of the process pattern: "progress" - vcfeval_log: type: file description: A file containing the extended logging of the process pattern: "*.log" - false_negatives_vcf: type: file description: A VCF file containing the false negative variants pattern: "fn.vcf.gz" - false_negatives_index: type: file description: The index file for the false negatives' VCF file pattern: "fn.vcf.gz.tbi" - false_positive_vcf: type: file description: A VCF file containing the false positive variants pattern: "fp.vcf.gz" - false_positives_index: type: file description: The index file for the false positives' VCF file pattern: "fp.vcf.gz.tbi" - true_positive_vcf: type: file description: A VCF file containing the true positive variants pattern: "tp.vcf.gz" - true_positives_index: type: file description: The index file for the true positives' VCF file pattern: "tp.vcf.gz.tbi" - true_positive_baseline_vcf: type: file description: A VCF file containing the true positive baseline variants pattern: "tp-baseline.vcf.gz" - true_positives_baseline_index: type: file description: The index file for the baseline true positives' VCF file pattern: "tp-baseline.vcf.gz.tbi" - non_snp_roc: type: file description: A TSV file containing the ROC data for the non-SNP variants pattern: "non_snp_roc.tsv.gz" - snp_roc: type: file description: A TSV file containing the ROC data for the SNP variants pattern: "snp_roc.tsv.gz" - weighted_roc: type: file description: A TSV file containing the weighted ROC data pattern: "weighted_roc.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"