#!/usr/bin/env cwl-runner cwlVersion: v1.0 class: Workflow label: "merge and annotate svs with population allele freq and vep" requirements: - class: SubworkflowFeatureRequirement inputs: vcfs: type: File[] max_distance_to_merge: type: int minimum_sv_calls: type: int same_type: type: boolean same_strand: type: boolean estimate_sv_distance: type: boolean minimum_sv_size: type: int cohort_name: type: string? sv_db: type: File vep_cache_dir: type: string vep_ensembl_assembly: type: string doc: "genome assembly to use in vep. Examples: GRCh38 or GRCm38" vep_ensembl_version: type: string doc: "ensembl version - Must be present in the cache directory. Example: 95" vep_ensembl_species: type: string doc: "ensembl species - Must be present in the cache directory. Examples: homo_sapiens or mus_musculus" coding_only: type: boolean? custom_gnomad_vcf: type: File? custom_clinvar_vcf: type: File? reference: type: string synonyms_file: type: File? vep_plugins: type: string[]? default: [] outputs: merged_annotated_vcf: type: File outputSource: sort_vcf/sorted_vcf vep_summary: type: File outputSource: annotate_variants/vep_summary steps: merge_vcfs: run: ../tools/survivor.cwl in: vcfs: vcfs max_distance_to_merge: max_distance_to_merge minimum_sv_calls: minimum_sv_calls same_type: same_type same_strand: same_strand estimate_sv_distance: estimate_sv_distance minimum_sv_size: minimum_sv_size cohort_name: cohort_name out: [merged_vcf] add_population_frequency: run: ../tools/add_sv_population_frequency.cwl in: vcf: merge_vcfs/merged_vcf sv_db: sv_db cohort_name: cohort_name out: [merged_annotated_vcf] annotate_variants: run: ../tools/vep.cwl in: vcf: add_population_frequency/merged_annotated_vcf cache_dir: vep_cache_dir ensembl_assembly: vep_ensembl_assembly ensembl_version: vep_ensembl_version ensembl_species: vep_ensembl_species synonyms_file: synonyms_file coding_only: coding_only reference: reference custom_gnomad_vcf: custom_gnomad_vcf custom_clinvar_vcf: custom_clinvar_vcf plugins: vep_plugins everything: default: false pick: default: "per_gene" out: [annotated_vcf, vep_summary] sort_vcf: run: ../tools/sort_vcf.cwl in: vcf: annotate_variants/annotated_vcf out: [sorted_vcf]