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subworkflows_joint_genotype.cwl

Travis CI User edited this page Feb 24, 2021 · 5 revisions

Documentation for joint_genotype.cwl

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Overview

joint genotyping for trios or small cohorts

Inputs

Name Label Description Type Secondary Files
reference ['string', 'File'] ['.fai', '^.dict']
gvcfs File[]
intervals intervals used to parallelize genotyping. Example: chr1],[chr2],[chr3],[chr4,chr5 {'type': 'array', 'items': {'type': 'array', 'items': 'string'}}
vep_cache_dir ['string', 'Directory']
vep_ensembl_assembly genome assembly to use in vep. Examples: GRCh38 or GRCm38 string
vep_ensembl_version ensembl version - Must be present in the cache directory. Example: 95 string
vep_ensembl_species ensembl species - Must be present in the cache directory. Examples: homo_sapiens or mus_musculus string
vep_plugins string[]
synonyms_file File?
annotate_coding_only boolean?
vep_custom_annotations custom type, check types directory for input format ../types/vep_custom_annotation.yml#vep_custom_annotation[]
roi_intervals region of interest interval list file, used to limit called variants in final filtered output files File
variants_to_table_fields string[]?
variants_to_table_genotype_fields string[]?
vep_to_table_fields string[]?
final_tsv_prefix string?
filter_gnomAD_maximum_population_allele_frequency float

Outputs

Name Label Description Type Secondary Files
raw_vcf File ['.tbi']
final_vcf File ['.tbi']
filtered_vcf File ['.tbi']
vep_summary File
final_tsv File
filtered_tsv File

Steps

Name CWL Run
combine_gvcfs tools/combine_gvcfs.cwl
genotype_gvcf tools/gatk_genotypegvcfs.cwl
merge_vcfs tools/picard_merge_vcfs.cwl
annotate_variants tools/vep.cwl
bgzip_index_annotated_vcf subworkflows/bgzip_and_index.cwl
filter_vcf subworkflows/germline_filter_vcf.cwl
filtered_variants_to_table tools/variants_to_table.cwl
filtered_add_vep_fields_to_table tools/add_vep_fields_to_table.cwl
set_filtered_tsv_name tools/staged_rename.cwl
final_variants_to_table tools/variants_to_table.cwl
final_add_vep_fields_to_table tools/add_vep_fields_to_table.cwl
set_final_tsv_name tools/staged_rename.cwl
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