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pipelines_germline_exome_gvcf.cwl

Travis CI User edited this page Feb 9, 2021 · 11 revisions

Documentation for germline_exome_gvcf.cwl

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Overview

exome alignment and germline variant detection

Inputs

Name Label Description Type Secondary Files
reference ['string', 'File'] ['.fai', '^.dict', '.amb', '.ann', '.bwt', '.pac', '.sa']
sequence sequence: sequencing data and readgroup information sequence represents the sequencing data as either FASTQs or BAMs with accompanying readgroup information. Note that in the @RG field ID and SM are required. ../types/sequence_data.yml#sequence_data[]
trimming ['../types/trimming_options.yml#trimming_options', 'null']
bqsr_known_sites One or more databases of known polymorphic sites used to exclude regions around known polymorphisms from analysis. File[] ['.tbi']
bqsr_intervals string[]?
bait_intervals File
target_intervals File
per_base_intervals ../types/labelled_file.yml#labelled_file[]
per_target_intervals ../types/labelled_file.yml#labelled_file[]
summary_intervals ../types/labelled_file.yml#labelled_file[]
omni_vcf File ['.tbi']
picard_metric_accumulation_level string
emit_reference_confidence {'type': 'enum', 'symbols': ['NONE', 'BP_RESOLUTION', 'GVCF']}
gvcf_gq_bands string[]
intervals {'type': 'array', 'items': {'type': 'array', 'items': 'string'}}
ploidy int?
synonyms_file File?
qc_minimum_mapping_quality int?
qc_minimum_base_quality int?

Outputs

Name Label Description Type Secondary Files
cram File
mark_duplicates_metrics File
insert_size_metrics File
insert_size_histogram File
alignment_summary_metrics File
hs_metrics File
per_target_coverage_metrics File[]
per_target_hs_metrics File[]
per_base_coverage_metrics File[]
per_base_hs_metrics File[]
summary_hs_metrics File[]
flagstats File
verify_bam_id_metrics File
verify_bam_id_depth File
gvcf File[]

Steps

Name CWL Run
alignment_and_qc pipelines/alignment_exome.cwl
extract_freemix
generate_gvcfs subworkflows/gatk_haplotypecaller_iterator.cwl
bam_to_cram tools/bam_to_cram.cwl
index_cram tools/index_cram.cwl
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