Workflow: wgs alignment and germline variant detection

Fetched 2023-01-12 09:34:56 GMT
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Inputs

ID Type Title Doc
bams File[]
mills File
omni_vcf File
dbsnp_vcf File
intervals 8e26a03c5d5850c6328113a0ad23d987[]
reference String
readgroups String[]
coding_only Boolean (Optional)
known_indels File
qc_intervals File
gvcf_gq_bands String[]
synonyms_file File (Optional)
vep_cache_dir String (Optional)
bqsr_intervals String[] (Optional)
hgvs_annotation Boolean (Optional)
custom_gnomad_vcf File (Optional)
summary_intervals https://w3id.org/cwl/view/git/ddb49a0951d9ad537269d7db3fe8f904495a8bf4/definitions/types/labelled_file.yml#labelled_file[]
custom_clinvar_vcf File (Optional)
per_base_intervals https://w3id.org/cwl/view/git/ddb49a0951d9ad537269d7db3fe8f904495a8bf4/definitions/types/labelled_file.yml#labelled_file[]
minimum_base_quality Integer (Optional)
per_target_intervals https://w3id.org/cwl/view/git/ddb49a0951d9ad537269d7db3fe8f904495a8bf4/definitions/types/labelled_file.yml#labelled_file[]
minimum_mapping_quality Integer (Optional)
emit_reference_confidence String
variant_reporting_intervals File
picard_metric_accumulation_level String

Steps

ID Runs Label Doc
detect_variants exome alignment and germline variant detection
extract_freemix
germline_wgs.cwl#extract_freemix/1e9e47d9-9672-489a-88e5-a3edd9051739 (ExpressionTool)
alignment_and_qc
wgs_alignment.cwl (Workflow)
wgs alignment with qc

Outputs

ID Type Label Doc
cram File
gvcf File[]
final_vcf File
flagstats File
coding_vcf File
limited_vcf File
vep_summary File
wgs_metrics File
gc_bias_metrics File
summary_hs_metrics File[]
insert_size_metrics File
per_base_hs_metrics File[]
verify_bam_id_depth File
gc_bias_metrics_chart File
insert_size_histogram File
per_target_hs_metrics File[]
verify_bam_id_metrics File
gc_bias_metrics_summary File
mark_duplicates_metrics File
alignment_summary_metrics File
per_base_coverage_metrics File[]
per_target_coverage_metrics File[]
Permalink: https://w3id.org/cwl/view/git/ddb49a0951d9ad537269d7db3fe8f904495a8bf4/definitions/pipelines/germline_wgs.cwl