Workflow: exome alignment and germline variant detection

Fetched 2026-10-09 21:14:46 GMT
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Workflow as SVG
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Inputs

ID Type Title Doc
bams File[]
dbsnp File
mills File
omni_vcf File
intervals 8b208225bdc63d38fe72f11c745dfbd0[]
reference String
readgroups String[]
known_indels File
gvcf_gq_bands String[]
bait_intervals File
bqsr_intervals String[] (Optional)
target_intervals File
emit_reference_confidence String
picard_metric_accumulation_level String

Steps

ID Runs Label Doc
extract_freemix
germline_exome_workflow.cwl#extract_freemix/e5932e06-2c2d-4395-b69b-9e1665728a03 (ExpressionTool)
alignment_and_qc
exome_alignment.cwl (Workflow)
exome alignment with qc
haplotype_caller scatter GATK HaplotypeCaller over intervals

Outputs

ID Type Label Doc
cram File
gvcf File[]
flagstats File
hs_metrics File
insert_size_metrics File
verify_bam_id_depth File
verify_bam_id_metrics File
mark_duplicates_metrics File
alignment_summary_metrics File
per_base_coverage_metrics File (Optional)
per_target_coverage_metrics File (Optional)
Permalink: https://w3id.org/cwl/view/git/8f21f80a504c7fb834af331715a0661707d25537/germline_exome_workflow.cwl