Workflow: exome alignment and germline variant detection

Fetched 2024-05-10 16:37:14 GMT
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Inputs

ID Type Title Doc
bams File[]
mills File
omni_vcf File
dbsnp_vcf File
intervals 73dd26bf3dfcbd96a242950229b0b0e7[]
reference String
readgroups String[]
known_indels File
gvcf_gq_bands String[]
synonyms_file File (Optional)
vep_cache_dir String (Optional)
bait_intervals File
bqsr_intervals String[] (Optional)
hgvs_annotation Boolean (Optional)
target_intervals File
custom_gnomad_vcf File (Optional)
per_base_intervals File
annotate_coding_only Boolean (Optional)
per_target_intervals File
per_base_bait_intervals File
qc_minimum_base_quality Integer (Optional)
emit_reference_confidence String
per_target_bait_intervals File
qc_minimum_mapping_quality Integer (Optional)
picard_metric_accumulation_level String

Steps

ID Runs Label Doc
detect_variants exome alignment and germline variant detection
extract_freemix
germline_exome_workflow.cwl#extract_freemix/76a74fe6-d89d-4903-876b-91327651b883 (ExpressionTool)
alignment_and_qc
exome_alignment.cwl (Workflow)
exome alignment with qc

Outputs

ID Type Label Doc
cram File
gvcf File[]
final_vcf File
flagstats File
coding_vcf File
hs_metrics File
limited_vcf File
vep_summary File
insert_size_metrics File
per_base_hs_metrics File (Optional)
verify_bam_id_depth File
insert_size_histogram File
per_target_hs_metrics File (Optional)
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/d1ee6a2a323cee7e4af00c7e0b926c2192038e1d/germline_exome_workflow.cwl