Workflow: exome alignment and germline variant detection

Fetched 2023-01-05 02:40:47 GMT
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Inputs

ID Type Title Doc
bams File[]
mills File
omni_vcf File
dbsnp_vcf File
intervals 24a5d8b81cf6ae4ceee1eec8f0af2d0e[]
reference String
readgroups String[]
known_indels File
vep_assembly String

Used to explicitly define which assembly version to use; required when there are two or more in the same directory

gvcf_gq_bands String[]
synonyms_file File (Optional)
vep_cache_dir String
bait_intervals File
bqsr_intervals String[] (Optional)
target_intervals File
custom_gnomad_vcf File (Optional)
summary_intervals https://w3id.org/cwl/view/git/1249b5d4e23d57ca5e3b8ad6d8e5f10ddb019f68/definitions/types/labelled_file.yml#labelled_file[]
custom_clinvar_vcf File (Optional)
per_base_intervals https://w3id.org/cwl/view/git/1249b5d4e23d57ca5e3b8ad6d8e5f10ddb019f68/definitions/types/labelled_file.yml#labelled_file[]
annotate_coding_only Boolean (Optional)
per_target_intervals https://w3id.org/cwl/view/git/1249b5d4e23d57ca5e3b8ad6d8e5f10ddb019f68/definitions/types/labelled_file.yml#labelled_file[]
qc_minimum_base_quality Integer (Optional)
emit_reference_confidence String
qc_minimum_mapping_quality Integer (Optional)
picard_metric_accumulation_level String

Steps

ID Runs Label Doc
index_cram
../tools/index_cram.cwl (CommandLineTool)
samtools index cram
bam_to_cram
../tools/bam_to_cram.cwl (CommandLineTool)
BAM to CRAM conversion
detect_variants exome alignment and germline variant detection
extract_freemix
germline_exome.cwl#extract_freemix/d06138a5-5e34-4835-9b5c-f84d8aa714b1 (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
summary_hs_metrics File[]
insert_size_metrics File
per_base_hs_metrics File[]
verify_bam_id_depth File
insert_size_histogram File
per_target_hs_metrics File[]
verify_bam_id_metrics 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/1249b5d4e23d57ca5e3b8ad6d8e5f10ddb019f68/definitions/pipelines/germline_exome.cwl