Workflow: wgs alignment and germline variant detection

Fetched 2023-01-11 06:53:59 GMT
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Inputs

ID Type Title Doc
ploidy Integer (Optional)
omni_vcf File
sequence https://w3id.org/cwl/view/git/8eb189a4a34dc8cd86380685f814c79a444a7601/definitions/types/sequence_data.yml#sequence_data[]
trimming https://w3id.org/cwl/view/git/8eb189a4a34dc8cd86380685f814c79a444a7601/definitions/types/trimming_options.yml#trimming_options (Optional)
intervals a925378418b4bf5d075af53c7ea30eec[]
reference File
qc_intervals File
gvcf_gq_bands String[]
synonyms_file File (Optional)
bqsr_intervals String[] (Optional)
bqsr_known_sites File[]

One or more databases of known polymorphic sites used to exclude regions around known polymorphisms from analysis.

summary_intervals https://w3id.org/cwl/view/git/8eb189a4a34dc8cd86380685f814c79a444a7601/definitions/types/labelled_file.yml#labelled_file[]
per_base_intervals https://w3id.org/cwl/view/git/8eb189a4a34dc8cd86380685f814c79a444a7601/definitions/types/labelled_file.yml#labelled_file[]
annotate_coding_only Boolean (Optional)
minimum_base_quality Integer (Optional)
per_target_intervals https://w3id.org/cwl/view/git/8eb189a4a34dc8cd86380685f814c79a444a7601/definitions/types/labelled_file.yml#labelled_file[]
minimum_mapping_quality Integer (Optional)
emit_reference_confidence
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
generate_gvcfs scatter GATK HaplotypeCaller over intervals
extract_freemix
germline_wgs_gvcf.cwl#extract_freemix/8e41b401-10b3-471e-a2f6-ef9a05b154bf (ExpressionTool)
alignment_and_qc
alignment_wgs.cwl (Workflow)
wgs alignment with qc

Outputs

ID Type Label Doc
cram File
gvcf File[]
flagstats 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/8eb189a4a34dc8cd86380685f814c79a444a7601/definitions/pipelines/germline_wgs_gvcf.cwl