pipelines_tumor_only_wgs.cwl - genome/analysis-workflows GitHub Wiki

Documentation for tumor_only_wgs.cwl

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Overview

wgs alignment and tumor-only variant detection

Inputs

Name Label Description Type Secondary Files
reference ['string', 'File'] ['.fai', '^.dict', '.amb', '.ann', '.bwt', '.pac', '.sa']
sequence sequence: sequencing data and readgroup information sequence represents the sequencing data as either FASTQs or BAMs with accompanying readgroup information. Note that in the @RG field ID and SM are required. ../types/sequence_data.yml#sequence_data[]
trimming ['../types/trimming_options.yml#trimming_options', 'null']
bqsr_known_sites One or more databases of known polymorphic sites used to exclude regions around known polymorphisms from analysis. File[] ['.tbi']
omni_vcf File ['.tbi']
bqsr_intervals bqsr_intervals: Array of strings specifying regions for base quality score recalibration bqsr_intervals provides an array of genomic intervals for which to apply GATK base quality score recalibrations. Typically intervals are given for the entire chromosome (chr1, chr2, etc.), these names should match the format in the reference file. string[]
target_intervals target_intervals: interval_list file of targets used in the sequencing experiment target_intervals is an interval_list corresponding to the targets for the reagent. In the case of WGS this generally should contain intervals that span the entire genome. File
per_base_intervals per_base_intervals: additional intervals over which to summarize coverage/QC at a per-base resolution per_base_intervals is a list of regions (in interval_list format) over which to summarize coverage/QC at a per-base resolution. ../types/labelled_file.yml#labelled_file[]
per_target_intervals per_target_intervals: additional intervals over which to summarize coverage/QC at a per-target resolution per_target_intervals list of regions (in interval_list format) over which to summarize coverage/QC at a per-target resolution. ../types/labelled_file.yml#labelled_file[]
summary_intervals ../types/labelled_file.yml#labelled_file[]
picard_metric_accumulation_level string
roi_intervals File
vep_cache_dir ['string', 'Directory']
vep_ensembl_assembly genome assembly to use in vep. Examples: GRCh38 or GRCm38 string
vep_ensembl_version ensembl version - Must be present in the cache directory. Example: 95 string
vep_ensembl_species ensembl species - Must be present in the cache directory. Examples: homo_sapiens or mus_musculus string
synonyms_file File?
vep_pick ['null', {'type': 'enum', 'symbols': ['pick', 'flag_pick', 'pick_allele', 'per_gene', 'pick_allele_gene', 'flag_pick_allele', 'flag_pick_allele_gene']}]
sample_name string
docm_vcf Common mutations in cancer that will be genotyped and passed through into the merged VCF if they have even low-level evidence of a mutation (by default, marked with filter DOCM_ONLY) File
vep_custom_annotations custom type, check types directory for input format ../types/vep_custom_annotation.yml#vep_custom_annotation[]
readcount_minimum_mapping_quality int?
readcount_minimum_base_quality int?
variants_to_table_fields string[]
variants_to_table_genotype_fields string[]
vep_to_table_fields string[]
varscan_min_coverage int?
varscan_min_var_freq float?
varscan_min_reads int?
maximum_population_allele_frequency float?
qc_minimum_mapping_quality int?
qc_minimum_base_quality int?

Outputs

Name Label Description Type Secondary Files
cram File
mark_duplicates_metrics File
insert_size_metrics File
insert_size_histogram File
alignment_summary_metrics File
gc_bias_metrics File
gc_bias_metrics_chart File
gc_bias_metrics_summary File
wgs_metrics File
flagstats File
verify_bam_id_metrics File
verify_bam_id_depth File
varscan_vcf File ['.tbi']
docm_gatk_vcf File
annotated_vcf File ['.tbi']
final_vcf File ['.tbi']
final_tsv File
vep_summary File
tumor_snv_bam_readcount_tsv File
tumor_indel_bam_readcount_tsv File
per_base_coverage_metrics File[]
per_base_hs_metrics File[]
per_target_coverage_metrics File[]
per_target_hs_metrics File[]
summary_hs_metrics File[]

Steps

Name CWL Run
alignment_and_qc pipelines/alignment_wgs.cwl
detect_variants pipelines/tumor_only_detect_variants.cwl
bam_to_cram tools/bam_to_cram.cwl
index_cram tools/index_cram.cwl