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pipelines_tumor_only_exome.cwl

Travis CI User edited this page Feb 9, 2021 · 24 revisions

Documentation for tumor_only_exome.cwl

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Overview

exome 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']
bqsr_intervals string[]?
bait_intervals File
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 capture reagent. Bed files with this information can be converted to interval_lists with Picard BedToIntervalList. In general for a WES exome reagent bait_intervals and target_intervals are the same. File
target_interval_padding target_interval_padding: number of bp flanking each target region in which to allow variant calls The effective coverage of capture products generally extends out beyond the actual regions targeted. This parameter allows variants to be called in these wingspan regions, extending this many base pairs from each side of the target regions. int
per_base_intervals ../types/labelled_file.yml#labelled_file[]
per_target_intervals ../types/labelled_file.yml#labelled_file[]
summary_intervals ../types/labelled_file.yml#labelled_file[]
omni_vcf File ['.tbi']
picard_metric_accumulation_level string
varscan_strand_filter int?
varscan_min_coverage int?
varscan_min_var_freq float?
varscan_p_value float?
varscan_min_reads int?
maximum_population_allele_frequency float?
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?
annotate_coding_only boolean?
vep_pick ['null', {'type': 'enum', 'symbols': ['pick', 'flag_pick', 'pick_allele', 'per_gene', 'pick_allele_gene', 'flag_pick_allele', 'flag_pick_allele_gene']}]
variants_to_table_fields string[]?
variants_to_table_genotype_fields string[]?
vep_to_table_fields string[]?
sample_name string
docm_vcf File ['.tbi']
vep_custom_annotations custom type, check types directory for input format ../types/vep_custom_annotation.yml#vep_custom_annotation[]
qc_minimum_mapping_quality int?
qc_minimum_base_quality int?
readcount_minimum_mapping_quality int?
readcount_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
hs_metrics File
per_target_coverage_metrics File[]
per_target_hs_metrics File[]
per_base_coverage_metrics File[]
per_base_hs_metrics File[]
summary_hs_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

Steps

Name CWL Run
alignment_and_qc pipelines/alignment_exome.cwl
pad_target_intervals tools/interval_list_expand.cwl
detect_variants pipelines/tumor_only_detect_variants.cwl
bam_to_cram tools/bam_to_cram.cwl
index_cram tools/index_cram.cwl
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