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pipelines_somatic_exome_nonhuman.cwl

APipe Tester edited this page Jul 14, 2021 · 11 revisions

Documentation for somatic_exome_nonhuman.cwl

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Overview

exome alignment and somatic variant detection

Inputs

Name Label Description Type Secondary Files
reference ['string', 'File'] ['.fai', '^.dict', '.amb', '.ann', '.bwt', '.pac', '.sa']
tumor_sequence tumor_sequence: MT sequencing data and readgroup information tumor_sequence represents the sequencing data for the MT sample 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[]
tumor_name tumor_name: String specifying the name of the MT sample tumor_name provides a string for what the MT sample will be referred to in the various outputs, for example the VCF files. string?
normal_sequence normal_sequence: WT sequencing data and readgroup information normal_sequence represents the sequencing data for the WT sample 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[]
normal_name normal_name: String specifying the name of the WT sample normal_name provides a string for what the WT sample will be referred to in the various outputs, for example the VCF files. string?
trimming ['../types/trimming_options.yml#trimming_options', 'null']
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[]
picard_metric_accumulation_level string
qc_minimum_mapping_quality int?
qc_minimum_base_quality int?
strelka_cpu_reserved int?
scatter_count scatters each supported variant detector (varscan, pindel, mutect) into this many parallel jobs int
varscan_strand_filter int?
varscan_min_coverage int?
varscan_min_var_freq float?
varscan_p_value float?
varscan_max_normal_freq float?
pindel_insert_size int
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']}]
cle_vcf_filter boolean
filter_somatic_llr_threshold Sets the stringency (log-likelihood ratio) used to filter out non-somatic variants. Typical values are 10=high stringency, 5=normal, 3=low stringency. Low stringency may be desirable when read depths are low (as in WGS) or when tumor samples are impure. float
filter_somatic_llr_tumor_purity Sets the purity of the tumor used in the somatic llr filter, used to remove non-somatic variants. Probably only needs to be adjusted for low-purity (< 50%). Range is 0 to 1 float
filter_somatic_llr_normal_contamination_rate Sets the fraction of tumor present in the normal sample (range 0 to 1), used in the somatic llr filter. Useful for heavily contaminated adjacent normals. Range is 0 to 1 float
variants_to_table_fields string[]
variants_to_table_genotype_fields string[]
vep_to_table_fields string[]
tumor_sample_name string
normal_sample_name string
cnvkit_target_average_size approximate size of split target bins for CNVkit; if not set a suitable window size will be set by CNVkit automatically int?

Outputs

Name Label Description Type Secondary Files
tumor_cram File
tumor_mark_duplicates_metrics File
tumor_insert_size_metrics File
tumor_alignment_summary_metrics File
tumor_hs_metrics File
tumor_per_target_coverage_metrics File[]
tumor_per_target_hs_metrics File[]
tumor_per_base_coverage_metrics File[]
tumor_per_base_hs_metrics File[]
tumor_summary_hs_metrics File[]
tumor_flagstats File
normal_cram File
normal_mark_duplicates_metrics File
normal_insert_size_metrics File
normal_alignment_summary_metrics File
normal_hs_metrics File
normal_per_target_coverage_metrics File[]
normal_per_target_hs_metrics File[]
normal_per_base_coverage_metrics File[]
normal_per_base_hs_metrics File[]
normal_summary_hs_metrics File[]
normal_flagstats File
mutect_unfiltered_vcf File ['.tbi']
mutect_filtered_vcf File ['.tbi']
strelka_unfiltered_vcf File ['.tbi']
strelka_filtered_vcf File ['.tbi']
varscan_unfiltered_vcf File ['.tbi']
varscan_filtered_vcf File ['.tbi']
pindel_unfiltered_vcf File ['.tbi']
pindel_filtered_vcf File ['.tbi']
final_vcf File ['.tbi']
final_filtered_vcf File ['.tbi']
final_tsv File
vep_summary File
tumor_snv_bam_readcount_tsv File
tumor_indel_bam_readcount_tsv File
normal_snv_bam_readcount_tsv File
normal_indel_bam_readcount_tsv File

Steps

Name CWL Run
tumor_alignment_and_qc pipelines/alignment_exome_nonhuman.cwl
normal_alignment_and_qc pipelines/alignment_exome_nonhuman.cwl
pad_target_intervals tools/interval_list_expand.cwl
detect_variants pipelines/detect_variants_nonhuman.cwl
cnvkit tools/cnvkit_batch.cwl
tumor_bam_to_cram tools/bam_to_cram.cwl
tumor_index_cram tools/index_cram.cwl
normal_bam_to_cram tools/bam_to_cram.cwl
normal_index_cram tools/index_cram.cwl
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