Workflow: exome alignment and somatic variant detection

Fetched 2023-01-04 00:00:33 GMT
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Inputs

ID Type Title Doc
vep_pick
reference File
tumor_bams File[]
tumor_name String (Optional)
normal_bams File[]
normal_name String (Optional)
synonyms_file File (Optional)
vep_cache_dir Directory
bait_intervals File
cle_vcf_filter Boolean
varscan_p_value Float (Optional)
target_intervals File 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.

tumor_readgroups String[]
normal_readgroups String[]
summary_intervals https://w3id.org/cwl/view/git/04d21c33a5f2950e86db285fa0a32a6659198d8a/definitions/types/labelled_file.yml#labelled_file[]
tumor_sample_name String
normal_sample_name String
per_base_intervals https://w3id.org/cwl/view/git/04d21c33a5f2950e86db285fa0a32a6659198d8a/definitions/types/labelled_file.yml#labelled_file[]
pindel_insert_size Integer
vep_ensembl_species String

ensembl species - Must be present in the cache directory. Examples: homo_sapiens or mus_musculus

vep_ensembl_version String

ensembl version - Must be present in the cache directory. Example: 95

vep_to_table_fields String[]
annotate_coding_only Boolean (Optional)
mutect_scatter_count Integer
per_target_intervals https://w3id.org/cwl/view/git/04d21c33a5f2950e86db285fa0a32a6659198d8a/definitions/types/labelled_file.yml#labelled_file[]
strelka_cpu_reserved Integer (Optional)
varscan_min_coverage Integer (Optional)
varscan_min_var_freq Float (Optional)
vep_ensembl_assembly String

genome assembly to use in vep. Examples: GRCh38 or GRCm38

varscan_strand_filter Integer (Optional)
qc_minimum_base_quality Integer (Optional)
target_interval_padding Integer 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.

varscan_max_normal_freq Float (Optional)
variants_to_table_fields String[]
qc_minimum_mapping_quality Integer (Optional)
picard_metric_accumulation_level String
variants_to_table_genotype_fields String[]

Steps

ID Runs Label Doc
detect_variants Detect Variants workflow
tumor_index_cram
../tools/index_cram.cwl (CommandLineTool)
samtools index cram
normal_index_cram
../tools/index_cram.cwl (CommandLineTool)
samtools index cram
tumor_bam_to_cram
../tools/bam_to_cram.cwl (CommandLineTool)
BAM to CRAM conversion
normal_bam_to_cram
../tools/bam_to_cram.cwl (CommandLineTool)
BAM to CRAM conversion
pad_target_intervals
../tools/interval_list_expand.cwl (CommandLineTool)
expand interval list regions by a given number of basepairs
tumor_alignment_and_qc exome alignment with qc, no bqsr, no verify_bam_id
normal_alignment_and_qc exome alignment with qc, no bqsr, no verify_bam_id

Outputs

ID Type Label Doc
final_tsv File
final_vcf File
tumor_cram File
normal_cram File
vep_summary File
tumor_flagstats File
normal_flagstats File
tumor_hs_metrics File
normal_hs_metrics File
final_filtered_vcf File
mutect_filtered_vcf File
pindel_filtered_vcf File
strelka_filtered_vcf File
varscan_filtered_vcf File
mutect_unfiltered_vcf File
pindel_unfiltered_vcf File
strelka_unfiltered_vcf File
varscan_unfiltered_vcf File
tumor_summary_hs_metrics File[]
normal_summary_hs_metrics File[]
tumor_insert_size_metrics File
tumor_per_base_hs_metrics File[]
normal_insert_size_metrics File
normal_per_base_hs_metrics File[]
tumor_per_target_hs_metrics File[]
tumor_snv_bam_readcount_tsv File
normal_per_target_hs_metrics File[]
normal_snv_bam_readcount_tsv File
tumor_indel_bam_readcount_tsv File
tumor_mark_duplicates_metrics File
normal_indel_bam_readcount_tsv File
normal_mark_duplicates_metrics File
tumor_alignment_summary_metrics File
tumor_per_base_coverage_metrics File[]
normal_alignment_summary_metrics File
normal_per_base_coverage_metrics File[]
tumor_per_target_coverage_metrics File[]
normal_per_target_coverage_metrics File[]
Permalink: https://w3id.org/cwl/view/git/04d21c33a5f2950e86db285fa0a32a6659198d8a/definitions/pipelines/somatic_exome_nonhuman.cwl