Workflow: Tumor-Only Detect Variants workflow

Fetched 2023-01-04 18:37:25 GMT
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Inputs

ID Type Title Doc
bam File
docm_vcf File

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)

vep_pick
reference File
sample_name String
vep_plugins String[]
roi_intervals File roi_intervals: regions of interest in which variants will be called

roi_intervals is a list of regions (in interval_list format) within which to call somatic variants

synonyms_file File (Optional)
vep_cache_dir Directory
varscan_p_value Float (Optional)
varscan_min_reads Integer (Optional)
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
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)
vep_custom_annotations https://w3id.org/cwl/view/git/336f7d1af649f42543baa6be2594cd872919b5b5/definitions/types/vep_custom_annotation.yml#vep_custom_annotation[]

custom type, check types directory for input format

variants_to_table_fields String[]
readcount_minimum_base_quality Integer (Optional)
readcount_minimum_mapping_quality Integer (Optional)
variants_to_table_genotype_fields String[]
maximum_population_allele_frequency Float (Optional)

Steps

ID Runs Label Doc
docm Detect DoCM variants
index
../tools/index_vcf.cwl (CommandLineTool)
vcf index
varscan Varscan Workflow
af_filter
../tools/filter_vcf_custom_allele_freq.cwl (CommandLineTool)
Custom allele frequency filter
decompose
../tools/vt_decompose.cwl (CommandLineTool)
run vt decompose
hard_filter
../tools/select_variants.cwl (CommandLineTool)
SelectVariants (GATK 4.1.8.1)
bam_readcount
../tools/bam_readcount.cwl (CommandLineTool)
run bam-readcount
bgzip_filtered
../tools/bgzip.cwl (CommandLineTool)
bgzip VCF
index_filtered
../tools/index_vcf.cwl (CommandLineTool)
vcf index
combine_variants
../tools/germline_combine_variants.cwl (CommandLineTool)
CombineVariants (GATK 3.6)
annotate_variants
../tools/vep.cwl (CommandLineTool)
Ensembl Variant Effect Predictor
variants_to_table
../tools/variants_to_table.cwl (CommandLineTool)
SelectVariants (GATK 4.1.8.1)
coding_variant_filter
../tools/filter_vcf_coding_variant.cwl (CommandLineTool)
Coding Variant filter
add_vep_fields_to_table
../tools/add_vep_fields_to_table.cwl (CommandLineTool)
add VEP annotation to report
add_bam_readcount_to_vcf Add snv and indel bam-readcount files to a vcf

Outputs

ID Type Label Doc
final_tsv File
final_vcf File
varscan_vcf File
vep_summary File
annotated_vcf File
docm_gatk_vcf File
tumor_snv_bam_readcount_tsv File
tumor_indel_bam_readcount_tsv File
Permalink: https://w3id.org/cwl/view/git/336f7d1af649f42543baa6be2594cd872919b5b5/definitions/pipelines/tumor_only_detect_variants.cwl