Workflow: Detect Variants workflow

Fetched 2024-06-09 06:08:57 GMT
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Inputs

ID Type Title Doc
vep_pick
reference File
sample_bam File
sample_name String
vep_plugins String[]
min_coverage Integer (Optional)
min_var_freq Float (Optional)
roi_intervals File

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

scatter_count Integer (Optional)

scatters each supported variant detector (varscan, pindel, mutect) into this many parallel jobs.

synonyms_file File (Optional)
vep_cache_dir Directory
whitelist_vcf File

Whitelisted variants (VCF) and accompanying .tbi file.

cle_vcf_filter Boolean
known_variants File (Optional)

Previously discovered variants to be flagged in this pipelines's output vcf

varscan_p_value Float (Optional)
pindel_insert_size Integer
strelka_exome_mode Boolean (Optional)
matched_control_bam File
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)
filter_minimum_depth Integer
matched_control_name String
panel_of_normal_bams File[]
strelka_cpu_reserved Integer (Optional)
vep_ensembl_assembly String

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

varscan_strand_filter Integer (Optional)
filter_mapq0_threshold Float
varscan_max_normal_freq Float (Optional)
variants_to_table_fields String[]
filter_whitelist_variants Boolean

Determines whether variants found only via genotyping of whitelist sites will be filtered (as WHITELIST_ONLY) or passed through as variant calls

readcount_minimum_base_quality Integer (Optional)
readcount_minimum_mapping_quality Integer (Optional)
variants_to_table_genotype_fields String[]
filter_gnomADe_maximum_population_allele_frequency Float

Steps

ID Runs Label Doc
index
../tools/index_vcf.cwl (CommandLineTool)
vcf index
mutect mutect parallel workflow
pindel pindel parallel workflow
combine
../tools/combine_variants.cwl (CommandLineTool)
Combine variants from multiple vcfs
strelka strelka workflow
varscan Varscan Workflow
decompose
../tools/vt_decompose.cwl (CommandLineTool)
run vt decompose
whitelist Detect whitelisted variants
filter_vcf Apply filters to VCF file
combined_bgzip
../tools/bgzip.cwl (CommandLineTool)
bgzip VCF
combined_index
../tools/index_vcf.cwl (CommandLineTool)
vcf index
decompose_index
../tools/index_vcf.cwl (CommandLineTool)
vcf index
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)
add_filter_to_info
../tools/add_filter_to_info.cwl (CommandLineTool)
Add FILTER column info to INFO column
set_final_tsv_name
../tools/staged_rename.cwl (CommandLineTool)
Staged Renamer

Renames a file by staging and then `mv`ing it. A workaround for workflow engines that don't support rename.cwl. If running in cwltool, use the other one instead.

tumor_bam_readcount
../tools/bam_readcount.cwl (CommandLineTool)
run bam-readcount
normal_bam_readcount
../tools/bam_readcount.cwl (CommandLineTool)
run bam-readcount
add_comments_to_table
../tools/add_comments_to_table.cwl (CommandLineTool)
Add useful comments to table output
annotated_filter_bgzip
../tools/bgzip.cwl (CommandLineTool)
bgzip VCF
annotated_filter_index
../tools/index_vcf.cwl (CommandLineTool)
vcf index
add_vep_fields_to_table
../tools/add_vep_fields_to_table.cwl (CommandLineTool)
add VEP annotation to report
background_error_suppression SNV background error suppression using panel of normals
add_tumor_bam_readcount_to_vcf Add snv and indel bam-readcount files to a vcf
add_normal_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
vep_summary 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
whitelist_filtered_vcf File
tumor_snv_bam_readcount_tsv File
normal_snv_bam_readcount_tsv File
tumor_indel_bam_readcount_tsv File
normal_indel_bam_readcount_tsv File
Permalink: https://w3id.org/cwl/view/git/656d9ae18f164f983c5672bcf51037cd73309f4f/pipelines/snv_indel_post_processing.cwl