Workflow: Replace legacy AML Trio Assay

Fetched 2023-01-04 18:43:38 GMT
children parents
Workflow as SVG
  • Selected
  • Default Values
  • Nested Workflows
  • Tools
  • Inputs/Outputs

Inputs

ID Type Title Doc
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)

omni_vcf File
vep_pick
intervals 8d1c1937cf9fe2142cbd4887c9612e9f[]
reference String
tumor_name String (Optional)
normal_name String (Optional)
somalier_vcf File
followup_name String (Optional)
gvcf_gq_bands String[]
interval_list File
scatter_count Integer

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

synonyms_file File (Optional)
vep_cache_dir Directory
bait_intervals File
bqsr_intervals String[]
cle_vcf_filter Boolean
tumor_sequence https://w3id.org/cwl/view/git/43c790e2ee6a0f3f42e40fb4d9a9005eb8de747a/definitions/types/sequence_data.yml#sequence_data[] 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.

disclaimer_text String (Optional)
normal_sequence https://w3id.org/cwl/view/git/43c790e2ee6a0f3f42e40fb4d9a9005eb8de747a/definitions/types/sequence_data.yml#sequence_data[] 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.

varscan_p_value Float (Optional)
bqsr_known_sites File[]

One or more databases of known polymorphic sites used to exclude regions around known polymorphisms from analysis.

target_intervals File
followup_sequence https://w3id.org/cwl/view/git/43c790e2ee6a0f3f42e40fb4d9a9005eb8de747a/definitions/types/sequence_data.yml#sequence_data[]
summary_intervals https://w3id.org/cwl/view/git/43c790e2ee6a0f3f42e40fb4d9a9005eb8de747a/definitions/types/labelled_file.yml#labelled_file[]
tumor_sample_name String
disclaimer_version String
normal_sample_name String
per_base_intervals https://w3id.org/cwl/view/git/43c790e2ee6a0f3f42e40fb4d9a9005eb8de747a/definitions/types/labelled_file.yml#labelled_file[]
pindel_insert_size Integer
pindel_region_file File
germline_tsv_prefix String (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 (Optional)
filter_docm_variants Boolean (Optional)

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

filter_minimum_depth Integer (Optional)
germline_coding_only Boolean (Optional)
per_target_intervals https://w3id.org/cwl/view/git/43c790e2ee6a0f3f42e40fb4d9a9005eb8de747a/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)
vep_custom_annotations https://w3id.org/cwl/view/git/43c790e2ee6a0f3f42e40fb4d9a9005eb8de747a/definitions/types/vep_custom_annotation.yml#vep_custom_annotation[]

custom type, check types directory for input format

qc_minimum_base_quality Integer (Optional)
varscan_max_normal_freq Float (Optional)
variants_to_table_fields String[]
emit_reference_confidence
qc_minimum_mapping_quality Integer (Optional)
variant_reporting_intervals File
germline_vep_to_table_fields String[]
picard_metric_accumulation_level String
germline_variants_to_table_fields String[]
variants_to_table_genotype_fields String[]
germline_variants_to_table_genotype_fields String[]

Steps

ID Runs Label Doc
concordance
../tools/concordance.cwl (CommandLineTool)
Concordance checking between Tumor and Normal BAM
full_report
../tools/cle_aml_trio_report_full_variants.cwl (CommandLineTool)
cle aml_trio full variants report
pindel_region Run pindel on provided region
coverage_report
../tools/cle_aml_trio_report_coverage_stat.cwl (CommandLineTool)
cle aml_trio hs_metrics coverage_stat report
extract_freemix
aml_trio_cle.cwl#extract_freemix/d8b54954-c51d-4742-860e-735ee8de64f2 (ExpressionTool)
alignment_report
../tools/cle_aml_trio_report_alignment_stat.cwl (CommandLineTool)
cle aml_trio alignment_stat report
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
followup_index_cram
../tools/index_cram.cwl (CommandLineTool)
samtools index cram
followup_bam_to_cram
../tools/bam_to_cram.cwl (CommandLineTool)
BAM to CRAM conversion
tumor_detect_variants
detect_variants.cwl (Workflow)
Detect Variants workflow
followup_bam_readcount
../tools/bam_readcount.cwl (CommandLineTool)
run bam-readcount
tumor_alignment_and_qc
alignment_exome.cwl (Workflow)
exome alignment with qc
normal_alignment_and_qc
alignment_exome.cwl (Workflow)
exome alignment with qc
germline_detect_variants exome alignment and germline variant detection
followup_alignment_and_qc
alignment_exome.cwl (Workflow)
exome alignment with qc
annotated_filter_vcf_index
../tools/index_vcf.cwl (CommandLineTool)
vcf index
add_disclaimer_to_tumor_final_tsv
../tools/add_string_at_line.cwl (CommandLineTool)
Insert an arbitrary string at a specific line of a file
add_disclaimer_to_germline_final_tsv
../tools/add_string_at_line.cwl (CommandLineTool)
Insert an arbitrary string at a specific line of a file
add_disclaimer_to_full_variant_report
../tools/add_string_at_line.cwl (CommandLineTool)
Insert an arbitrary string at a specific line of a file
add_disclaimer_version_to_tumor_final_tsv
../tools/add_string_at_line.cwl (CommandLineTool)
Insert an arbitrary string at a specific line of a file
add_disclaimer_to_tumor_final_filtered_vcf
../tools/add_string_at_line_bgzipped.cwl (CommandLineTool)
Insert an arbitrary string at a specific line of a gzipped file
add_disclaimer_version_to_germline_final_tsv
../tools/add_string_at_line.cwl (CommandLineTool)
Insert an arbitrary string at a specific line of a file
add_disclaimer_version_to_full_variant_report
../tools/add_string_at_line.cwl (CommandLineTool)
Insert an arbitrary string at a specific line of a file
add_disclaimer_version_to_tumor_final_filtered_vcf
../tools/add_string_at_line_bgzipped.cwl (CommandLineTool)
Insert an arbitrary string at a specific line of a gzipped file

Outputs

ID Type Label Doc
tumor_cram File
normal_cram File
followup_cram File
tumor_final_tsv File
tumor_final_vcf File
tumor_flagstats File
normal_flagstats File
tumor_hs_metrics File
docm_filtered_vcf File
normal_hs_metrics File
pindel_region_vcf File
tumor_vep_summary File
followup_flagstats File
germline_final_tsv File
germline_final_vcf File
followup_hs_metrics File
full_variant_report File
mutect_filtered_vcf File
pindel_filtered_vcf File
coverage_stat_report File
strelka_filtered_vcf File
varscan_filtered_vcf File
alignment_stat_report File
germline_filtered_tsv File
germline_filtered_vcf File
mutect_unfiltered_vcf File
pindel_unfiltered_vcf File
strelka_unfiltered_vcf File
varscan_unfiltered_vcf File
tumor_final_filtered_vcf File
tumor_summary_hs_metrics File[]
normal_summary_hs_metrics File[]
tumor_insert_size_metrics File
tumor_verify_bam_id_depth File
normal_insert_size_metrics File
normal_verify_bam_id_depth File
followup_summary_hs_metrics File[]
tumor_snv_bam_readcount_tsv File
tumor_verify_bam_id_metrics File
followup_insert_size_metrics File
followup_verify_bam_id_depth File
normal_snv_bam_readcount_tsv File
normal_verify_bam_id_metrics File
somalier_concordance_metrics File
tumor_indel_bam_readcount_tsv File
tumor_mark_duplicates_metrics File
followup_snv_bam_readcount_tsv File
followup_verify_bam_id_metrics File
normal_indel_bam_readcount_tsv File
normal_mark_duplicates_metrics File
somalier_concordance_statistics File
tumor_alignment_summary_metrics File
followup_indel_bam_readcount_tsv File
followup_mark_duplicates_metrics File
normal_alignment_summary_metrics File
followup_alignment_summary_metrics File
Permalink: https://w3id.org/cwl/view/git/43c790e2ee6a0f3f42e40fb4d9a9005eb8de747a/definitions/pipelines/aml_trio_cle.cwl