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aliquot-maf-cwl's Introduction

aliquot-maf-cwl

CWL tools and workflows for generating and processing aliquot-MAF

Convert annotated VCF to an aliquot MAF

Workflow: workflows/vcf_to_aliquot_maf_wf.cwl

Inputs

Input Type Description
annotated_vcf_uuid uuid input vcf uuid
annotated_vcf_index_uuid uuid input vcf index uuid
bioclient_config file bioclient config file
biotype_priority_uuid uuid biotype priority json uuid
caller_id string variant caller id
case_uuid uuid case uuid
context_size int reference context size (5)
cosmic_vcf_uuid uuid cosmic vcf uuid
cosmic_vcf_index_uuid uuid cosmic vcf index uuid
custom_enst_uuid uuid custom transcript overloads file uuid
dbsnp_priority_db_uuid uuid dbSNP priority sqlite uuid
effect_priority_uuid uuid effect prioty json uuid
exac_freq_cutoff float non-tcga exac frequency filter cutoff (0.001)
experimental_strategy string experimental strategy
gdc_blacklist_uuid uuid blacklist uuid if doing blacklist filter
gdc_pon_vcf_uuid uuid panel of normals vcf uuid
gdc_pon_vcf_index_uuid uuid panel of normals vcf index uuid
hotspot_tsv_uuid uuid hotspot tsv uuid
job_uuid uuid uuid of the workflow job
maf_center string[] list of sequencing centers
min_n_depth int normal depth filtering cutoff (7)
non_tcga_exac_vcf_uuid uuid Non-TCGA ExAC vcf uuid
non_tcga_exac_vcf_index_uuid uuid Non-TCGA ExAC vcf index uuid
nonexonic_intervals_uuid uuid Exonic regions bed uuid
nonexonic_intervals_index_uuid uuid Exonic regions bed tabix index uuid
normal_aliquot_uuid uuid normal aliquot uuid
normal_bam_uuid uuid normal sample's bam uuid
normal_submitter_id string normal aliquot's submitted id
reference_fasta_index_uuid uuid main chromosome reference fai uuid
reference_fasta_uuid uuid main chromosome reference fasta uuid
sequencer string[] list of sequencers used
target_intervals_record indexed_file[] list of targeted sequencing indexed_file objects
tumor_aliquot_uuid uuid tumor aliquot uuid
tumor_bam_uuid uuid tumor aliquot's bam uuid
tumor_submitter_id string tumor aliquot's submitter id
upload_bucket string upload bucket uri

An indexed_file object id defined as:

{
  "main_file_uuid": "<UUID>",
  "index_file_uuid": "<UUID>"
}

Outputs

  • aliquot_maf_uuid - the UUID of the generated aliquot MAF file

Aggregate/merge aliquot MAF from different callers

Workflow: workflows/ensemble_aliquot_maf_wf.cwl

Inputs

Input Type Description
aliquot_maf_uuid_list optional_file_uuid[] input list of optional_file_uuid objects
bioclient_config file bioclient config file
experimental_strategy string experimental strategy
job_uuid uuid uuid of the workflow job
min_callers int minimum number of callers supporting the variant for masked merged maf file (2)
min_n_depth float minimal Normal depth cutoff after averaging (7)
upload_bucket string upload bucket uri

An optional_file_uuid object:

{
    "key": "<caller>",
    "uuid": "<maf_uuid>"
}

Outputs

  • aliquot_merged_raw_maf_uuid - the UUID of the raw merged MAF
  • aliquot_merged_masked_maf_uuid - the UUID of the masked merged MAF
  • aliquot_maf_metrics_uuid - the UUID of the metrics JSON file

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