Workflow: wgs alignment and tumor-only variant detection

Fetched 2023-01-10 10:09:54 GMT
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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
sequence https://w3id.org/cwl/view/git/0b6e8fd8ead7644cf5398395b76af5cf4011686f/definitions/types/sequence_data.yml#sequence_data[]
trimming https://w3id.org/cwl/view/git/0b6e8fd8ead7644cf5398395b76af5cf4011686f/definitions/types/trimming_options.yml#trimming_options (Optional)
vep_pick
reference File
sample_name String
roi_intervals File
synonyms_file File (Optional)
vep_cache_dir Directory
bqsr_intervals String[] bqsr_intervals: Array of strings specifying regions for base quality score recalibration

bqsr_intervals provides an array of genomic intervals for which to apply GATK base quality score recalibrations. Typically intervals are given for the entire chromosome (i.e. chr1, chr2, etc.), these names should match the format in the reference file.

bqsr_known_sites File[]

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

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 reagent. In the case of WGS this generally should contain intervals that span the entire genome.

summary_intervals https://w3id.org/cwl/view/git/0b6e8fd8ead7644cf5398395b76af5cf4011686f/definitions/types/labelled_file.yml#labelled_file[]
varscan_min_reads Integer (Optional)
per_base_intervals https://w3id.org/cwl/view/git/0b6e8fd8ead7644cf5398395b76af5cf4011686f/definitions/types/labelled_file.yml#labelled_file[] per_base_intervals: additional intervals over which to summarize coverage/QC at a per-base resolution

per_base_intervals is a list of regions (in interval_list format) over which to summarize coverage/QC at a per-base resolution.

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[]
per_target_intervals https://w3id.org/cwl/view/git/0b6e8fd8ead7644cf5398395b76af5cf4011686f/definitions/types/labelled_file.yml#labelled_file[] per_target_intervals: additional intervals over which to summarize coverage/QC at a per-target resolution

per_target_intervals list of regions (in interval_list format) over which to summarize coverage/QC at a per-target resolution.

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

vep_custom_annotations https://w3id.org/cwl/view/git/0b6e8fd8ead7644cf5398395b76af5cf4011686f/definitions/types/vep_custom_annotation.yml#vep_custom_annotation[]

custom type, check types directory for input format

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

Steps

ID Runs Label Doc
index_cram
../tools/index_cram.cwl (CommandLineTool)
samtools index cram
bam_to_cram
../tools/bam_to_cram.cwl (CommandLineTool)
BAM to CRAM conversion
detect_variants Tumor-Only Detect Variants workflow
alignment_and_qc
alignment_wgs.cwl (Workflow)
wgs alignment with qc

Outputs

ID Type Label Doc
cram File
final_tsv File
final_vcf File
flagstats File
varscan_vcf File
vep_summary File
wgs_metrics File
annotated_vcf File
docm_gatk_vcf File
gc_bias_metrics File
summary_hs_metrics File[]
insert_size_metrics File
per_base_hs_metrics File[]
verify_bam_id_depth File
gc_bias_metrics_chart File
insert_size_histogram File
per_target_hs_metrics File[]
verify_bam_id_metrics File
gc_bias_metrics_summary File
mark_duplicates_metrics File
alignment_summary_metrics File
per_base_coverage_metrics File[]
per_target_coverage_metrics File[]
tumor_snv_bam_readcount_tsv File
tumor_indel_bam_readcount_tsv File
Permalink: https://w3id.org/cwl/view/git/0b6e8fd8ead7644cf5398395b76af5cf4011686f/definitions/pipelines/tumor_only_wgs.cwl