Workflow: exome alignment and germline variant detection

Fetched 2023-01-10 13:16:36 GMT
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Inputs

ID Type Title Doc
bam File
ploidy Integer (Optional)
intervals 1dd260c900182c93f3c248b4a2f807f2[]
reference File
vep_plugins String[]
gvcf_gq_bands String[]
synonyms_file File (Optional)
vep_cache_dir Directory
final_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[] (Optional)
annotate_coding_only Boolean (Optional)
vep_ensembl_assembly String

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

contamination_fraction String (Optional)
vep_custom_annotations https://w3id.org/cwl/view/git/97572e3a088d79f6a4166385f79e79ea77b11470/definitions/types/vep_custom_annotation.yml#vep_custom_annotation[]

custom type, check types directory for input format

limit_variant_intervals File
variants_to_table_fields String[] (Optional)
emit_reference_confidence
variants_to_table_genotype_fields String[] (Optional)
filter_gnomAD_maximum_population_allele_frequency Float

Steps

ID Runs Label Doc
filter_vcf Apply filters to VCF file
merge_vcfs
../tools/picard_merge_vcfs.cwl (CommandLineTool)
Picard MergeVcfs
haplotype_caller scatter GATK HaplotypeCaller over intervals
annotate_variants
../tools/vep.cwl (CommandLineTool)
Ensembl Variant Effect Predictor
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.

bgzip_annotated_vcf
../tools/bgzip.cwl (CommandLineTool)
bgzip VCF
index_annotated_vcf
../tools/index_vcf.cwl (CommandLineTool)
vcf index
set_filtered_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.

final_variants_to_table
../tools/variants_to_table.cwl (CommandLineTool)
SelectVariants (GATK 4.1.8.1)
filtered_variants_to_table
../tools/variants_to_table.cwl (CommandLineTool)
SelectVariants (GATK 4.1.8.1)
final_add_vep_fields_to_table
../tools/add_vep_fields_to_table.cwl (CommandLineTool)
add VEP annotation to report
filtered_add_vep_fields_to_table
../tools/add_vep_fields_to_table.cwl (CommandLineTool)
add VEP annotation to report

Outputs

ID Type Label Doc
raw_vcf File
final_tsv File
final_vcf File
vep_summary File
filtered_tsv File
filtered_vcf File
Permalink: https://w3id.org/cwl/view/git/97572e3a088d79f6a4166385f79e79ea77b11470/definitions/subworkflows/germline_detect_variants.cwl