Workflow: exomeseq-gatk4-02-variantdiscovery.cwl

Fetched 2024-05-03 11:31:51 GMT
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Inputs

ID Type Title Doc
name String
intervals File[] (Optional)
study_type https://w3id.org/cwl/view/git/f07a07037e7c162f117b3706614d885741a44518/types/ExomeseqStudyType.yml#ExomeseqStudyType
raw_variants File[]
resource_dbsnp File
interval_padding Integer (Optional)
reference_genome File
snp_resource_1kg File
snp_resource_omni File
snp_resource_hapmap File
indel_resource_mills File
target_interval_list File

Steps

ID Runs Label Doc
apply_vqsr_snps
../tools/GATK4/GATK4-ApplyVQSR.cwl (CommandLineTool)
collect_metrics
../tools/GATK4/GATK4-CollectVariantCallingMetrics.cwl (CommandLineTool)
combine_variants
../tools/GATK4/GATK4-CombineGVCFs.cwl (CommandLineTool)
joint_genotyping
../tools/GATK4/GATK4-GenotypeGVCFs.cwl (CommandLineTool)
apply_vqsr_indels
../tools/GATK4/GATK4-ApplyVQSR.cwl (CommandLineTool)
extract_sequence_dict
../utils/extract-secondary-file.cwl (ExpressionTool)
generate_joint_filenames
../utils/generate-joint-filenames-gatk4.cwl (ExpressionTool)
Generates a set of file names for joint steps based on an input name
generate_annotations_snps
../utils/generate-variant-recalibration-annotation-set.cwl (ExpressionTool)
Given an ExomeseqStudyType returns an array of the annotations to use.

The InbreedingCoeff is a population level statistic that requires at least 10 samples in order to be computed. For projects with fewer samples, or that includes many closely related samples (such as a family) please omit this annotation from the command line. From https://software.broadinstitute.org/gatk/documentation/article?id=1259

variant_recalibration_snps
../tools/GATK4/GATK4-VariantRecalibrator-SNPs.cwl (CommandLineTool)
generate_annotations_indels
../utils/generate-variant-recalibration-annotation-set.cwl (ExpressionTool)
Given an ExomeseqStudyType returns an array of the annotations to use.

The InbreedingCoeff is a population level statistic that requires at least 10 samples in order to be computed. For projects with fewer samples, or that includes many closely related samples (such as a family) please omit this annotation from the command line. From https://software.broadinstitute.org/gatk/documentation/article?id=1259

variant_recalibration_indels
../tools/GATK4/GATK4-VariantRecalibrator-Indels.cwl (CommandLineTool)

Outputs

ID Type Label Doc
detail_metrics File
summary_metrics File
joint_raw_variants File

VCF file from joint genotyping calling

variant_recalibration_indels_vcf File

The output VCF file after INDEL recalibration

variant_recalibration_combined_vcf File

The output VCF file after INDEL and SNP recalibration

variant_recalibration_snps_tranches File

The output tranches file used by ApplyVQSR in SNP mode

variant_recalibration_indels_tranches File

The output tranches file used by ApplyVQSR in INDEL mode

variant_recalibration_snps_recalibration File

The output recalibration file used by ApplyVQSR in SNP mode

variant_recalibration_snps_indels_recalibration File

The output recalibration file used by ApplyVQSR in INDEL mode

Permalink: https://w3id.org/cwl/view/git/f07a07037e7c162f117b3706614d885741a44518/subworkflows/exomeseq-gatk4-02-variantdiscovery.cwl