Workflow: exome alignment and germline variant detection
Fetched 2026-09-08 16:43:27 GMT
Verified with cwltool version 3.1.20230201224320
- Selected
- |
- Default Values
- Nested Workflows
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- Inputs/Outputs
This workflow is Open Source and may be reused according to the terms of:
MIT License
Note that the tools invoked by the workflow may have separate licenses.
Inputs
| ID | Type | Title | Doc |
|---|---|---|---|
| bams | File[] | ||
| mills | File | ||
| omni_vcf | File | ||
| dbsnp_vcf | File | ||
| intervals | b3aa1d0f2f58d0b024ca8263f93343cb[] | ||
| reference | String | ||
| readgroups | String[] | ||
| known_indels | File | ||
| gvcf_gq_bands | String[] | ||
| synonyms_file | File (Optional) | ||
| vep_cache_dir | String | ||
| bait_intervals | File | ||
| bqsr_intervals | String[] (Optional) | ||
| target_intervals | File | ||
| custom_gnomad_vcf | File (Optional) | ||
| summary_intervals | https://w3id.org/cwl/view/git/479c9b3e3fa32ec9c7cd4073cfbccc675fd254d9/definitions/types/labelled_file.yml#labelled_file[] | ||
| custom_clinvar_vcf | File (Optional) | ||
| per_base_intervals | https://w3id.org/cwl/view/git/479c9b3e3fa32ec9c7cd4073cfbccc675fd254d9/definitions/types/labelled_file.yml#labelled_file[] | ||
| 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 |
|
| annotate_coding_only | Boolean (Optional) | ||
| per_target_intervals | https://w3id.org/cwl/view/git/479c9b3e3fa32ec9c7cd4073cfbccc675fd254d9/definitions/types/labelled_file.yml#labelled_file[] | ||
| vep_ensembl_assembly | String |
genome assembly to use in vep. Examples: GRCh38 or GRCm38 |
|
| qc_minimum_base_quality | Integer (Optional) | ||
| emit_reference_confidence | String | ||
| qc_minimum_mapping_quality | Integer (Optional) | ||
| picard_metric_accumulation_level | String |
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 |
../subworkflows/germline_detect_variants.cwl
(Workflow)
|
exome alignment and germline variant detection | |
| extract_freemix |
germline_exome.cwl#extract_freemix/cb97be15-109a-4996-b300-bd5e5ad35fac
(ExpressionTool)
|
||
| alignment_and_qc |
exome_alignment.cwl
(Workflow)
|
exome alignment with qc |
Outputs
| ID | Type | Label | Doc |
|---|---|---|---|
| cram | File | ||
| gvcf | File[] | ||
| final_vcf | File | ||
| flagstats | File | ||
| coding_vcf | File | ||
| hs_metrics | File | ||
| limited_vcf | File | ||
| vep_summary | File | ||
| summary_hs_metrics | File[] | ||
| insert_size_metrics | File | ||
| per_base_hs_metrics | File[] | ||
| verify_bam_id_depth | File | ||
| insert_size_histogram | File | ||
| per_target_hs_metrics | File[] | ||
| verify_bam_id_metrics | File | ||
| mark_duplicates_metrics | File | ||
| alignment_summary_metrics | File | ||
| per_base_coverage_metrics | File[] | ||
| per_target_coverage_metrics | File[] |
Permalink:
https://w3id.org/cwl/view/git/479c9b3e3fa32ec9c7cd4073cfbccc675fd254d9/definitions/pipelines/germline_exome.cwl
