Workflow: wgs alignment and germline variant detection
Fetched 2024-11-28 11:00:35 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 |
|---|---|---|---|
| ploidy | Integer (Optional) | ||
| omni_vcf | File | ||
| sequence | https://w3id.org/cwl/view/git/5fda2d9eb52a363bd51011b3851c2afb86318c0c/definitions/types/sequence_data.yml#sequence_data[] | sequence: sequencing data and readgroup information |
sequence represents the sequencing data as either FASTQs or BAMs with accompanying readgroup information. Note that in the @RG field ID and SM are required. |
| trimming | https://w3id.org/cwl/view/git/5fda2d9eb52a363bd51011b3851c2afb86318c0c/definitions/types/trimming_options.yml#trimming_options (Optional) | ||
| intervals | 793103b6d5cd1ab5f8429fb24b4dc634[] | ||
| reference | File | ||
| vep_plugins | String[] (Optional) |
array of plugins to use when running vep |
|
| qc_intervals | File | ||
| cnvkit_method | |||
| gvcf_gq_bands | String[] | ||
| manta_non_wgs | Boolean (Optional) | ||
| merge_min_svs | Integer | ||
| synonyms_file | File (Optional) | ||
| vep_cache_dir | Directory | ||
| bqsr_intervals | String[] (Optional) | ||
| cnvkit_diagram | Boolean (Optional) | ||
| blocklist_bedpe | File (Optional) | ||
| cnvkit_vcf_name | String (Optional) | ||
| disclaimer_text | String (Optional) | ||
| merge_same_type | Boolean | ||
| bqsr_known_sites | File[] |
One or more databases of known polymorphic sites used to exclude regions around known polymorphisms from analysis. |
|
| merge_min_sv_size | Integer | ||
| merge_same_strand | Boolean | ||
| summary_intervals | https://w3id.org/cwl/view/git/5fda2d9eb52a363bd51011b3851c2afb86318c0c/definitions/types/labelled_file.yml#labelled_file[] | ||
| manta_call_regions | File (Optional) | ||
| merge_max_distance | Integer | ||
| per_base_intervals | https://w3id.org/cwl/view/git/5fda2d9eb52a363bd51011b3851c2afb86318c0c/definitions/types/labelled_file.yml#labelled_file[] | ||
| cnv_filter_min_size | Integer (Optional) | ||
| cnvkit_scatter_plot | Boolean (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) | ||
| cnvkit_reference_cnn | File (Optional) | ||
| manta_output_contigs | Boolean (Optional) | ||
| minimum_base_quality | Integer (Optional) | ||
| per_target_intervals | https://w3id.org/cwl/view/git/5fda2d9eb52a363bd51011b3851c2afb86318c0c/definitions/types/labelled_file.yml#labelled_file[] | ||
| vep_ensembl_assembly | String |
genome assembly to use in vep. Examples: GRCh38 or GRCm38 |
|
| cnvkit_male_reference | Boolean (Optional) | ||
| sv_filter_split_count | Integer (Optional) | ||
| smoove_exclude_regions | File (Optional) | ||
| sv_filter_paired_count | Integer (Optional) | ||
| vep_custom_annotations | https://w3id.org/cwl/view/git/5fda2d9eb52a363bd51011b3851c2afb86318c0c/definitions/types/vep_custom_annotation.yml#vep_custom_annotation[] |
custom type, check types directory for input format |
|
| minimum_mapping_quality | Integer (Optional) | ||
| cnvkit_drop_low_coverage | Boolean (Optional) | ||
| variants_to_table_fields | String[] (Optional) | ||
| cnv_filter_deletion_depth | Double (Optional) | ||
| merge_estimate_sv_distance | Boolean | ||
| variant_reporting_intervals | File | ||
| cnv_filter_duplication_depth | Double (Optional) | ||
| picard_metric_accumulation_level | String | ||
| variants_to_table_genotype_fields | String[] (Optional) | ||
| sv_filter_alt_abundance_percentage | Double (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 |
../subworkflows/germline_detect_variants.cwl
(Workflow)
|
exome alignment and germline variant detection | |
| extract_freemix |
germline_wgs.cwl#extract_freemix/389dc5f4-091b-446a-9221-9b2032227d96
(ExpressionTool)
|
||
| alignment_and_qc |
alignment_wgs.cwl
(Workflow)
|
wgs alignment with qc | |
| sv_detect_variants |
../subworkflows/single_sample_sv_callers.cwl
(Workflow)
|
Subworkflow to allow calling different SV callers which require bam files as inputs | |
| add_disclaimer_final_tsv |
../tools/add_string_at_line.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a file | |
| add_disclaimer_final_vcf |
../tools/add_string_at_line_bgzipped.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a gzipped file | |
| index_disclaimer_final_vcf |
../tools/index_vcf.cwl
(CommandLineTool)
|
vcf index | |
| add_disclaimer_filtered_tsv |
../tools/add_string_at_line.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a file | |
| add_disclaimer_filtered_vcf |
../tools/add_string_at_line_bgzipped.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a gzipped file | |
| index_disclaimer_filtered_vcf |
../tools/index_vcf.cwl
(CommandLineTool)
|
vcf index | |
| add_disclaimer_bcftools_sv_tsv |
../tools/add_string_at_line.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a file | |
| add_disclaimer_bcftools_sv_vcf |
../tools/add_string_at_line_bgzipped.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a gzipped file | |
| add_disclaimer_survivor_sv_tsv |
../tools/add_string_at_line.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a file | |
| add_disclaimer_survivor_sv_vcf |
../tools/add_string_at_line_bgzipped.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a gzipped file | |
| add_disclaimer_bcftools_filtered_sv_tsv |
../tools/add_string_at_line.cwl
(CommandLineTool)
|
Insert an arbitrary string at a specific line of a file |
Outputs
| ID | Type | Label | Doc |
|---|---|---|---|
| cram | File | ||
| raw_vcf | File | ||
| final_tsv | File | ||
| final_vcf | File | ||
| flagstats | File | ||
| cn_diagram | File (Optional) | ||
| cnvkit_vcf | File | ||
| vep_summary | File | ||
| wgs_metrics | File | ||
| cnvnator_vcf | File | ||
| filtered_tsv | File | ||
| filtered_vcf | File | ||
| cnvnator_root | File | ||
| cn_scatter_plot | File (Optional) | ||
| gc_bias_metrics | File | ||
| cnvnator_cn_file | File | ||
| manta_filtered_vcf | File | ||
| summary_hs_metrics | File[] | ||
| bcftools_merged_vcf | File | ||
| cnvkit_filtered_vcf | File | ||
| insert_size_metrics | File | ||
| per_base_hs_metrics | File[] | ||
| smoove_filtered_vcf | File | ||
| survivor_merged_vcf | File | ||
| verify_bam_id_depth | File | ||
| manta_all_candidates | File | ||
| cnvnator_filtered_vcf | File | ||
| gc_bias_metrics_chart | File | ||
| insert_size_histogram | File | ||
| per_target_hs_metrics | File[] | ||
| tumor_target_coverage | File | ||
| verify_bam_id_metrics | File | ||
| manta_diploid_variants | File (Optional) | ||
| manta_small_candidates | File | ||
| manta_somatic_variants | File (Optional) | ||
| smoove_output_variants | File | ||
| tumor_bin_level_ratios | File | ||
| tumor_segmented_ratios | File | ||
| gc_bias_metrics_summary | File | ||
| mark_duplicates_metrics | File | ||
| alignment_summary_metrics | File | ||
| manta_tumor_only_variants | File (Optional) | ||
| per_base_coverage_metrics | File[] | ||
| tumor_antitarget_coverage | File | ||
| per_target_coverage_metrics | File[] | ||
| bcftools_merged_annotated_tsv | File | ||
| survivor_merged_annotated_tsv | File | ||
| bcftools_merged_filtered_annotated_tsv | File |
Permalink:
https://w3id.org/cwl/view/git/5fda2d9eb52a363bd51011b3851c2afb86318c0c/definitions/pipelines/germline_wgs.cwl
