feat: Add cadd for indels by kristinebilgrav · Pull Request #59 · Clinical-Genomics/oncorefiner

kristinebilgrav · 2026-03-27T15:20:41Z

Closes https://github.com/Clinical-Genomics/wgs-cancer-pipeline/issues/27

Added

CADD score annotation for indels
- created a subworkflow for the process (annotate_cadd)
  - Only runs if the val_cadd_resources is populated
- added modules GAWK, CADD
- compatibility with both GRCh37 and GRCh38
test for subworkflow:
- NOTE: cadd resources are very large, which makes creating a test dataset hard, but this is being worked on in raredisease Add annotate_cadd subworkflow test nf-core/raredisease#794. We can update the test when this is completed. Therefore:
  - the subworkflow test is run in stub mode only currently
  - the default test does not run the annotate_cadd subworkflow

Test on hasta

…dd-cadd

github-actions · 2026-03-27T15:20:51Z

PR checklist

Fill in description of the PR and link to any relevant issues.
If you've fixed a bug or added code that should be tested, add tests!
If you've added a new tool, follow the pipeline conventions in the contribution docs.
Usage Documentation in docs/usage.md is updated.
Output Documentation in docs/output.md is updated.
README.md is updated (including new tool citations and authors/contributors).

github-actions · 2026-03-27T15:24:10Z

`nf-core pipelines lint` overall result: Passed ✅ ⚠️

Posted for pipeline commit 8e0d785

+| ✅ 181 tests passed       |+
#| ❔  14 tests were ignored |#
!| ❗  25 tests had warnings |!

Details

❗ Test warnings:

readme - README contains the placeholder zenodo.XXXXXXX. This should be replaced with the zenodo doi (after the first release).
pipeline_todos - TODO string in README.md: TODO nf-core:
pipeline_todos - TODO string in README.md: Include a figure that guides the user through the major workflow steps. Many nf-core
pipeline_todos - TODO string in README.md: Fill in short bullet-pointed list of the default steps in the pipeline 2. Present QC for raw reads (MultiQC)
pipeline_todos - TODO string in README.md: Describe the minimum required steps to execute the pipeline, e.g. how to prepare samplesheets.
pipeline_todos - TODO string in README.md: update the following command to include all required parameters for a minimal example
pipeline_todos - TODO string in README.md: Add citation for pipeline after first release. Uncomment lines below and update Zenodo doi and badge at the top of this file.
pipeline_todos - TODO string in README.md: Add bibliography of tools and data used in your pipeline
pipeline_todos - TODO string in nextflow.config: Specify your pipeline's command line flags
pipeline_todos - TODO string in nextflow.config: Optionally, you can add a pipeline-specific nf-core config at https://github.com/nf-core/configs
pipeline_todos - TODO string in nextflow.config: Update the field with the details of the contributors to your pipeline. New with Nextflow version 24.10.0
pipeline_todos - TODO string in base.config: Check the defaults for all processes
pipeline_todos - TODO string in base.config: Customise requirements for specific processes.
pipeline_todos - TODO string in test.config: Specify the paths to your test data on nf-core/test-datasets
pipeline_todos - TODO string in test.config: Give any required params for the test so that command line flags are not needed
pipeline_todos - TODO string in test_full.config: Specify the paths to your full test data ( on nf-core/test-datasets or directly in repositories, e.g. SRA)
pipeline_todos - TODO string in test_full.config: Give any required params for the test so that command line flags are not needed
pipeline_todos - TODO string in main.nf: Optionally add in-text citation tools to this list.
pipeline_todos - TODO string in main.nf: Optionally add bibliographic entries to this list.
pipeline_todos - TODO string in main.nf: Only uncomment below if logic in toolCitationText/toolBibliographyText has been filled!
pipeline_todos - TODO string in methods_description_template.yml: #Update the HTML below to your preferred methods description, e.g. add publication citation for this pipeline
pipeline_todos - TODO string in nextflow.config: Specify any additional parameters here
pipeline_todos - TODO string in usage.md: Add documentation about anything specific to running your pipeline. For general topics, please point to (and add to) the main nf-core website.
pipeline_todos - TODO string in output.md: Write this documentation describing your workflow's output
local_component_structure - prepare_references.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure

❔ Tests ignored:

files_exist - File is ignored: .github/workflows/awstest.yml
files_exist - File is ignored: .github/workflows/awsfulltest.yml
files_exist - File is ignored: conf/igenomes.config
files_exist - File is ignored: conf/igenomes_ignored.config
files_unchanged - File ignored due to lint config: .github/ISSUE_TEMPLATE/bug_report.yml
files_unchanged - File ignored due to lint config: .github/ISSUE_TEMPLATE/feature_request.yml
files_unchanged - File ignored due to lint config: .github/PULL_REQUEST_TEMPLATE.md
files_unchanged - File ignored due to lint config: .github/workflows/linting.yml
files_unchanged - File ignored due to lint config: assets/sendmail_template.txt
files_unchanged - File ignored due to lint config: docs/README.md
files_unchanged - File ignored due to lint config: .gitignore or .prettierignore
actions_awstest - actions_awstest
actions_awsfulltest - actions_awsfulltest
multiqc_config - multiqc_config

✅ Tests passed:

files_exist - File found: .gitattributes
files_exist - File found: .gitignore
files_exist - File found: .nf-core.yml
files_exist - File found: .prettierignore
files_exist - File found: .prettierrc.yml
files_exist - File found: CHANGELOG.md
files_exist - File found: CITATIONS.md
files_exist - File found: CODE_OF_CONDUCT.md
files_exist - File found: LICENSE or LICENSE.md or LICENCE or LICENCE.md
files_exist - File found: nextflow_schema.json
files_exist - File found: nextflow.config
files_exist - File found: README.md
files_exist - File found: .github/.dockstore.yml
files_exist - File found: .github/CONTRIBUTING.md
files_exist - File found: .github/ISSUE_TEMPLATE/bug_report.yml
files_exist - File found: .github/ISSUE_TEMPLATE/config.yml
files_exist - File found: .github/ISSUE_TEMPLATE/feature_request.yml
files_exist - File found: .github/PULL_REQUEST_TEMPLATE.md
files_exist - File found: .github/workflows/branch.yml
files_exist - File found: .github/workflows/nf-test.yml
files_exist - File found: .github/actions/get-shards/action.yml
files_exist - File found: .github/actions/nf-test/action.yml
files_exist - File found: .github/workflows/linting_comment.yml
files_exist - File found: .github/workflows/linting.yml
files_exist - File found: assets/email_template.html
files_exist - File found: assets/email_template.txt
files_exist - File found: assets/sendmail_template.txt
files_exist - File found: assets/nf-core-oncorefiner_logo_light.png
files_exist - File found: conf/modules.config
files_exist - File found: conf/test.config
files_exist - File found: conf/test_full.config
files_exist - File found: docs/images/nf-core-oncorefiner_logo_light.png
files_exist - File found: docs/images/nf-core-oncorefiner_logo_dark.png
files_exist - File found: docs/output.md
files_exist - File found: docs/README.md
files_exist - File found: docs/README.md
files_exist - File found: docs/usage.md
files_exist - File found: nf-test.config
files_exist - File found: tests/default.nf.test
files_exist - File found: main.nf
files_exist - File found: assets/multiqc_config.yml
files_exist - File found: conf/base.config
files_exist - File found: modules.json
files_exist - File found: ro-crate-metadata.json
files_exist - File not found check: .github/ISSUE_TEMPLATE/bug_report.md
files_exist - File not found check: .github/ISSUE_TEMPLATE/feature_request.md
files_exist - File not found check: .github/workflows/push_dockerhub.yml
files_exist - File not found check: .markdownlint.yml
files_exist - File not found check: .nf-core.yaml
files_exist - File not found check: .yamllint.yml
files_exist - File not found check: bin/markdown_to_html.r
files_exist - File not found check: conf/aws.config
files_exist - File not found check: docs/images/nf-core-oncorefiner_logo.png
files_exist - File not found check: lib/Checks.groovy
files_exist - File not found check: lib/Completion.groovy
files_exist - File not found check: lib/NfcoreTemplate.groovy
files_exist - File not found check: lib/Utils.groovy
files_exist - File not found check: lib/Workflow.groovy
files_exist - File not found check: lib/WorkflowMain.groovy
files_exist - File not found check: lib/WorkflowOncorefiner.groovy
files_exist - File not found check: parameters.settings.json
files_exist - File not found check: pipeline_template.yml
files_exist - File not found check: Singularity
files_exist - File not found check: lib/nfcore_external_java_deps.jar
files_exist - File not found check: .travis.yml
nextflow_config - Found nf-schema plugin
nextflow_config - Config variable found: manifest.name
nextflow_config - Config variable found: manifest.nextflowVersion
nextflow_config - Config variable found: manifest.description
nextflow_config - Config variable found: manifest.version
nextflow_config - Config variable found: manifest.homePage
nextflow_config - Config variable found: timeline.enabled
nextflow_config - Config variable found: trace.enabled
nextflow_config - Config variable found: report.enabled
nextflow_config - Config variable found: dag.enabled
nextflow_config - Config variable found: process.cpus
nextflow_config - Config variable found: process.memory
nextflow_config - Config variable found: process.time
nextflow_config - Config variable found: params.outdir
nextflow_config - Config variable found: params.input
nextflow_config - Config variable found: manifest.mainScript
nextflow_config - Config variable found: timeline.file
nextflow_config - Config variable found: trace.file
nextflow_config - Config variable found: report.file
nextflow_config - Config variable found: dag.file
nextflow_config - Config variable (correctly) not found: params.nf_required_version
nextflow_config - Config variable (correctly) not found: params.container
nextflow_config - Config variable (correctly) not found: params.singleEnd
nextflow_config - Config variable (correctly) not found: params.igenomesIgnore
nextflow_config - Config variable (correctly) not found: params.name
nextflow_config - Config variable (correctly) not found: params.enable_conda
nextflow_config - Config variable (correctly) not found: params.max_cpus
nextflow_config - Config variable (correctly) not found: params.max_memory
nextflow_config - Config variable (correctly) not found: params.max_time
nextflow_config - Config variable (correctly) not found: params.validationFailUnrecognisedParams
nextflow_config - Config variable (correctly) not found: params.validationLenientMode
nextflow_config - Config variable (correctly) not found: params.validationSchemaIgnoreParams
nextflow_config - Config variable (correctly) not found: params.validationShowHiddenParams
nextflow_config - Config variable (correctly) not found: validation.failUnrecognisedParams
nextflow_config - Config variable (correctly) not found: validation.failUnrecognisedHeaders
nextflow_config - Config timeline.enabled had correct value: true
nextflow_config - Config report.enabled had correct value: true
nextflow_config - Config trace.enabled had correct value: true
nextflow_config - Config dag.enabled had correct value: true
nextflow_config - Config manifest.name began with Clinical-Genomics/
nextflow_config - Config variable manifest.homePage began with https://github.com/Clinical-Genomics/
nextflow_config - Config dag.file ended with .html
nextflow_config - Config variable manifest.nextflowVersion started with >= or !>=
nextflow_config - Config manifest.version ends in dev: 1.0.0dev
nextflow_config - Config params.custom_config_version is set to master
nextflow_config - Config params.custom_config_base is set to https://raw.githubusercontent.com/nf-core/configs/master
nextflow_config - Lines for loading custom profiles found
nextflow_config - nextflow.config contains configuration profile test
nextflow_config - Config default value correct: params.genome= GRCh38
nextflow_config - Config default value correct: params.species= homo_sapiens
nextflow_config - Config default value correct: params.vep_cache_version= 112
nextflow_config - Config default value correct: params.custom_config_version= master
nextflow_config - Config default value correct: params.custom_config_base= https://raw.githubusercontent.com/nf-core/configs/master
nextflow_config - Config default value correct: params.publish_dir_mode= copy
nextflow_config - Config default value correct: params.max_multiqc_email_size= 25.MB
nextflow_config - Config default value correct: params.validate_params= true
nextflow_config - Config default value correct: params.pipelines_testdata_base_path= https://raw.githubusercontent.com/Clinical-Genomics/test-datasets/refs/heads/oncorefiner/
nf_test_content - 'tests/default.nf.test' contains outdir parameter
nf_test_content - 'tests/default.nf.test' snapshots a 'versions.yml' file
nf_test_content - 'tests/default.nf.test' snapshots a 'versions.yml' file
nf_test_content - 'tests/nextflow.config' contains modules_testdata_base_path
nf_test_content - 'tests/nextflow.config' contains pipelines_testdata_base_path
nf_test_content - 'nf-test.config' sets a testsDir
nf_test_content - 'nf-test.config' sets a workDir
nf_test_content - 'nf-test.config' sets a configFile
files_unchanged - .gitattributes matches the template
files_unchanged - .prettierrc.yml matches the template
files_unchanged - LICENSE matches the template
files_unchanged - .github/.dockstore.yml matches the template
files_unchanged - .github/CONTRIBUTING.md matches the template
files_unchanged - .github/workflows/branch.yml matches the template
files_unchanged - .github/workflows/linting_comment.yml matches the template
files_unchanged - assets/email_template.html matches the template
files_unchanged - assets/email_template.txt matches the template
actions_nf_test - '.github/workflows/nf-test.yml' is triggered on expected events
actions_nf_test - '.github/workflows/nf-test.yml' checks minimum NF version
readme - README Nextflow minimum version badge matched config. Badge: 25.10.0, Config: 25.10.0
readme - README nf-core template version badge found.
pipeline_if_empty_null - No ifEmpty(null) strings found
plugin_includes - No wrong validation plugin imports have been found
pipeline_name_conventions - Name adheres to nf-core convention
template_strings - Did not find any Jinja template strings (0 files)
schema_lint - Schema lint passed
schema_lint - Schema title + description lint passed
schema_lint - Input mimetype lint passed: 'text/csv'
schema_params - Schema matched params returned from nextflow config
system_exit - No System.exit calls found
actions_schema_validation - Workflow validation passed: download_pipeline.yml
actions_schema_validation - Workflow validation passed: nf-test.yml
actions_schema_validation - Workflow validation passed: linting.yml
actions_schema_validation - Workflow validation passed: add_pr_checklist_comment.yml
actions_schema_validation - Workflow validation passed: linting_comment.yml
actions_schema_validation - Workflow validation passed: branch.yml
actions_schema_validation - Workflow validation passed: template-version-comment.yml
actions_schema_validation - Workflow validation passed: fix_linting.yml
actions_schema_validation - Workflow validation passed: update_changelog.yml
actions_schema_validation - Workflow validation passed: conventional_pr_title.yml
actions_schema_validation - Workflow validation passed: clean-up.yml
merge_markers - No merge markers found in pipeline files
modules_json - Only installed modules found in modules.json
modules_structure - modules directory structure is correct 'modules/nf-core/TOOL/SUBTOOL'
local_component_structure - local modules directory structure is correct 'modules/local/TOOL/SUBTOOL'
base_config - conf/base.config found and not ignored.
modules_config - conf/modules.config found and not ignored.
modules_config - MULTIQC found in conf/modules.config and Nextflow scripts.
modules_config - ENSEMBLVEP_SNV found in conf/modules.config and Nextflow scripts.
modules_config - VCFANNO found in conf/modules.config and Nextflow scripts.
modules_config - RESEARCH_FILTERING found in conf/modules.config and Nextflow scripts.
modules_config - CLINICAL_FILTERING found in conf/modules.config and Nextflow scripts.
modules_config - SVDB_QUERY_DB found in conf/modules.config and Nextflow scripts.
modules_config - ENSEMBLVEP_SV found in conf/modules.config and Nextflow scripts.
modules_config - RESEARCH_FILTERING_SV found in conf/modules.config and Nextflow scripts.
modules_config - CLINICAL_FILTERING_SV found in conf/modules.config and Nextflow scripts.
nfcore_yml - Repository type in .nf-core.yml is valid: pipeline
nfcore_yml - nf-core version in .nf-core.yml is set to the latest version: 3.5.2
rocrate_readme_sync - RO-Crate descriptions are in sync with README.md.

Run details

nf-core/tools version 3.5.2
Run at 2026-03-30 15:07:49

workflows/oncorefiner.nf

kristinebilgrav · 2026-03-30T15:07:03Z

workflows/oncorefiner.nf

 include { paramsSummaryMultiqc   } from '../subworkflows/nf-core/utils_nfcore_pipeline'
 include { softwareVersionsToYAML } from '../subworkflows/nf-core/utils_nfcore_pipeline'
 include { methodsDescriptionText } from '../subworkflows/local/utils_nfcore_oncorefiner_pipeline'
+include { PREPARE_REFERENCES     } from '../subworkflows/local/prepare_references'


IDK why this appears here - could be something weird from my merge with dev?

kristinebilgrav · 2026-03-30T15:07:52Z

workflows/oncorefiner.nf

+        ch_samplesheet           // channel: [mandatory] samplesheet read in from --input
+        ch_cadd_header           // channel: [mandatory] [ path(txt) ]
+        ch_cadd_prescored_indels // channel: [optional] [ val(meta), path(dir) ]
+        ch_cadd_resources        // channel: [optional] [ val(meta), path(dir) ]
+        ch_genome_fasta          // channel: [optional]  [val(meta), path(fasta)]
+        ch_genome_fai            // channel: [optional]  [val(meta), path(fai)]
+        ch_snv_vcf               // channel: [optional]  [val(meta), path(vcf)]
+        ch_snv_vcf_tbi           // channel: [optional]  [val(meta), path(vcf.tbi)]
+        ch_sv_dbs                // channel: [optional]  [path(csv)]
+        ch_sv_vcf                // channel: [optional]  [val(meta), path(vcf)]
+        ch_sv_vcf_tbi            // channel: [optional]  [val(meta), path(vcf.tbi)]
+        ch_vcfanno_extra         // channel: [optional]  [path(extra_file1), path(extra_file2), ...]
+        ch_vcfanno_lua           // channel: [optional]  [path(lua_file)]
+        ch_vcfanno_resources     // channel: [optional]  [path(resource_file1), path(resource_file2), ...]
+        ch_vcfanno_toml          // channel: [optional]  [path(toml_file)]
+        ch_vep_cache             // channel: [optional]  [vep_cache_files]
+        ch_vep_extra_files       // channel: [optional]  [path(plugin_file1), path(plugin_file2), ...]
+        val_cadd_resources       // string:  [optional]  path to CADD resources directory
+        val_genome               // string:  [optional]  genome assembly (e.g. "GRCh38")
+        val_species              // string:  [optional]  species (e.g. "homo_sapiens")
+        val_vep_cache_version    // string:  [optional]  version of vep cache to use (e.g. "107")


Same here, I think I just fixed the spacing of the comments for the ones I did not add

kristinebilgrav · 2026-03-30T15:09:10Z

main.nf


    PREPARE_REFERENCES (
-        params.vep_cache
+        val_vep_cache


Noticed that this was still param and not val (#58)

kristinebilgrav added 8 commits February 11, 2026 15:35

add cadd -raw

f7d2a3d

Merge branch 'dev' into add-cadd

638bcf1

Merge branch 'dev' into add-cadd

f07a7e3

update

45cb012

Merge branch 'dev' of github.com:Clinical-Genomics/oncorefiner into a…

adb445b

…dd-cadd

commit update

8b6b8a0

fixing subwf

73774a1

update subwf and test

eafa726

kristinebilgrav requested a review from a team as a code owner March 27, 2026 15:20

Merge branch 'dev' into add-cadd

57d56ee

kristinebilgrav commented Mar 27, 2026

View reviewed changes

workflows/oncorefiner.nf Outdated Show resolved Hide resolved

fixing inputs

1448d88

kristinebilgrav marked this pull request as draft March 27, 2026 15:33

kristinebilgrav added 4 commits March 30, 2026 14:00

update test

175639a

merge dev

e640c7c

fix so default test does not run cadd

728f2b9

changelog and small fixes

8e0d785

kristinebilgrav commented Mar 30, 2026

View reviewed changes

fix

217fd8d

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feat: Add cadd for indels#59

feat: Add cadd for indels#59
kristinebilgrav wants to merge 15 commits intodevfrom
add-cadd

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Test on hasta

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nf-core pipelines lint overall result: Passed ✅ ⚠️

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`nf-core pipelines lint` overall result: Passed ✅ ⚠️