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docs: Update documentation#48

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beatrizsavinhas wants to merge 37 commits intodevfrom
28-update-documentation
Draft

docs: Update documentation#48
beatrizsavinhas wants to merge 37 commits intodevfrom
28-update-documentation

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@beatrizsavinhas beatrizsavinhas commented Mar 12, 2026

Closes #28.

Changed

  • Added .github/CONTRIBUTING.md to the list of files for lint ignore since it no longer follows the nf-core template.

Fixed

  • Updated template description in .nf-core.yml.
  • Updated parameters.md by running pre-commit.
  • Fix formatting and typos and added missing information in CHANGELOG.md.
  • Updated .github/CONTRIBUTING.md:
    • Added instructions on how to install dependencies for development.
    • Added instructions on how to update the nf-core tools template.
    • Added information on PR conventions and review process.
    • Moved to the main root to make the file easier to find.
  • Updated README.md:
    • Added placeholder logo.
    • Filled in introduction section.
    • Added contributors.
    • Updated Usage section.
  • Updated CITATIONS.md.
  • Updated docs/usage.md. Input information will be updated when the input file structure is decided.
  • Updated docs/output.md with an example. To be expanded when output file structure is decided.

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github-actions bot commented Mar 12, 2026

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).

@beatrizsavinhas beatrizsavinhas changed the title Update documentation docs: Update documentation Mar 12, 2026
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github-actions bot commented Mar 12, 2026

nf-core pipelines lint overall result: Failed ❌

Posted for pipeline commit 46e2fe0

+| ✅ 179 tests passed       |+
#| ❔  15 tests were ignored |#
#| ❔   1 tests had warnings |#
!| ❗  18 tests had warnings |!
-| ❌   1 tests failed       |-
Details

❌ Test failures:

  • files_exist - File not found: .github/CONTRIBUTING.md

❗ 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: Include a figure that guides the user through the major workflow steps. Many nf-core
  • 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 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 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 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!
  • local_component_structure - prepare_references.nf in subworkflows/local should be moved to a SUBWORKFLOW_NAME/main.nf structure

❔ Tests ignored:

❔ Tests fixed:

✅ Tests passed:

Run details

  • nf-core/tools version 3.5.2
  • Run at 2026-03-20 13:50:24

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@beatrizsavinhas beatrizsavinhas Mar 16, 2026

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Moved PR link to the beginning of the line as I think it makes it easier to read when rendered. Thoughts?

Comment on lines 87 to 88
<!-- TODO nf-core: Add citation for pipeline after first release. Uncomment lines below and update Zenodo doi and badge at the top of this file. -->
<!-- If you use Clinical-Genomics/oncorefiner for your analysis, please cite it using the following doi: [10.5281/zenodo.XXXXXX](https://doi.org/10.5281/zenodo.XXXXXX) -->
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This is to be updated after the first release!

<!-- TODO nf-core: Add citation for pipeline after first release. Uncomment lines below and update Zenodo doi and badge at the top of this file. -->
<!-- If you use Clinical-Genomics/oncorefiner for your analysis, please cite it using the following doi: [10.5281/zenodo.XXXXXX](https://doi.org/10.5281/zenodo.XXXXXX) -->

<!-- TODO nf-core: Add bibliography of tools and data used in your pipeline -->
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@beatrizsavinhas beatrizsavinhas Mar 16, 2026

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Added to CITATIONS.md which is mentioned in the next line.
If we use additional data in the pipeline in the future, we should document that here.

Comment on lines 54 to 57
nextflow run Clinical-Genomics/oncorefiner \
-profile <docker/singularity/.../institute> \
--input samplesheet.csv \
--outdir <OUTDIR>
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@beatrizsavinhas beatrizsavinhas Mar 16, 2026

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Are there any other parameters required for a minimal run? See comment above.

Comment on lines +34 to +48
1. Process SNV VCF files
1. Annotate with [`Vcfanno`](https://github.com/brentp/vcfanno)
1. Filter according to call quality with [`bcftools`](https://github.com/samtools/bcftools)
1. Filter according to user provided list of research relevant variant with [`bcftools`](https://github.com/samtools/bcftools)
1. Annotate with [`VEP`](https://www.ensembl.org/info/docs/tools/vep/index.html)
1. Filter according to user provided list of clinically relevant variants with [`bcftools`](https://github.com/samtools/bcftools)

1. Process SV VCF files
1. SVDB QUERY ???
1. Filter according to call quality with ???
1. Filter according to user provided list of research relevant variant with [`bcftools`](https://github.com/samtools/bcftools)
1. Annotate with [`VEP`](https://www.ensembl.org/info/docs/tools/vep/index.html)
1. Filter according to user provided list of clinically relevant variants with [`bcftools`](https://github.com/samtools/bcftools)

1. Present QC for raw reads ([`MultiQC`](http://multiqc.info/))
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@beatrizsavinhas beatrizsavinhas Mar 16, 2026

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Can you check this information and fill in the missing parts marked with ????

## Introduction

**Clinical-Genomics/oncorefiner** is a bioinformatics pipeline that ...
**Clinical-Genomics/oncorefiner** is a customizable post-processing and extension layer for Oncoanalyser that adapts its outputs according to clinical and operational needs, adds missing analyses, and ensures flexibility for evolving standards while retaining Oncoanalyser's robust core.
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@beatrizsavinhas beatrizsavinhas Mar 17, 2026

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Added the same text that is in .nf-core.yml. We could provide a bit more information about the processes and the output when the issues mentioned above are cleared out.


<!-- TODO nf-core: Add documentation about anything specific to running your pipeline. For general topics, please point to (and add to) the main nf-core website. -->

## Samplesheet input
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This information is general for the use of samplesheets. For oncorefiner, this will change when we decide on an input file strategy in https://github.com/Clinical-Genomics/CancerBioInfo/issues/101. Same for usage information in README.md. Added that as acceptance criterion for the issue.

Do you want to include the input VCF file parameters here already or should we leave this for when we figure things out in the issue above?

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@beatrizsavinhas beatrizsavinhas Mar 17, 2026

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All of this would be changed once the issue to Clean up pipeline output structure and file naming is cleared out. I think we should wait to write this until after that and keep what is here as a placeholder for now. I have included updating the documentation as an acceptance criterion for the issue above.

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This is not present in the acceptance criteria or PR description since I wanted to hear your opinions first!

I thought it would be nice to add a link to the contributing guidelines when you are about to create an issue. What do you think? 🙂

Comment on lines +30 to +63

1. Process SNV VCF files
1. Annotate with [`Vcfanno`](https://github.com/brentp/vcfanno)
1. Filter according to call quality with [`bcftools`](https://github.com/samtools/bcftools)
1. Filter according to user provided list of research relevant variant with [`bcftools`](https://github.com/samtools/bcftools)
1. Annotate with [`Ensembl VEP`](https://www.ensembl.org/info/docs/tools/vep/index.html)
1. Filter according to user provided list of clinically relevant variants with [`bcftools`](https://github.com/samtools/bcftools)

1. Process SV VCF files
1. SVDB QUERY ???
1. Filter according to call quality with ???
1. Filter according to user provided list of research relevant variant with [`bcftools`](https://github.com/samtools/bcftools)
1. Annotate with [`Ensembl VEP`](https://www.ensembl.org/info/docs/tools/vep/index.html)
1. Filter according to user provided list of clinically relevant variants with [`bcftools`](https://github.com/samtools/bcftools)

1. Present QC for raw reads ([`MultiQC`](http://multiqc.info/))

### Summary of tools and version used in the pipeline

| Step | Tool | Version |
| --------------------- | ------------- | ------- |
| Clinical Filtering | bcftools | 1.22 |
| Clinical Filtering SV | bcftools | 1.22 |
| EnsemblVEP SNV | ensemblvep | 115.2 |
| EnsemblVEP SNV | perl-math-cdf | 0.1 |
| EnsemblVEP SNV | tabix | 1.21 |
| EnsemblVEP SV | ensemblvep | 115.2 |
| EnsemblVEP SV | perl-math-cdf | 0.1 |
| EnsemblVEP SV | tabix | 1.21 |
| Research Filtering | bcftools | 1.22 |
| Research Filtering SV | bcftools | 1.22 |
| SVDB Query DB | svdb | 2.8.4 |
| Untar VEP Cache | untar | 1.34 |
| Vcfanno | vcfanno | 0.3.7 |
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Another option for the structure of this section is following what /nf-core/raredisease did!
But perhaps the versions are still relevant to include? You can always see them in the pipeline_info/*versions.yml but it can be nice to have it written here and not have to run the pipeline to get it.

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I think we should adopt a lot of things from the raredisease contributing guidelines!

Thoughts?
This will give us more merge conflicts when the template is updated, but I think it's worth it since it's very important information.

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Update documentation

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