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47 changes: 47 additions & 0 deletions .github/CONTRIBUTING.md
Original file line number Diff line number Diff line change
Expand Up @@ -21,6 +21,46 @@ If you'd like to write some code for Clinical-Genomics/oncorefiner, the standard

If you're not used to this workflow with git, you can start with some [docs from GitHub](https://help.github.com/en/github/collaborating-with-issues-and-pull-requests) or even their [excellent `git` resources](https://try.github.io/).

### Pull Requests

When opening a pull request to suggest changes to the code, please make sure to follow the [Pipeline contribution conventions](#pipeline-contribution-conventions) for the code and to fill in the necessary information in the pull request template as well as address all points in the `PR checklist`.

#### PR title conventions

We have implemented a standardised PR title format to make it easier to understand the type of change being proposed at a glance.
Addionally, there is an automated check for every PR that will only allow mergere if the title adheres to one of the following formats:

- feat: A new feature
- fix: A bug fix
- docs: Documentation only changes
- style: Changes that do not affect the meaning of the code (white-space, formatting, missing semi-colons, etc)
- refactor: A code change that neither fixes a bug nor adds a feature
- perf: A code change that improves performance
- test: Adding missing tests or correcting existing tests
- build: Changes that affect the build system or external dependencies (example scopes: gulp, broccoli, npm)
- ci: Changes to our CI configuration files and scripts (example scopes: Travis, Circle, BrowserStack, SauceLabs)
- chore: Other changes that don't modify src or test files
- revert: Reverts a previous commit

#### Review

When reviewing a PR, make sure to check that:

- The code follows the [Pipeline contribution conventions](#pipeline-contribution-conventions).
- The information in the PR (and related issue) is clear and sufficient to understand the change and the motivation for it - title, description and entry in `CHANGELOG.md`, if applicable.
- All the items in the `PR checklist` have been addressed, the changes are well documented and the tests are passing.

Be positive and constructive in your review, and whenever possible offer suggestions for improvement rather than just pointing out issues.

## Installation and dependencies for development

In order to run the pipeline, develop and test your changes locally, we recommend that you set up:

- A conda environment with `nextflow` and `nf-core` tools. - For this, follow the instructions from the [nf-core documentation](https://nf-co.re/docs/nf-core-tools/installation). Additional information about [Installation of nf-core dependencies](https://nf-co.re/docs/usage/getting_started/installation/) is also available, if needed.
- Install Docker (https://docs.docker.com/engine/install/) and make sure the daemon is running when you want to run the tests locally.

Make sure to [test your setup](https://nf-co.re/docs/usage/introduction#how-to-run-a-pipeline) with `-profile test` before running the workflow on actual data.

## Tests

You have the option to test your changes locally by running the pipeline. For receiving warnings about process selectors and other `debug` information, it is recommended to use the debug profile. Execute all the tests with the following command:
Expand Down Expand Up @@ -98,6 +138,13 @@ Please use the following naming schemes, to make it easy to understand what is g

If you are using a new feature from core Nextflow, you may bump the minimum required version of nextflow in the pipeline with: `nf-core pipelines bump-version --nextflow . [min-nf-version]`

### Update nf-core template

Since this is not an nf-core pipeline, the nf-core template is not automatically updated in the `TEMPLATE` branch. Follow these step to update the template:

1. Update the `TEMPLATE` branch by running `nf-core pipelines sync`. Fix any merge conflicts and open a PR to then merge the changes.
1. Open a PR to merge the `TEMPLATE` branch into `dev` to update the template files in the main codebase.

### Images and figures

For overview images and other documents we follow the nf-core [style guidelines and examples](https://nf-co.re/developers/design_guidelines).
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8 changes: 4 additions & 4 deletions .nf-core.yml
Original file line number Diff line number Diff line change
Expand Up @@ -14,15 +14,15 @@ lint:
- .prettierignore
- assets/sendmail_template.txt
- docs/README.md
- .github/CONTRIBUTING.md
multiqc_config: false
nf_core_version: 3.5.2
repository_type: pipeline
template:
author: Clinical Genomics Stockholm
description: Customizable post-processing and extension layer built on top of Oncoanalyser
that adapts its outputs to clinical and operational needs, adds missing analyses,
and ensures flexibility for evolving standards while retaining Oncoanalyser robust
core
description: 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.
force: false
is_nfcore: false
name: oncorefiner
Expand Down
69 changes: 35 additions & 34 deletions CHANGELOG.md
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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?

Original file line number Diff line number Diff line change
Expand Up @@ -9,47 +9,48 @@ Initial release of Clinical-Genomics/oncorefiner, created with the [nf-core](htt

### `Added`

- Added Ensembl VEP annotation for SNV vcf file [#1](https://github.com/Clinical-Genomics/oncorefiner/pull/1)
- Added VCFANNO annotation for SNV vcf file [#2](https://github.com/Clinical-Genomics/oncorefiner/pull/2)
- Added filtering for SNV vcf file [#3](https://github.com/Clinical-Genomics/oncorefiner/pull/3)
- Added annotation for SV vcf file [#4](https://github.com/Clinical-Genomics/oncorefiner/pull/4)
- Added filtering for SV vcf file [#5](https://github.com/Clinical-Genomics/oncorefiner/pull/5)
- Added small test profile. The related test dataset have been added as a branch called oncorefiner under [Clinical-Genomics/test-datasets](https://github.com/Clinical-Genomics/test-datasets/tree/oncorefiner) [#8](https://github.com/Clinical-Genomics/oncorefiner/pull/8)
- Added CI checks for `Conventional PR title`, `Updated changelog` and `Add PR checklist comment` [#18](https://github.com/Clinical-Genomics/oncorefiner/pull/18)
- Added parameters documentation [#25](https://github.com/Clinical-Genomics/oncorefiner/pull/25)
- Added pre-commit hook for automatic generation of parameters documentation [#25](https://github.com/Clinical-Genomics/oncorefiner/pull/25)
- Added Nextflow strict syntax compatibility [#30](https://github.com/Clinical-Genomics/oncorefiner/pull/30)

### Changed

- Updated PR template, PR checklist, feature request template, bug report template and issue template chooser [#24](https://github.com/Clinical-Genomics/oncorefiner/pull/24)
- Updated nf-schema to 2.6.1 [#30](https://github.com/Clinical-Genomics/oncorefiner/pull/30)
- Updated minimum Nextflow version to 25.10.0 [#30](https://github.com/Clinical-Genomics/oncorefiner/pull/30)
- Added wgs-cancer-pipeline projects list in the issue templates [#37](https://github.com/Clinical-Genomics/oncorefiner/pull/37)
- [#1](https://github.com/Clinical-Genomics/oncorefiner/pull/1) Added Ensembl VEP annotation for SNV vcf file.
- [#2](https://github.com/Clinical-Genomics/oncorefiner/pull/2) Added VCFANNO annotation for SNV vcf file.
- [#3](https://github.com/Clinical-Genomics/oncorefiner/pull/3) Added filtering for SNV vcf file.
- [#4](https://github.com/Clinical-Genomics/oncorefiner/pull/4) Added annotation for SV vcf file.
- [#5](https://github.com/Clinical-Genomics/oncorefiner/pull/5) Added filtering for SV vcf file.
- [#8](https://github.com/Clinical-Genomics/oncorefiner/pull/8) Added small test profile. The related test dataset have been added as a branch called oncorefiner under [Clinical-Genomics/test-datasets](https://github.com/Clinical-Genomics/test-datasets/tree/oncorefiner).
- [#18](https://github.com/Clinical-Genomics/oncorefiner/pull/18) Added CI checks for `Conventional PR title`, `Updated changelog` and `Add PR checklist comment`.
- [#25](https://github.com/Clinical-Genomics/oncorefiner/pull/25) Added parameters documentation.
- [#25](https://github.com/Clinical-Genomics/oncorefiner/pull/25) Added pre-commit hook for automatic generation of parameters documentation.
- [#30](https://github.com/Clinical-Genomics/oncorefiner/pull/30) Added Nextflow strict syntax compatibility.

### `Changed`

- [#24](https://github.com/Clinical-Genomics/oncorefiner/pull/24) Updated PR template, PR checklist, feature request template, bug report template and issue template chooser.
- [#30](https://github.com/Clinical-Genomics/oncorefiner/pull/30) Updated nf-schema to 2.6.1.
- [#30](https://github.com/Clinical-Genomics/oncorefiner/pull/30) Updated minimum Nextflow version to 25.10.0.
- [#37](https://github.com/Clinical-Genomics/oncorefiner/pull/37) Added wgs-cancer-pipeline projects list in the issue templates.
- [#48](https://github.com/Clinical-Genomics/oncorefiner/pull/48) Updated documentation.

### `Fixed`

- Removed snv_vcf_tbi and sv_vcf_tbi parameter. VCF indexes are now automatically detected [#9](https://github.com/Clinical-Genomics/oncorefiner/pull/9)
- Renamed pipeline from postprocessing to oncorefiner []()
- Fixed linting issues [#20](https://github.com/Clinical-Genomics/oncorefiner/pull/20)
- Fixed nf-test to run a functional default test, and generated a snapshot [#26](https://github.com/Clinical-Genomics/oncorefiner/pull/26)
- Added missing description to bug_report.yml [32](https://github.com/Clinical-Genomics/oncorefiner/pull/32)
- Updated template settings to set organisation to `Clinical-Genomics` and skip unused features `igenomes` and `fastqc` [#35](https://github.com/Clinical-Genomics/oncorefiner/pull/35)
- Refactored `genome` parameter to have default value 'GRCh38' and no longer refer to igenomes [#35](https://github.com/Clinical-Genomics/oncorefiner/pull/35)
- Updated linting config to fix linting issues and re-added/removed checks for files where nf-core file structure is no longer required [#35](https://github.com/Clinical-Genomics/oncorefiner/pull/35)
- Updated template for nf-core/tools version 3.5.2 to apply updated settings and changes missed in previous template update ([14](https://github.com/Clinical-Genomics/oncorefiner/pull/14)) [#35](https://github.com/Clinical-Genomics/oncorefiner/pull/35)
- Fixed prepare_references config that was defined but not used [36](https://github.com/Clinical-Genomics/oncorefiner/pull/36)
- Fixed bug and formatting in feature request template [#39](https://github.com/Clinical-Genomics/oncorefiner/pull/39)
- Fixed merge mistake introduced in [#25](https://github.com/Clinical-Genomics/oncorefiner/pull/25) [#41](https://github.com/Clinical-Genomics/oncorefiner/pull/41)
- Added necessary GITHUB_TOKEN permissions for action add_pr_checklist_comment [#42](https://github.com/Clinical-Genomics/oncorefiner/pull/42)
- Updated all modules and removed deprecated `ch_versions` to implement latest nf-core changes that use the `versions` topic channel to collect software versions [#34](https://github.com/Clinical-Genomics/oncorefiner/pull/34)
- Fixed settings for `add_pr_checklist_comment` to allow action to run on a PR originated from a fork [#45](https://github.com/Clinical-Genomics/oncorefiner/pull/45)
- Added `species` parameter to provide information for annotation which was previously hardcoded [#49](https://github.com/Clinical-Genomics/oncorefiner/pull/49)
- [#9](https://github.com/Clinical-Genomics/oncorefiner/pull/9) Removed snv_vcf_tbi and sv_vcf_tbi parameter. VCF indexes are now automatically detected.
- [#10](https://github.com/Clinical-Genomics/oncorefiner/pull/10) Renamed pipeline from postprocessing to oncorefiner.
- [#20](https://github.com/Clinical-Genomics/oncorefiner/pull/20) Fixed linting issues.
- [#26](https://github.com/Clinical-Genomics/oncorefiner/pull/26) Fixed nf-test to run a functional default test, and generated a snapshot.
- [#32](https://github.com/Clinical-Genomics/oncorefiner/pull/32) Added missing description in bug report template.
- [#35](https://github.com/Clinical-Genomics/oncorefiner/pull/35) Updated template settings to set organisation to `Clinical-Genomics` and skip unused features `igenomes` and `fastqc`.
- [#35](https://github.com/Clinical-Genomics/oncorefiner/pull/35) Refactored `genome` parameter to have default value 'GRCh38' and no longer refer to igenomes.
- [#35](https://github.com/Clinical-Genomics/oncorefiner/pull/35) Updated linting config to fix linting issues and re-added/removed checks for files where nf-core file structure is no longer required.
- [#35](https://github.com/Clinical-Genomics/oncorefiner/pull/35) Updated template for nf-core/tools version 3.5.2 to apply updated settings and changes missed in previous template update ([#14](https://github.com/Clinical-Genomics/oncorefiner/pull/14)).
- [36](https://github.com/Clinical-Genomics/oncorefiner/pull/36) Fixed prepare_references config that was defined but not used.
- [#39](https://github.com/Clinical-Genomics/oncorefiner/pull/39) Fixed bug and formatting in feature request template.
- [#41](https://github.com/Clinical-Genomics/oncorefiner/pull/41) Fixed merge mistake in `.nf-core.yml` introduced in previous PR ([#25](https://github.com/Clinical-Genomics/oncorefiner/pull/25)).
- [#42](https://github.com/Clinical-Genomics/oncorefiner/pull/42) Added necessary GITHUB_TOKEN permissions for action add_pr_checklist_comment.
- [#34](https://github.com/Clinical-Genomics/oncorefiner/pull/34) Updated all modules and removed deprecated `ch_versions` to implement latest nf-core changes that use the `versions` topic channel to collect software versions.
- [#45](https://github.com/Clinical-Genomics/oncorefiner/pull/45) Fixed settings for `add_pr_checklist_comment` to allow action to run on a PR originated from a fork.
- [#49](https://github.com/Clinical-Genomics/oncorefiner/pull/49) Added `species` parameter to provide information for annotation which was previously hardcoded.

### `Dependencies`

### `Deprecated`

### `Removed`

- Removed CI checks `awstest` and `awsfulltest` [#18](https://github.com/Clinical-Genomics/oncorefiner/pull/18)
- [#18](https://github.com/Clinical-Genomics/oncorefiner/pull/18) Removed CI checks `awstest` and `awsfulltest`.
31 changes: 18 additions & 13 deletions README.md
Original file line number Diff line number Diff line change
@@ -1,5 +1,9 @@
# Clinical-Genomics/oncorefiner

<!-- TODO:
Add logo here.
-->

[![Open in GitHub Codespaces](https://img.shields.io/badge/Open_In_GitHub_Codespaces-black?labelColor=grey&logo=github)](https://github.com/codespaces/new/Clinical-Genomics/oncorefiner)
[![GitHub Actions CI Status](https://github.com/Clinical-Genomics/oncorefiner/actions/workflows/nf-test.yml/badge.svg)](https://github.com/Clinical-Genomics/oncorefiner/actions/workflows/nf-test.yml)
[![GitHub Actions Linting Status](https://github.com/Clinical-Genomics/oncorefiner/actions/workflows/linting.yml/badge.svg)](https://github.com/Clinical-Genomics/oncorefiner/actions/workflows/linting.yml)[![Cite with Zenodo](http://img.shields.io/badge/DOI-10.5281/zenodo.XXXXXXX-1073c8?labelColor=000000)](https://doi.org/10.5281/zenodo.XXXXXXX)
Expand All @@ -24,33 +28,28 @@

<!-- TODO nf-core: Include a figure that guides the user through the major workflow steps. Many nf-core
workflows use the "tube map" design for that. See https://nf-co.re/docs/guidelines/graphic_design/workflow_diagrams#examples for examples. -->
<!-- TODO nf-core: Fill in short bullet-pointed list of the default steps in the pipeline -->2. Present QC for raw reads ([`MultiQC`](http://multiqc.info/))
<!-- TODO nf-core: Fill in short bullet-pointed list of the default steps in the pipeline -->

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

## Usage

> [!NOTE]
> If you are new to Nextflow and nf-core, please refer to [this page](https://nf-co.re/docs/usage/installation) on how to set-up Nextflow. Make sure to [test your setup](https://nf-co.re/docs/usage/introduction#how-to-run-a-pipeline) with `-profile test` before running the workflow on actual data.

<!-- TODO nf-core: Describe the minimum required steps to execute the pipeline, e.g. how to prepare samplesheets.
Explain what rows and columns represent. For instance (please edit as appropriate):

First, prepare a samplesheet with your input data that looks as follows:

`samplesheet.csv`:

```csv
sample,fastq_1,fastq_2
CONTROL_REP1,AEG588A1_S1_L002_R1_001.fastq.gz,AEG588A1_S1_L002_R2_001.fastq.gz
SAMPLE_ID,SAMPLE_ID_S1_L002_R1_001.fastq.gz,SAMPLE_ID_S1_L002_R2_001.fastq.gz
```

Each row represents a fastq file (single-end) or a pair of fastq files (paired end).

-->
Each row represents a fastq file (single-end with only `fastq_1`) or a pair of fastq files (paired end with `fastq_1` and `fastq_2`).

Now, you can run the pipeline using:

<!-- TODO nf-core: update the following command to include all required parameters for a minimal example -->

```bash
nextflow run Clinical-Genomics/oncorefiner \
-profile <docker/singularity/.../institute> \
Expand All @@ -61,6 +60,8 @@ nextflow run Clinical-Genomics/oncorefiner \
> [!WARNING]
> Please provide pipeline parameters via the CLI or Nextflow `-params-file` option. Custom config files including those provided by the `-c` Nextflow option can be used to provide any configuration _**except for parameters**_; see [docs](https://nf-co.re/docs/usage/getting_started/configuration#custom-configuration-files).

For more details and further functionality, please refer to the [usage documentation](./docs/usage.md) and the [parameter documentation](./docs/parameters.md).

## Pipeline output

For more details about the output files and reports, please refer to the [output documentation](.github/docs/output.md).
Expand All @@ -69,7 +70,13 @@ For more details about the output files and reports, please refer to the [output

Clinical-Genomics/oncorefiner was originally written by Clinical Genomics Stockholm.

We thank the following people for their extensive assistance in the development of this pipeline: [Eva Caceres](https://github.com/fevac), [Kristine Bilgrav Sæther](https://github.com/kristinebilgrav)
We thank the following people for their extensive assistance in the development of this pipeline:

- [Eva Caceres](https://github.com/fevac)
- [Kristine Bilgrav Sæther](https://github.com/kristinebilgrav)
- [Beatriz Sá Vinhas](https://github.com/beatrizsavinhas)
- [Mathias Johansson](https://github.com/mathiasbio)
- [Felix Lenner](https://github.com/fellen31)

## Contributions and Support

Expand All @@ -80,8 +87,6 @@ If you would like to contribute to this pipeline, please see the [contributing g
<!-- 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 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.


An extensive list of references for the tools used by the pipeline can be found in the [`CITATIONS.md`](CITATIONS.md) file.

This pipeline uses code and infrastructure developed and maintained by the [nf-core](https://nf-co.re) community, reused here under the [MIT license](https://github.com/nf-core/tools/blob/main/LICENSE).
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