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1 change: 0 additions & 1 deletion .github/CONTRIBUTING.md
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Expand Up @@ -116,4 +116,3 @@ To get started:
Devcontainer specs:

- [DevContainer config](.devcontainer/devcontainer.json)
- [Dockerfile](.devcontainer/Dockerfile)
2 changes: 1 addition & 1 deletion .github/ISSUE_TEMPLATE/bug_report.yml
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Expand Up @@ -42,7 +42,7 @@ body:
attributes:
label: System information
description: |
* Nextflow version _(eg. 22.10.1)_
* Nextflow version _(eg. 23.04.0)_
* Hardware _(eg. HPC, Desktop, Cloud)_
* Executor _(eg. slurm, local, awsbatch)_
* Container engine: _(e.g. Docker, Singularity, Conda, Podman, Shifter, Charliecloud, or Apptainer)_
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8 changes: 6 additions & 2 deletions .github/workflows/awsfulltest.yml
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Expand Up @@ -15,19 +15,23 @@ jobs:
steps:
# Launch workflow using Tower CLI tool action
- name: Launch workflow via tower
uses: seqeralabs/action-tower-launch@v1
uses: seqeralabs/action-tower-launch@v2
with:
workspace_id: ${{ secrets.TOWER_WORKSPACE_ID }}
access_token: ${{ secrets.TOWER_ACCESS_TOKEN }}
compute_env: ${{ secrets.TOWER_COMPUTE_ENV }}
revision: ${{ github.sha }}
workdir: s3://${{ secrets.AWS_S3_BUCKET }}/work/sarek/work-${{ github.sha }}/somatic_test
parameters: |
{
"hook_url": "${{ secrets.MEGATESTS_ALERTS_SLACK_HOOK_URL }}",
"outdir": "s3://${{ secrets.AWS_S3_BUCKET }}/sarek/results-${{ github.sha }}/somatic_test"
}
profiles: test_full

- uses: actions/upload-artifact@v3
with:
name: Tower debug log file
path: tower_action_*.log
path: |
tower_action_*.log
tower_action_*.json
7 changes: 5 additions & 2 deletions .github/workflows/awstest.yml
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Expand Up @@ -12,11 +12,12 @@ jobs:
steps:
# Launch workflow using Tower CLI tool action
- name: Launch workflow via tower
uses: seqeralabs/action-tower-launch@v1
uses: seqeralabs/action-tower-launch@v2
with:
workspace_id: ${{ secrets.TOWER_WORKSPACE_ID }}
access_token: ${{ secrets.TOWER_ACCESS_TOKEN }}
compute_env: ${{ secrets.TOWER_COMPUTE_ENV }}
revision: ${{ github.sha }}
workdir: s3://${{ secrets.AWS_S3_BUCKET }}/work/sarek/work-${{ github.sha }}
parameters: |
{
Expand All @@ -26,4 +27,6 @@ jobs:
- uses: actions/upload-artifact@v3
with:
name: Tower debug log file
path: tower_action_*.log
path: |
tower_action_*.log
tower_action_*.json
17 changes: 16 additions & 1 deletion .github/workflows/pytest-workflow.yml
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Expand Up @@ -56,6 +56,8 @@ jobs:
# tags: validation_checks
# - profile: "conda"
# tags: vep
# - profile: "conda"
# tags: sentieon/bwamem
- profile: "singularity"
tags: concatenate_vcfs
- profile: "singularity"
Expand All @@ -65,6 +67,7 @@ jobs:
env:
NXF_ANSI_LOG: false
TEST_DATA_BASE: "${{ github.workspace }}/test-datasets"
SENTIEON_LICENSE_BASE64: ${{ secrets.SENTIEON_LICENSE_BASE64 }}
steps:
- name: Check out pipeline code
uses: actions/checkout@v3
Expand Down Expand Up @@ -111,7 +114,7 @@ jobs:
${{ runner.os }}-pip-
- name: Install Python dependencies
run: python -m pip install --upgrade pip pytest-workflow
run: python -m pip install --upgrade pip pytest-workflow cryptography

- uses: actions/cache@v3
with:
Expand Down Expand Up @@ -139,6 +142,18 @@ jobs:
channels: conda-forge,bioconda,defaults
python-version: ${{ matrix.python-version }}

# Set up secrets
- name: Set up nextflow secrets
if: env.SENTIEON_LICENSE_BASE64 != null
run: |
nextflow secrets set SENTIEON_LICENSE_BASE64 ${{ secrets.SENTIEON_LICENSE_BASE64 }}
nextflow secrets set SENTIEON_AUTH_MECH_BASE64 ${{ secrets.SENTIEON_AUTH_MECH_BASE64 }}
SENTIEON_ENCRYPTION_KEY=$(echo -n "${{ secrets.ENCRYPTION_KEY_BASE64 }}" | base64 -d)
SENTIEON_LICENSE_MESSAGE=$(echo -n "${{ secrets.LICENSE_MESSAGE_BASE64 }}" | base64 -d)
SENTIEON_AUTH_DATA=$(python bin/license_message.py encrypt --key "$SENTIEON_ENCRYPTION_KEY" --message "$SENTIEON_LICENSE_MESSAGE")
SENTIEON_AUTH_DATA_BASE64=$(echo -n "$SENTIEON_AUTH_DATA" | base64 -w 0)
nextflow secrets set SENTIEON_AUTH_DATA_BASE64 $SENTIEON_AUTH_DATA_BASE64
- name: Conda clean
if: matrix.profile == 'conda'
run: conda clean -a
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5 changes: 5 additions & 0 deletions .gitpod.yml
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@@ -1,4 +1,9 @@
image: nfcore/gitpod:latest
tasks:
- name: Update Nextflow and setup pre-commit
command: |
pre-commit install --install-hooks
nextflow self-update
vscode:
extensions: # based on nf-core.nf-core-extensionpack
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1 change: 1 addition & 0 deletions .nf-core.yml
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Expand Up @@ -11,4 +11,5 @@ lint:
- docs/images/nf-core-sarek_logo_light.png
- lib/NfcoreTemplate.groovy
- lib/NfcoreSchema.groovy
schema_params: False
template_strings: False
38 changes: 37 additions & 1 deletion CHANGELOG.md
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Expand Up @@ -5,6 +5,41 @@ All notable changes to this project will be documented in this file.
The format is based on [Keep a Changelog](https://keepachangelog.com/en/1.0.0/)
and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0.html).

## 3.3dev

### Added

- [#1130](https://github.com/nf-core/sarek/pull/1130) - Back to dev
- [#1013](https://github.com/nf-core/sarek/pull/1013) - Mutect2 multi sample mode with `--joint_mutect2`
- [#1153](https://github.com/nf-core/sarek/pull/1153) - Add input validation for Sentieon & FGBio UMI incompatibility
- [#1158](https://github.com/nf-core/sarek/pull/1158) - Add preprint
- [#1159](https://github.com/nf-core/sarek/pull/1159) - ISMB Poster

### Changed

- [#1151](https://github.com/nf-core/sarek/pull/1151) - Refactor codebase
- [#1157](https://github.com/nf-core/sarek/pull/1157) - Move all vep args from `ext.args` to `params.vep_custom_args` to allow easier modifications
- [#1059](https://github.com/nf-core/sarek/pull/1059) - Add `nf-validation` for samplesheet validation
- [#1160](https://github.com/nf-core/sarek/pull/1160) - Updating tiddit to v3.6.1
- [#1174](https://github.com/nf-core/sarek/pull/1174) - Updating multiqc to v1.15

### Fixed

- [#1143](https://github.com/nf-core/sarek/pull/1143) - `snpeff_db` is now a string
- [#1145](https://github.com/nf-core/sarek/pull/1145) - Fixed Zenodo links in `README.md` and in `WorkflowMain.groovy`
- [#1149](https://github.com/nf-core/sarek/pull/1149) - Update `Manta` modules and fix usage of `--exome` flag
- [#1155](https://github.com/nf-core/sarek/pull/1155) - Restore proper rendering in `usage.md`
- [#1163](https://github.com/nf-core/sarek/pull/1163) - Correcting location of output folder for joint variant calling with GATK's haplotypecaller
- [#1169](https://github.com/nf-core/sarek/pull/1169) - Updating Sentieon-modules. (The conda-check in the Sentieon-modules was moved to the script-section. The version of Sentieon remain unchanged.)
- [#1172](https://github.com/nf-core/sarek/pull/1172) - Publish gvcf files when all intervals are processed at once ([#764](https://github.com/nf-core/sarek/issues/764))

### Dependencies

| Dependency | Old version | New version |
| ---------- | ----------- | ----------- |
| `multiqc` | 1.14 | 1.15 |
| `tiddit` | 3.3.2 | 3.6.1 |

## [3.2.3](https://github.com/nf-core/sarek/releases/tag/3.2.3) - Gällivare

Gällivare is a small lake next to Pierikjaure.
Expand All @@ -13,6 +48,7 @@ Gällivare is a small lake next to Pierikjaure.

- [#1112](https://github.com/nf-core/sarek/pull/1112) - Back to dev
- [#1119](https://github.com/nf-core/sarek/pull/1119) - Added `help_text` for `input_output_options` group in schema
- [#1044](https://github.com/nf-core/sarek/pull/1044) - Adding support for several tools from Sentieon's DNAseq package. The standard fastq-to-vcf processing can now be done using Sentieon's DNAseq tools `ApplyVarCal`, `bwa mem`, `Dedup`, `GVCFtyper`, `Haplotyper`, `LocusCollector` and `VarCal`.

### Changed

Expand Down Expand Up @@ -1203,7 +1239,7 @@ Ruotes is one of the main massif in the Sarek National Park.
- [#607](https://github.com/SciLifeLab/Sarek/pull/607) - Update to `GATK4`
- [#608](https://github.com/SciLifeLab/Sarek/pull/608) - Update `Nextflow` required version
- [#616](https://github.com/SciLifeLab/Sarek/pull/616) - Update `CHANGELOG`
- [#617](https://github.com/SciLifeLab/Sarek/pull/617) - Replace deprecated `Nextflow ``$name` syntax with `withName`
- [#617](https://github.com/SciLifeLab/Sarek/pull/617) - Replace deprecated `Nextflow` `$name` syntax with `withName`

### Fixed

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6 changes: 5 additions & 1 deletion CITATIONS.md
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Expand Up @@ -62,6 +62,8 @@
- [FastQC](https://www.bioinformatics.babraham.ac.uk/projects/fastqc/)

> Andrews, S. (2010). FastQC: A Quality Control Tool for High Throughput Sequence Data [Online]. Available online https://www.bioinformatics.babraham.ac.uk/projects/fastqc/.
- [FGBio](https://github.com/fulcrumgenomics/fgbio)

- [FreeBayes](https://arxiv.org/abs/1207.3907)
Expand Down Expand Up @@ -94,7 +96,7 @@
- [MultiQC](https://pubmed.ncbi.nlm.nih.gov/27312411/)

> Ewels P, Magnusson M, Lundin S, Käller M. MultiQC: summarize analysis results for multiple tools and samples in a single report. Bioinformatics. 2016 Oct 1;32(19):3047-8. doi: 10.1093/bioinformatics/btw354. Epub 2016 Jun 16. PubMed PMID: 27312411. PubMed Central PMCID: PMC5039924.
> Ewels P, Magnusson M, Lundin S, Käller M. MultiQC: summarize analysis results for multiple tools and samples in a single report. Bioinformatics. 2016 Oct 1;32(19):3047-8. doi: 10.1093/bioinformatics/btw354. Epub 2016 Jun 16. PubMed PMID: 27312411; PubMed Central PMCID: PMC5039924.
- [PIGZ](https://zlib.net/pigz/)

Expand Down Expand Up @@ -164,6 +166,8 @@
- [Docker](https://dl.acm.org/doi/10.5555/2600239.2600241)

> Merkel, D. (2014). Docker: lightweight linux containers for consistent development and deployment. Linux Journal, 2014(239), 2. doi: 10.5555/2600239.2600241.
- [Singularity](https://pubmed.ncbi.nlm.nih.gov/28494014/)

> Kurtzer GM, Sochat V, Bauer MW. Singularity: Scientific containers for mobility of compute. PLoS One. 2017 May 11;12(5):e0177459. doi: 10.1371/journal.pone.0177459. eCollection 2017. PubMed PMID: 28494014; PubMed Central PMCID: PMC5426675.
37 changes: 21 additions & 16 deletions README.md
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Expand Up @@ -5,7 +5,7 @@
[![GitHub Actions CI Status](https://github.com/nf-core/sarek/workflows/nf-core%20CI/badge.svg)](https://github.com/nf-core/sarek/actions?query=workflow%3A%22nf-core+CI%22)
[![GitHub Actions Linting Status](https://github.com/nf-core/sarek/workflows/nf-core%20linting/badge.svg)](https://github.com/nf-core/sarek/actions?query=workflow%3A%22nf-core+linting%22)
[![AWS CI](https://img.shields.io/badge/CI%20tests-full%20size-FF9900?labelColor=000000&logo=Amazon%20AWS)](https://nf-co.re/sarek/results)
[![Cite with Zenodo](http://img.shields.io/badge/DOI-10.5281/zenodo.3476426-1073c8?labelColor=000000)](https://doi.org/10.5281/zenodo.3476425)
[![Cite with Zenodo](http://img.shields.io/badge/DOI-10.5281/zenodo.3476425-1073c8?labelColor=000000)](https://doi.org/10.5281/zenodo.3476425)

[![Nextflow](https://img.shields.io/badge/nextflow%20DSL2-%E2%89%A523.04.0-23aa62.svg)](https://www.nextflow.io/)
[![run with conda](http://img.shields.io/badge/run%20with-conda-3EB049?labelColor=000000&logo=anaconda)](https://docs.conda.io/en/latest/)
Expand Down Expand Up @@ -34,23 +34,24 @@ It's listed on [Elixir - Tools and Data Services Registry](https://bio.tools/nf-
Depending on the options and samples provided, the pipeline can currently perform the following:

- Form consensus reads from UMI sequences (`fgbio`)
- Sequencing quality control and trimming (`FastQC`, `fastp`)
- Map Reads to Reference (`BWA-mem` or `BWA-mem2` or `dragmap`)
- Process BAM file (`GATK MarkDuplicates`, `GATK BaseRecalibrator`, `GATK ApplyBQSR`)
- Sequencing quality control and trimming (enabled by `--trim_fastq`) (`FastQC`, `fastp`)
- Map Reads to Reference (`BWA-mem`, `BWA-mem2`, `dragmap` or `Sentieon BWA-mem`)
- Process BAM file (`GATK MarkDuplicates`, `GATK BaseRecalibrator` and `GATK ApplyBQSR` or `Sentieon LocusCollector` and `Sentieon Dedup`)
- Summarise alignment statistics (`samtools stats`, `mosdepth`)
- Variant calling (enabled by `--tools`, see [compatibility](https://github.com/nf-core/sarek/blob/master/docs/usage.md#which-variant-calling-tool-is-implemented-for-which-data-type)):
- `HaplotypeCaller`
- Variant calling (enabled by `--tools`, see [compatibility](#which-variant-calling-tool-is-implemented-for-which-data-type)):
- `ASCAT`
- `CNVkit`
- `Control-FREEC`
- `DeepVariant`
- `freebayes`
- `GATK HaplotypeCaller`
- `Manta`
- `mpileup`
- `Strelka2`
- `DeepVariant`
- `MSIsensor-pro`
- `Mutect2`
- `Manta`
- `Sentieon Haplotyper`
- `Strelka2`
- `TIDDIT`
- `ASCAT`
- `Control-FREEC`
- `CNVkit`
- `MSIsensor-pro`
- Variant filtering and annotation (`SnpEff`, `Ensembl VEP`)
- Summarise and represent QC (`MultiQC`)

Expand Down Expand Up @@ -94,11 +95,11 @@ See [usage docs](https://nf-co.re/sarek/usage) for all of the available options
> provided by the `-c` Nextflow option can be used to provide any configuration _**except for parameters**_;
> see [docs](https://nf-co.re/usage/configuration#custom-configuration-files).
For more details, please refer to the [usage documentation](https://nf-co.re/sarek/usage) and the [parameter documentation](https://nf-co.re/sarek/parameters).
For more details and further functionality, please refer to the [usage documentation](https://nf-co.re/sarek/usage) and the [parameter documentation](https://nf-co.re/sarek/parameters).

## Pipeline output

To see the the results of a test run with a full size dataset refer to the [results](https://nf-co.re/sarek/results) tab on the nf-core website pipeline page.
To see the results of an example test run with a full size dataset refer to the [results](https://nf-co.re/sarek/results) tab on the nf-core website pipeline page.
For more details about the output files and reports, please refer to the
[output documentation](https://nf-co.re/sarek/output).

Expand All @@ -123,6 +124,7 @@ We thank the following people for their extensive assistance in the development
- [Adrian Lärkeryd](https://github.com/adrlar)
- [Alexander Peltzer](https://github.com/apeltzer)
- [Anders Sune Pedersen](https://github.com/asp8200)
- [Bekir Ergüner](https://github.com/berguner)
- [Chela James](https://github.com/chelauk)
- [David Mas-Ponte](https://github.com/davidmasp)
- [Francesco Lescai](https://github.com/lescai)
Expand All @@ -133,6 +135,7 @@ We thank the following people for their extensive assistance in the development
- [Jesper Eisfeldt](https://github.com/J35P312)
- [Johannes Alneberg](https://github.com/alneberg)
- [José Fernández Navarro](https://github.com/jfnavarro)
- [Júlia Mir Pedrol](https://github.com/mirpedrol)
- [Lasse Westergaard Folkersen](https://github.com/lassefolkersen)
- [Lucia Conde](https://github.com/lconde-ucl)
- [Malin Larsson](https://github.com/malinlarsson)
Expand Down Expand Up @@ -177,9 +180,11 @@ For further information or help, don't hesitate to get in touch on the [Slack `#

If you use `nf-core/sarek` for your analysis, please cite the `Sarek` article as follows:

> Friederike Hanssen, Maxime U Garcia, Lasse Folkersen, Anders Sune Pedersen, Francesco Lescai, Susanne Jodoin, Edmund Miller, Oskar Wacker, Nicholas Smith, nf-core community, Gisela Gabernet, Sven Nahnsen **Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery** _bioRxiv_ [doi: 10.1101/2023.07.19.549462](https://doi.org/10.1101/2023.07.19.549462).
> Garcia M, Juhos S, Larsson M et al. **Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants [version 2; peer review: 2 approved]** _F1000Research_ 2020, 9:63 [doi: 10.12688/f1000research.16665.2](http://dx.doi.org/10.12688/f1000research.16665.2).
You can cite the sarek zenodo record for a specific version using the following [doi: 10.5281/zenodo.3476425](https://zenodo.org/badge/latestdoi/3476425)
You can cite the sarek zenodo record for a specific version using the following [doi: 10.5281/zenodo.3476425](https://doi.org/10.5281/zenodo.3476425)

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

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10 changes: 7 additions & 3 deletions assets/methods_description_template.yml
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Expand Up @@ -5,13 +5,17 @@ section_href: "https://github.com/nf-core/sarek"
plot_type: "html"
data: |
<h4>Methods</h4>
<p>Data was processed using nf-core/sarek v${workflow.manifest.version} ${doi_text} of the nf-core collection of workflows (<a href="https://doi.org/10.1038/s41587-020-0439-x">Ewels <em>et al.</em>, 2020</a>).</p>
<p>Data was processed using nf-core/sarek v${workflow.manifest.version} ${doi_text} of the nf-core collection of workflows (<a href="https://doi.org/10.1038/s41587-020-0439-x">Ewels <em>et al.</em>, 2020</a>), utilising reproducible software environments from the Bioconda (<a href="https://doi.org/10.1038/s41592-018-0046-7">Grüning <em>et al.</em>, 2018</a>) and Biocontainers (<a href="https://doi.org/10.1093/bioinformatics/btx192">da Veiga Leprevost <em>et al.</em>, 2017</a>) projects.</p>
<p>The pipeline was executed with Nextflow v${workflow.nextflow.version} (<a href="https://doi.org/10.1038/nbt.3820">Di Tommaso <em>et al.</em>, 2017</a>) with the following command:</p>
<pre><code>${workflow.commandLine}</code></pre>
<p>${tool_citations}</p>
<h4>References</h4>
<ul>
<li>Di Tommaso, P., Chatzou, M., Floden, E. W., Barja, P. P., Palumbo, E., & Notredame, C. (2017). Nextflow enables reproducible computational workflows. Nature Biotechnology, 35(4), 316-319. <a href="https://doi.org/10.1038/nbt.3820">https://doi.org/10.1038/nbt.3820</a></li>
<li>Ewels, P. A., Peltzer, A., Fillinger, S., Patel, H., Alneberg, J., Wilm, A., Garcia, M. U., Di Tommaso, P., & Nahnsen, S. (2020). The nf-core framework for community-curated bioinformatics pipelines. Nature Biotechnology, 38(3), 276-278. <a href="https://doi.org/10.1038/s41587-020-0439-x">https://doi.org/10.1038/s41587-020-0439-x</a></li>
<li>Di Tommaso, P., Chatzou, M., Floden, E. W., Barja, P. P., Palumbo, E., & Notredame, C. (2017). Nextflow enables reproducible computational workflows. Nature Biotechnology, 35(4), 316-319. doi: <a href="https://doi.org/10.1038/nbt.3820">10.1038/nbt.3820</a></li>
<li>Ewels, P. A., Peltzer, A., Fillinger, S., Patel, H., Alneberg, J., Wilm, A., Garcia, M. U., Di Tommaso, P., & Nahnsen, S. (2020). The nf-core framework for community-curated bioinformatics pipelines. Nature Biotechnology, 38(3), 276-278. doi: <a href="https://doi.org/10.1038/s41587-020-0439-x">10.1038/s41587-020-0439-x</a></li>
<li>Grüning, B., Dale, R., Sjödin, A., Chapman, B. A., Rowe, J., Tomkins-Tinch, C. H., Valieris, R., Köster, J., & Bioconda Team. (2018). Bioconda: sustainable and comprehensive software distribution for the life sciences. Nature Methods, 15(7), 475–476. doi: <a href="https://doi.org/10.1038/s41592-018-0046-7">10.1038/s41592-018-0046-7</a></li>
<li>da Veiga Leprevost, F., Grüning, B. A., Alves Aflitos, S., Röst, H. L., Uszkoreit, J., Barsnes, H., Vaudel, M., Moreno, P., Gatto, L., Weber, J., Bai, M., Jimenez, R. C., Sachsenberg, T., Pfeuffer, J., Vera Alvarez, R., Griss, J., Nesvizhskii, A. I., & Perez-Riverol, Y. (2017). BioContainers: an open-source and community-driven framework for software standardization. Bioinformatics (Oxford, England), 33(16), 2580–2582. doi: <a href="https://doi.org/10.1093/bioinformatics/btx192">10.1093/bioinformatics/btx192</a></li>
${tool_bibliography}
</ul>
<div class="alert alert-info">
<h5>Notes:</h5>
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