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Fix pipeline not running without --vep_cache #553

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Feb 17, 2025
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3 changes: 0 additions & 3 deletions .github/workflows/ci_master.yml
Original file line number Diff line number Diff line change
Expand Up @@ -18,9 +18,6 @@ on:
- synchronize
branches:
- master
pull_request_target:
branches:
- master

env:
NXF_ANSI_LOG: false
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8 changes: 4 additions & 4 deletions .nf-core.yml
Original file line number Diff line number Diff line change
@@ -1,4 +1,4 @@
bump_version: null
bump_version:
lint:
files_exist:
- CITATIONS.md
Expand Down Expand Up @@ -28,7 +28,7 @@ lint:
- manifest.name
- manifest.homePage
nf_core_version: 3.0.2
org_path: null
org_path:
repository_type: pipeline
template:
author: Felix Lenner
Expand All @@ -39,5 +39,5 @@ template:
org: genomic-medicine-sweden
outdir: .
skip_features: []
version: 0.4.0dev
update: null
version: 0.4.1dev
update:
7 changes: 7 additions & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -3,6 +3,13 @@
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).

## 0.4.1 - [2025-02-17]

### `Fixed`

- [#553](https://github.com/genomic-medicine-sweden/nallo/pull/553) - Fixed pipeline always requiring `--vep_cache` to run, and clarified documentation
- [#553](https://github.com/genomic-medicine-sweden/nallo/pull/553) - Fixed `process.shell` in `nextflow.config` causing CI runners to fail

## 0.4.0 - [2025-01-15]

### `Added`
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4 changes: 2 additions & 2 deletions assets/multiqc_config.yml
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
report_comment: >
This report has been generated by the <a href="https://github.com/genomic-medicine-sweden/nallo/releases/tag/0.4.0" target="_blank">genomic-medicine-sweden/nallo</a>
analysis pipeline.
This report has been generated by the <a href="https://github.com/genomic-medicine-sweden/nallo/releases/tag/0.4.1"
target="_blank">genomic-medicine-sweden/nallo</a> analysis pipeline.
report_section_order:
"genomic-medicine-sweden-nallo-methods-description":
order: -1000
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20 changes: 17 additions & 3 deletions docs/usage.md
Original file line number Diff line number Diff line change
Expand Up @@ -276,9 +276,12 @@ Turned off with `--skip_rank_variants`.

This subworkflow relies on the alignment subworkflow, and requires the following additional files:

| Parameter | Description |
| -------------------------------- | --------------------------------------------------------------------- |
| `svdb_sv_databases` <sup>1</sup> | Csv file with databases (VCFs) used for structural variant annotation |
| Parameter | Description |
| -------------------------------- | -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- |
| `svdb_sv_databases` <sup>1</sup> | Csv file with databases (VCFs) used for structural variant annotation |
| `vep_cache` | VEP cache matching your reference genome, either as a `.tar.gz` archive or path to a directory (e.g. [homo_sapiens_vep_110_GRCh38.tar.gz](https://ftp.ensembl.org/pub/release-110/variation/vep/homo_sapiens_vep_110_GRCh38.tar.gz)) |
| `vep_plugin_files` <sup>2</sup> | A csv file with VEP plugin files, pLI and LoFtool are required. Example provided below. |
| `variant_consequences_svs` | A list of SO terms listed in the order of severity from most severe to lease severe for annotating SVs. Sample file [here](https://github.com/nf-core/test-datasets/blob/raredisease/reference/variant_consequences_v2.txt). You can learn more about these terms [here](https://ensembl.org/info/genome/variation/prediction/predicted_data.html) |

<sup>1</sup> Example file for input with `--svdb_sv_databases`:

Expand All @@ -289,6 +292,17 @@ https://github.com/genomic-medicine-sweden/test-datasets/raw/b9ff54b59cdd39df5b6

These databases could for example come from [CoLoRSdb](https://zenodo.org/records/13145123).

<sup>2</sup> Example file for input with `--vep_plugin_files`

```
vep_files
https://raw.githubusercontent.com/genomic-medicine-sweden/test-datasets/nallo/reference/vep_plugins/spliceai_21_scores_raw_indel_-v1.3-.vcf.gz.tbi
https://raw.githubusercontent.com/genomic-medicine-sweden/test-datasets/nallo/reference/vep_plugins/spliceai_21_scores_raw_indel_-v1.3-.vcf.gz
https://raw.githubusercontent.com/genomic-medicine-sweden/test-datasets/nallo/reference/vep_plugins/spliceai_21_scores_raw_snv_-v1.3-.vcf.gz.tbi
https://raw.githubusercontent.com/genomic-medicine-sweden/test-datasets/nallo/reference/vep_plugins/pLI_values.txt
https://raw.githubusercontent.com/genomic-medicine-sweden/test-datasets/nallo/reference/vep_plugins/LoFtool_scores.txt
```

Turned off with `--skip_sv_annotation`.

### Rank SVs
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2 changes: 1 addition & 1 deletion modules.json
Original file line number Diff line number Diff line change
Expand Up @@ -13,7 +13,7 @@
},
"bcftools/concat": {
"branch": "master",
"git_sha": "d1e0ec7670fa77905a378627232566ce54c3c26d",
"git_sha": "81880787133db07d9b4c1febd152c090eb8325dc",
"installed_by": ["modules"]
},
"bcftools/index": {
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2 changes: 2 additions & 0 deletions modules/nf-core/bcftools/concat/environment.yml

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36 changes: 24 additions & 12 deletions modules/nf-core/bcftools/concat/main.nf

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11 changes: 4 additions & 7 deletions modules/nf-core/bcftools/concat/meta.yml

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