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Lucpen authored Aug 26, 2024
1 parent 20580e5 commit 20f9d4b
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18 changes: 11 additions & 7 deletions docs/usage.md
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Expand Up @@ -196,17 +196,21 @@ The mandatory and optional parameters for each category are tabulated below.

#### 5. SNV annotation (ensembl VEP)

| Mandatory | Optional |
| --------- | ----------------------------- |
| | skip_vep<sup>1</sup> |
| | vep_plugin_files<sup>2</sup> |
| | vep_cache<sup>2</sup> |
| | vep_cache_version<sup>3</sup> |
| | gene_panel_clinical_filter |
| Mandatory | Optional |
| --------- | -------------------------------- |
| | skip_vep<sup>1</sup> |
| | vep_plugin_files<sup>2</sup> |
| | vep_cache<sup>2</sup> |
| | vep_cache_version<sup>3</sup> |
| | skip_download_vep<sup>4</sup> |
| | skip_download_gnomad<sup>4</sup> |
| | vep_refs_download |
| | gene_panel_clinical_filter |

<sup>1</sup> If it is not provided by the user, the default value is false<br />
<sup>2</sup> VEP cache and plugins can be automatically downloaded by the pipeline by setting `--skip_download_vep false`, `--skip_download_gnomad false` and providing a lcsv with a list of files to download `--vep_refs_download` as done [here](https://github.com/genomic-medicine-sweden/tomte/blob/dev/test_data/vep_to_download.csv). VEP caches can also be downloaded [here](https://www.ensembl.org/info/docs/tools/vep/script/vep_cache.html#cache). VEP plugins may also be installed in the cache directory, and the plugin pLI is mandatory to install. To supply files required by VEP plugins, use `vep_plugin_files` parameter. See example cache [here](https://raw.githubusercontent.com/nf-core/test-datasets/raredisease/reference/vep_cache_and_plugins.tar.gz).<br />
<sup>3</sup> If it is not provided by the user, the default value is 110, supported values are 107 and 110
<sup>4</sup> If it is not provided by the user, the default value true

#### 6. Stringtie & gffcompare

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4 changes: 2 additions & 2 deletions modules/local/vep_gnomad_download.nf
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Expand Up @@ -43,8 +43,8 @@ process VEP_GNOMAD_DOWNLOAD {
cat <<-END_VERSIONS > versions.yml
"${task.process}":
wget: \$(echo wget -V 2>&1 | grep "GNU Wget" | cut -d" " -f3 > versions.yml)
bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//')
tabix: \$(echo \$(tabix -h 2>&1) | sed 's/^.*Version: //; s/ .*\$//')
bcftools: \$(bcftools --version 2>&1 | head -n1 | sed 's/^.*bcftools //; s/ .*\$//')
tabix: \$(echo \$(tabix -h 2>&1) | sed 's/^.*Version: //; s/ .*\$//')
END_VERSIONS
"""

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6 changes: 6 additions & 0 deletions nextflow_schema.json
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Expand Up @@ -233,6 +233,7 @@
},
"skip_downsample": {
"type": "boolean",
"default": false,
"description": "Skip downsampling before expression/splicing analysis. The number of reads to be used is defined by num_reads.",
"fa_icon": "fas fa-toggle-off"
},
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},
"skip_build_tracks": {
"type": "boolean",
"default": false,
"description": "Skip building splice junction tracks for IGV.",
"fa_icon": "fas fa-toggle-off"
},
"skip_stringtie": {
"type": "boolean",
"default": false,
"description": "Skip analysis with StringTie",
"fa_icon": "fas fa-toggle-off"
},
"skip_vep": {
"type": "boolean",
"default": false,
"description": "Skip Ensembl Variant Effect Predictor",
"fa_icon": "fas fa-toggle-off"
},
"skip_drop_ae": {
"type": "boolean",
"default": false,
"description": "Skip DROP Aberrant Expression module ",
"fa_icon": "fas fa-toggle-off"
},
"skip_drop_as": {
"type": "boolean",
"default": false,
"description": "Skip DROP Aberrant Splicing module",
"fa_icon": "fas fa-toggle-off"
},
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