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Merge branch 'dev' into remove-extra-gvcfs
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fellen31 authored Jul 1, 2024
2 parents d5114d3 + 18d1eb0 commit db25100
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11 changes: 8 additions & 3 deletions CHANGELOG.md
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Expand Up @@ -8,6 +8,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
### `Added`

- [#230](https://github.com/genomic-medicine-sweden/nallo/pull/230) - Added nf-test to the short variant calling workflow
- [#234](https://github.com/genomic-medicine-sweden/nallo/pull/234) - Added a `--deepvariant_model_type` parameter to override the model type set by `--preset`

### `Changed`

Expand All @@ -20,9 +21,13 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0

### `Fixed`

| Old parameter | New parameter |
| --------------- | ------------- |
| `--extra_gvcfs` | |
### Parameters

| Old parameter | New parameter |
| --------------- | -------------------------- |
| | `--deepvariant_model_type` |
| `--extra_gvcfs` | |


## v0.2.0 - [2024-06-26]

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17 changes: 5 additions & 12 deletions conf/modules/short_variant_calling.config
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Expand Up @@ -27,18 +27,11 @@ process {
withName: '.*:SHORT_VARIANT_CALLING:DEEPVARIANT' {
ext.prefix = { intervals ? "${meta.id}_${intervals}_deepvariant" : "${meta.id}_deepvariant" }

if(params.preset.matches('revio|pacbio')) {
ext.args = { [
"--sample_name=${meta.id}",
'--model_type=PACBIO',
].join(' ') }

} else if(params.preset.matches('ONT_R10')) {
ext.args = { [
"--sample_name=${meta.id}",
'--model_type=ONT_R104',
].join(' ') }
}
ext.args = { [
"--sample_name=${meta.id}",
"--model_type=${params.deepvariant_model_type}",
].join(' ') }

}

withName: '.*:SHORT_VARIANT_CALLING:GLNEXUS' {
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1 change: 1 addition & 0 deletions nextflow.config
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Expand Up @@ -22,6 +22,7 @@ params {
hificnv_xx = null
hificnv_exclude = null
somalier_sites = null
deepvariant_model_type = params.preset == 'ONT_R10' ? 'ONT_R104' : 'PACBIO'

// Skip parts of the workflow
skip_raw_read_qc = false
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7 changes: 7 additions & 0 deletions nextflow_schema.json
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Expand Up @@ -368,6 +368,13 @@
"type": "integer",
"default": 110,
"description": "VEP cache version"
},
"deepvariant_model_type": {
"type": "string",
"default": "PACBIO",
"description": "Sets the model type for DeepVariant",
"hidden": true,
"enum": ["PACBIO", "ONT_R104"]
}
},
"required": ["preset"]
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