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Merge pull request nf-core#512 from genomic-medicine-sweden/rhocall_viz
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Add rhocall viz
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ramprasadn authored Feb 8, 2024
2 parents e8ac075 + 8178f32 commit c2237fe
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Showing 19 changed files with 381 additions and 16 deletions.
2 changes: 1 addition & 1 deletion conf/modules/annotate_mobile_elements.config
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Expand Up @@ -54,7 +54,7 @@ process {

withName: '.*ANNOTATE_MOBILE_ELEMENTS:BCFTOOLS_VIEW_FILTER' {
// extend filter with arguments such as --exclude 'INFO/swegen_sva_FRQ > 0.1'
ext.args = { "--apply-filters PASS" }
ext.args = { "--apply-filters PASS --output-type z" }
ext.prefix = { "${meta.id}_filter" }
}

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54 changes: 54 additions & 0 deletions conf/modules/annotate_rhocallviz.config
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@@ -0,0 +1,54 @@
/*
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
Config file for defining DSL2 per module options and publishing paths
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
Available keys to override module options:
ext.args = Additional arguments appended to command in module.
ext.args2 = Second set of arguments appended to command in module (multi-tool modules).
ext.args3 = Third set of arguments appended to command in module (multi-tool modules).
ext.prefix = File name prefix for output files.
ext.when = Conditional clause
----------------------------------------------------------------------------------------
*/

//
// rhocall viz options
//

process {

withName: '.*ANNOTATE_GENOME_SNVS:ANNOTATE_RHOCALLVIZ:BCFTOOLS_VIEW' {
ext.prefix = { "${meta.sample}" }
ext.args = { "--output-type z --min-ac 1 --samples ${meta.sample}" }
}

withName: '.*ANNOTATE_GENOME_SNVS:ANNOTATE_RHOCALLVIZ:BCFTOOLS_ROH' {
ext.prefix = { "${meta.sample}" }
ext.args = { "--AF-tag GNOMADAF --skip-indels" }
}

withName: '.*ANNOTATE_GENOME_SNVS:ANNOTATE_RHOCALLVIZ:BCFTOOLS_VIEW_UNCOMPRESS' {
ext.prefix = { "${meta.sample}" }
ext.args = { "--output-type v" }
}

withName: '.*ANNOTATE_GENOME_SNVS:ANNOTATE_RHOCALLVIZ:RHOCALL_VIZ' {
ext.prefix = { "${meta.sample}_rhocallviz" }
ext.args = { "--aftag GNOMADAF --wig" }
publishDir = [
path: { "${params.outdir}/annotate_snv/genome" },
mode: params.publish_dir_mode,
saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
]
}

withName: '.*ANNOTATE_GENOME_SNVS:ANNOTATE_RHOCALLVIZ:UCSC_WIGTOBIGWIG' {
ext.prefix = { "${meta.sample}_rhocallviz" }
ext.args = { "-clip" }
publishDir = [
path: { "${params.outdir}/annotate_snv/genome/${meta.sample}_rhocallviz" },
mode: params.publish_dir_mode,
saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
]
}
}
14 changes: 14 additions & 0 deletions docs/output.md
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Expand Up @@ -52,6 +52,7 @@ The pipeline is built using [Nextflow](https://www.nextflow.io/) and processes d
- [VEP](#vep)
- [UPD](#upd)
- [Chromograph](#chromograph)
- [Rhocall viz](#rhocall-viz)
- [Annotation - SV](#annotation---sv)
- [SVDB query](#svdb-query)
- [VEP](#vep-1)
Expand Down Expand Up @@ -403,6 +404,19 @@ Based on VEP annotations, custom scripts used by the pipeline further annotate e

</details>

#### Rhocall viz

[Rhocall viz](https://github.com/dnil/rhocall) plots binned zygosity and RHO-regions.

<details markdown="1">
<summary>Output files</summary>

- `annotate_snv/genome/<sample_id>_rhocallviz/<sample_id>_rhocallviz.bed`: file containing regions of homozygosity in bed format.
- `annotate_snv/genome/<sample_id>_rhocallviz/<sample_id>_rhocallviz.wig`: file containing the fraction of homozygous SNPs in wig format.
- `annotate_snv/genome/<sample_id>_rhocallviz/<sample_id>_rhocallviz.bw`: file containing the fraction of homozygous SNPs in bigwig format.

</details>

### Annotation - SV

#### SVDB query
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7 changes: 6 additions & 1 deletion modules.json
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Expand Up @@ -47,7 +47,7 @@
},
"bcftools/view": {
"branch": "master",
"git_sha": "44096c08ffdbc694f5f92ae174ea0f7ba0f37e09",
"git_sha": "1013101da4252623fd7acf19cc581bae91d4f839",
"installed_by": ["modules"]
},
"bedtools/genomecov": {
Expand Down Expand Up @@ -358,6 +358,11 @@
"git_sha": "3f5420aa22e00bd030a2556dfdffc9e164ec0ec5",
"installed_by": ["modules"]
},
"rhocall/viz": {
"branch": "master",
"git_sha": "1013101da4252623fd7acf19cc581bae91d4f839",
"installed_by": ["modules"]
},
"rtgtools/format": {
"branch": "master",
"git_sha": "3f5420aa22e00bd030a2556dfdffc9e164ec0ec5",
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19 changes: 15 additions & 4 deletions modules/nf-core/bcftools/view/main.nf

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2 changes: 1 addition & 1 deletion modules/nf-core/bcftools/view/meta.yml

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12 changes: 6 additions & 6 deletions modules/nf-core/bcftools/view/tests/main.nf.test.snap

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4 changes: 2 additions & 2 deletions modules/nf-core/bcftools/view/tests/nextflow.config

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7 changes: 7 additions & 0 deletions modules/nf-core/rhocall/viz/environment.yml

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54 changes: 54 additions & 0 deletions modules/nf-core/rhocall/viz/main.nf

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52 changes: 52 additions & 0 deletions modules/nf-core/rhocall/viz/meta.yml

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54 changes: 54 additions & 0 deletions modules/nf-core/rhocall/viz/tests/main.nf.test

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