Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

add params for dbnsfp vep plugin + fix filenames for vep plugins #613

Merged
merged 19 commits into from
Jul 7, 2022
Merged
Show file tree
Hide file tree
Changes from 4 commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
3 changes: 3 additions & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -34,6 +34,8 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [#597](https://github.com/nf-core/sarek/pull/597) - Added tiddit for tumor variant calling
- [#600](https://github.com/nf-core/sarek/pull/600) - Added description for UMI related params in schema
- [#604](https://github.com/nf-core/sarek/pull/604) - Added full size tests WGS 30x NA12878
- [#613](https://github.com/nf-core/sarek/pull/613) - Added params `--dbnsfp_fields` to allow configuration of fields for the `dbnsfp` `VEP` plugin
- [#613](https://github.com/nf-core/sarek/pull/613) - Added params `--dbnsfp_consequence` to allow configuration of consequence for the `dbnsfp` `VEP` plugin

### Changed

Expand Down Expand Up @@ -107,6 +109,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [#600](https://github.com/nf-core/sarek/pull/600) - Remove `nf-core lint` warnings
- [#602](https://github.com/nf-core/sarek/pull/602) - Fixed bug in `alignment_to_fastq` and added tests
- [#609](https://github.com/nf-core/sarek/pull/609) - Remove unused intervals code, reorganize combined intervals file
- [#613](https://github.com/nf-core/sarek/pull/613) - Fixed filenames for `dbnsfp` and `SpliceAI` `VEP` plugin

### Deprecated

Expand Down
11 changes: 6 additions & 5 deletions conf/modules.config
Original file line number Diff line number Diff line change
Expand Up @@ -1151,11 +1151,12 @@ process{
ext.prefix = { "${vcf.baseName.minus(".vcf")}_VEP" }
ext.args = [
'--everything --filter_common --per_gene --total_length --offline --format vcf',
(params.vep_dbnsfp && params.dbnsfp) ? '--plugin dbNSFP,dbNSFP.gz,rs_dbSNP,HGVSc_VEP,HGVSp_VEP,1000Gp3_EAS_AF,1000Gp3_AMR_AF,LRT_score,GERP++_RS,gnomAD_exomes_AF' : '',
(params.vep_loftee) ? '--plugin LoF,loftee_path:/opt/conda/envs/nf-core-vep-104.3/share/ensembl-vep-104.3-0' : '',
(params.vep_spliceai && params.spliceai_snv && params.spliceai_indel) ? '--plugin SpliceAI,snv=spliceai_scores.raw.snv.hg38.vcf.gz,indel=spliceai_scores.raw.indel.hg38.vcf.gz' : '',
(params.vep_spliceregion) ? '--plugin SpliceRegion' : '',
(params.vep_out_format) ? "--${params.vep_out_format}" : '--vcf'
(params.vep_dbnsfp && params.dbnsfp && !params.dbnsfp_consequence) ? "--plugin dbNSFP,${params.dbnsfp.split("/")[-1]},${params.dbnsfp_fields}" : '',
(params.vep_dbnsfp && params.dbnsfp && params.dbnsfp_consequence) ? "--plugin dbNSFP,'${params.dbnsfp_consequence}',${params.dbnsfp.split("/")[-1]},${params.dbnsfp_fields}" : '',
(params.vep_loftee) ? '--plugin LoF,loftee_path:/opt/conda/envs/nf-core-vep-104.3/share/ensembl-vep-104.3-0' : '',
(params.vep_spliceai && params.spliceai_snv && params.spliceai_indel) ? "--plugin SpliceAI,snv=${params.spliceai_snv.split("/")[-1]},${params.spliceai_indel.split("/")[-1]}" : '',
(params.vep_spliceregion) ? '--plugin SpliceRegion' : '',
(params.vep_out_format) ? "--${params.vep_out_format}" : '--vcf'
].join(' ').trim()
if (!params.vep_cache) container = { params.vep_genome ? "nfcore/vep:104.3.${params.vep_genome}" : "nfcore/vep:104.3.${params.genome}" }
publishDir = [
Expand Down
2 changes: 2 additions & 0 deletions nextflow.config
Original file line number Diff line number Diff line change
Expand Up @@ -72,6 +72,8 @@ params {
vep_dbnsfp = null // dbnsfp plugin disabled within VEP
dbnsfp = null // No dbnsfp processed file
dbnsfp_tbi = null // No dbnsfp processed file index
dbnsfp_consequence = null // No default consequence for dbnsfp plugin
dbnsfp_fields = "rs_dbSNP,HGVSc_VEP,HGVSp_VEP,1000Gp3_EAS_AF,1000Gp3_AMR_AF,LRT_score,GERP++_RS,gnomAD_exomes_AF" // Default fields for dbnsfp plugin
vep_loftee = null // loftee plugin disabled within VEP
vep_spliceai = null // spliceai plugin disabled within VEP
spliceai_snv = null // No spliceai_snv file
Expand Down
14 changes: 14 additions & 0 deletions nextflow_schema.json
Original file line number Diff line number Diff line change
Expand Up @@ -335,6 +335,20 @@
"help_text": "To be used with `--vep_dbnsfp`.",
"hidden": true
},
"dbnsfp_consequence": {
"type": "string",
"fa_icon": "fas fa-database",
"description": "Consequence to annotate with",
maxulysse marked this conversation as resolved.
Show resolved Hide resolved
"help_text": "To be used with `--vep_dbnsfp`.",
"hidden": true
},
"dbnsfp_fields": {
"type": "string",
"fa_icon": "fas fa-database",
"description": "Fields to annotate with",
maxulysse marked this conversation as resolved.
Show resolved Hide resolved
"help_text": "To be used with `--vep_dbnsfp`.",
"hidden": true
},
"vep_loftee": {
"type": "boolean",
"fa_icon": "fas fa-database",
Expand Down