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Using GATKs mergeVcfs #571

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Jun 3, 2022
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2c10752
WIP: Replace CONCAT_VCFs with GATKs MergeVcfs. With this first commit…
asp8200 May 28, 2022
2a8e870
Nextflow module/process for GATKs MergeVcfs.
asp8200 May 28, 2022
56de5c7
Using the nf-core module with GATK's mergeVcfs.
asp8200 May 28, 2022
a7716a3
Removing redundant home-brewed nextflow-module with GATK's mergeVcfs.
asp8200 May 28, 2022
767d99c
Using GATKs mergeVcfs for mutect2 in somatic variant calling.
asp8200 May 28, 2022
f8d857c
Using GATKs mergeVcfs for freeBayes vcfs.
asp8200 May 28, 2022
58fa570
Using GATKs mergeVcfs for deepvariant.
asp8200 May 28, 2022
4c7bb2f
Removing redundant calls to BGZIP_VC in deepvariant module.
asp8200 May 28, 2022
fe5d815
Fixing legacy in tumor_normal_somatic_variant_calling
asp8200 May 29, 2022
9f6b541
Using mergeVcfs for Haplotypecaller
asp8200 May 30, 2022
8e54a72
Adding tbi-file to the output from GATK4_MERGEVCFS. This change shoul…
asp8200 May 30, 2022
cd50a8d
Merge commit '6cf0b1284eb09cf4774111cb7db4296ce7d74d47' into merge_vcfs
asp8200 May 30, 2022
76d7abf
Using GATKs MergeVcfs for VCF-files from Manta
asp8200 May 30, 2022
8afe980
Using GATK4_MERGEVCFS for STRELKA_SNVS and STRELKA_INDELS. Clean up.
asp8200 May 31, 2022
f36bf8e
Removing legacy configuration of CONCAT_
asp8200 May 31, 2022
85a1f07
Removing the module CONCAT_VCF and the corresponding bash-script
asp8200 May 31, 2022
ef32494
prettier
asp8200 May 31, 2022
9523461
Removing tabix/bgzip from modules.json
asp8200 May 31, 2022
a125ead
Sorting vcf-files from freebayes. (Needed for running mergeVcfs.)
asp8200 Jun 1, 2022
f6ce15b
Simplifying code to only use one vcf-sort-operation
asp8200 Jun 2, 2022
ceaa36e
Updating git-sha for gatk4/mergevcfs
asp8200 Jun 2, 2022
658c21b
Removing redundant tabix/bgzip-module
asp8200 Jun 2, 2022
52ed964
Fixig some indentation
asp8200 Jun 2, 2022
5dfef56
Updating CHANGELOG and README
asp8200 Jun 2, 2022
11d42af
moving changelog-entry
asp8200 Jun 3, 2022
2b7c490
Merge branch 'dev' into merge_vcfs
maxulysse Jun 3, 2022
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1 change: 1 addition & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -53,6 +53,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [#544](https://github.com/nf-core/sarek/pull/544) - `Mutect2` is no longer compatible with `--no_intervals`
- [#551](https://github.com/nf-core/sarek/pull/551) - Sync `TEMPLATE` with `tools` `2.4`
- [#563](https://github.com/nf-core/sarek/pull/563) - Updated subway map
- [#571](https://github.com/nf-core/sarek/pull/571) - Including and using GATK4's mergeVcfs. Removing the local module `concat_vcf`.
- [#572](https://github.com/nf-core/sarek/pull/572) - Adjusted subway map svg for firefox compatibility

### Fixed
Expand Down
1 change: 1 addition & 0 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -91,6 +91,7 @@ We thank the following people for their extensive assistance in the development
- [Abhinav Sharma](https://github.com/abhi18av)
- [Adrian Lärkeryd](https://github.com/adrlar)
- [Alexander Peltzer](https://github.com/apeltzer)
- [Anders Sune Pedersen](https://github.com/asp8200)
- [Chela James](https://github.com/chelauk)
- [David Mas-Ponte](https://github.com/davidmasp)
- [Francesco L](https://github.com/nibscles)
Expand Down
107 changes: 0 additions & 107 deletions bin/concatenateVCFs.sh

This file was deleted.

45 changes: 16 additions & 29 deletions conf/modules.config
Original file line number Diff line number Diff line change
Expand Up @@ -470,28 +470,15 @@ process {

// VARIANT CALLING
process{
// ALL
withName: 'CONCAT_.*' {
// For unknown reasons, CONCAT_VCF sometimes fails with SIGPIPE
// (exit code 141). Rerunning the process will usually work.
errorStrategy = {task.exitStatus == 141 ? 'retry' : 'terminate'}
ext.args = { params.no_intervals ? "-n" : "" } //Why ConcatVCF is never run when no_intervals is set..
}
withName : 'BGZIP_VC_.*' {
publishDir = [
enabled: false
]
}

// DEEPVARIANT
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withName: 'CONCAT_DEEPVARIANT_.*' {
withName: 'MERGE_DEEPVARIANT_.*' {
publishDir = [
mode: params.publish_dir_mode,
path: { "${params.outdir}/variant_calling/${meta.id}/deepvariant" },
pattern: "*{vcf.gz,vcf.gz.tbi}"
]
}
withName: 'CONCAT_DEEPVARIANT_GVCF' {
withName: 'MERGE_DEEPVARIANT_GVCF' {
ext.prefix = {"${meta.id}.g"}
}
withName: 'DEEPVARIANT' {
Expand All @@ -513,7 +500,7 @@ process{
}

// FREEBAYES
withName: 'CONCAT_FREEBAYES' {
withName: 'MERGE_FREEBAYES' {
publishDir = [
mode: params.publish_dir_mode,
path: { "${params.outdir}/variant_calling/${meta.id}/freebayes" },
Expand Down Expand Up @@ -547,7 +534,7 @@ process{
}

// HAPLOTYPECALLER
withName: 'CONCAT_HAPLOTYPECALLER' {
withName: 'MERGE_HAPLOTYPECALLER' {
ext.prefix = {"${meta.id}.g"}
publishDir = [
enabled: !params.no_intervals,
Expand Down Expand Up @@ -578,20 +565,20 @@ process{
}

// MANTA
withName: 'CONCAT_MANTA.*' {
withName: 'MERGE_MANTA.*' {
publishDir = [
mode: params.publish_dir_mode,
path: { "${params.outdir}/variant_calling/${meta.id}/manta" },
pattern: "*{vcf.gz,vcf.gz.tbi}"
]
}
withName: 'CONCAT_MANTA_DIPLOID' {
withName: 'MERGE_MANTA_DIPLOID' {
ext.prefix = {"${meta.id}.diploid_sv"}
}
withName: 'CONCAT_MANTA_SMALL_INDELS' {
withName: 'MERGE_MANTA_SMALL_INDELS' {
ext.prefix = {"${meta.id}.candidate_small_indels"}
}
withName: 'CONCAT_MANTA_SV' {
withName: 'MERGE_MANTA_SV' {
ext.prefix = {"${meta.id}.candidate_sv"}
}
withName: 'MANTA.*' {
Expand All @@ -606,17 +593,17 @@ process{
}

// STRELKA
withName: 'CONCAT_STRELKA.*' {
withName: 'MERGE_STRELKA.*' {
publishDir = [
mode: params.publish_dir_mode,
path: { "${params.outdir}/variant_calling/${meta.id}/strelka" },
pattern: "*{vcf.gz,vcf.gz.tbi}"
]
}
withName: 'CONCAT_STRELKA' {
withName: 'MERGE_STRELKA' {
ext.prefix = {"${meta.id}.variants"}
}
withName: 'CONCAT_STRELKA_GENOME' {
withName: 'MERGE_STRELKA_GENOME' {
ext.prefix = {"${meta.id}.genome"}
}
withName: 'STRELKA_.*' {
Expand Down Expand Up @@ -766,7 +753,7 @@ process{
}

//MANTA
withName: 'CONCAT_MANTA_TUMOR' {
withName: 'MERGE_MANTA_TUMOR' {
ext.prefix = {"${meta.id}.tumor_sv"}
}

Expand All @@ -780,7 +767,7 @@ process{
]
}

withName: 'CONCAT_MUTECT2.*' {
withName: 'MERGE_MUTECT2.*' {
publishDir = [
mode: params.publish_dir_mode,
path: { "${params.outdir}/variant_calling/${meta.id}/mutect2" },
Expand Down Expand Up @@ -957,7 +944,7 @@ process{
}

//MANTA
withName: 'CONCAT_MANTA_SOMATIC' {
withName: 'MERGE_MANTA_SOMATIC' {
ext.prefix = {"${meta.id}.somatic_sv"}
}

Expand All @@ -979,10 +966,10 @@ process{
}

//STRELKA
withName: 'CONCAT_STRELKA_INDELS' {
withName: 'MERGE_STRELKA_INDELS' {
ext.prefix = {"${meta.id}.somatic_indels"}
}
withName: 'CONCAT_STRELKA_SNVS' {
withName: 'MERGE_STRELKA_SNVS' {
ext.prefix = {"${meta.id}.somatic_snvs"}
}

Expand Down
6 changes: 3 additions & 3 deletions modules.json
Original file line number Diff line number Diff line change
Expand Up @@ -147,6 +147,9 @@
"gatk4/mergemutectstats": {
"git_sha": "169b2b96c1167f89ab07127b7057c1d90a6996c7"
},
"gatk4/mergevcfs": {
"git_sha": "4199a05aeb0ec277d40cb112949bb85893310873"
},
"gatk4/mutect2": {
"git_sha": "169b2b96c1167f89ab07127b7057c1d90a6996c7"
},
Expand Down Expand Up @@ -219,9 +222,6 @@
"strelka/somatic": {
"git_sha": "e745e167c1020928ef20ea1397b6b4d230681b4d"
},
"tabix/bgzip": {
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"git_sha": "37bf3936f3665483d070a5e0e0b314311032af7c"
},
"tabix/bgziptabix": {
"git_sha": "49b18b1639f4f7104187058866a8fab33332bdfe"
},
Expand Down
35 changes: 0 additions & 35 deletions modules/local/concat_vcf/main.nf

This file was deleted.

47 changes: 47 additions & 0 deletions modules/nf-core/modules/gatk4/mergevcfs/main.nf

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