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Merge pull request #8 from maxulysse/mutect2
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Adding PON with Mutect2
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maxulysse authored Apr 4, 2024
2 parents e18cbfe + 2a84359 commit 7a8d930
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Showing 36 changed files with 1,253 additions and 156 deletions.
1 change: 1 addition & 0 deletions .gitignore
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Expand Up @@ -7,3 +7,4 @@ results/
testing*
testing/
work/
.nf-test.log
1 change: 1 addition & 0 deletions CHANGELOG.md
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Expand Up @@ -12,6 +12,7 @@ Initial release of nf-core/createpanelrefs, created with the [nf-core](https://n
- [#5](https://github.com/nf-core/createpanelrefs/pull/5) - `CNVKIT` can be used to create a PON
- [#5](https://github.com/nf-core/createpanelrefs/pull/5) - Usage of nf-validation
- [#5](https://github.com/nf-core/createpanelrefs/pull/5) - Usage of nf-test
- [#8](https://github.com/nf-core/createpanelrefs/pull/8) - `Mutect2` can be used to create a PON

### `Fixed`

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1 change: 0 additions & 1 deletion conf/igenomes.config
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Expand Up @@ -280,7 +280,6 @@ params {
'GATK.GRCh38' {
bwa = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Sequence/BWAIndex/"
bwamem2 = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Sequence/BWAmem2Index/"
cf_chrom_len = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Sequence/Length/Homo_sapiens_assembly38.len"
dbsnp = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/dbsnp_146.hg38.vcf.gz"
dbsnp_tbi = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/dbsnp_146.hg38.vcf.gz.tbi"
dict = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Sequence/WholeGenomeFasta/Homo_sapiens_assembly38.dict"
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19 changes: 19 additions & 0 deletions conf/modules/mutect2.config
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@@ -0,0 +1,19 @@
/*
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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.
----------------------------------------------------------------------------------------
*/

process {

withName: '.*BAM_CREATE_SOM_PON_GATK:GATK4_MUTECT2' {
ext.args = "--max-mnp-distance 0"
}

}
15 changes: 9 additions & 6 deletions conf/test.config
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Expand Up @@ -20,17 +20,20 @@ params {
max_time = '6.h'

// Input data
input = "${projectDir}/tests/csv/1.0.0/cram.csv"
input = "${projectDir}/tests/csv/1.0.0/bam.csv"

// Main options
tools = 'cnvkit'

//Germlinecnvcaller options
gcnv_scatter_content = 2
gcnv_ploidy_priors = "https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/contig_ploidy_priors_table.tsv"
gcnv_scatter_content = 2
gcnv_ploidy_priors = "https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/contig_ploidy_priors_table.tsv"

// Small reference genome
genome = null
igenomes_ignore = true
fasta = "https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/genome/genome.fasta"
genome = null
igenomes_ignore = true
fasta = "https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/genome/chr21/sequence/genome.fasta"
dict = "https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/genome/chr21/sequence/genome.dict"
fai = "https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/genome/chr21/sequence/genome.fasta.fai"
target_bed = "https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/genome/chr21/sequence/multi_intervals.bed"
}
20 changes: 20 additions & 0 deletions modules.json
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Expand Up @@ -30,6 +30,11 @@
"git_sha": "3f5420aa22e00bd030a2556dfdffc9e164ec0ec5",
"installed_by": ["modules"]
},
"gatk4/createsomaticpanelofnormals": {
"branch": "master",
"git_sha": "d742e3143f2ccb8853c29b35cfcf50b5e5026980",
"installed_by": ["bam_create_som_pon_gatk"]
},
"gatk4/determinegermlinecontigploidy": {
"branch": "master",
"git_sha": "3f5420aa22e00bd030a2556dfdffc9e164ec0ec5",
Expand All @@ -40,6 +45,11 @@
"git_sha": "3f5420aa22e00bd030a2556dfdffc9e164ec0ec5",
"installed_by": ["modules"]
},
"gatk4/genomicsdbimport": {
"branch": "master",
"git_sha": "5caf7640a9ef1d18d765d55339be751bb0969dfa",
"installed_by": ["bam_create_som_pon_gatk"]
},
"gatk4/germlinecnvcaller": {
"branch": "master",
"git_sha": "3f5420aa22e00bd030a2556dfdffc9e164ec0ec5",
Expand All @@ -50,6 +60,11 @@
"git_sha": "3f5420aa22e00bd030a2556dfdffc9e164ec0ec5",
"installed_by": ["modules"]
},
"gatk4/mutect2": {
"branch": "master",
"git_sha": "d742e3143f2ccb8853c29b35cfcf50b5e5026980",
"installed_by": ["bam_create_som_pon_gatk"]
},
"gatk4/preprocessintervals": {
"branch": "master",
"git_sha": "3f5420aa22e00bd030a2556dfdffc9e164ec0ec5",
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},
"subworkflows": {
"nf-core": {
"bam_create_som_pon_gatk": {
"branch": "master",
"git_sha": "b0783b07beb65cac505fa6202e8f670437637b45",
"installed_by": ["subworkflows"]
},
"utils_nextflow_pipeline": {
"branch": "master",
"git_sha": "5caf7640a9ef1d18d765d55339be751bb0969dfa",
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48 changes: 48 additions & 0 deletions modules/nf-core/gatk4/createsomaticpanelofnormals/main.nf

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69 changes: 69 additions & 0 deletions modules/nf-core/gatk4/createsomaticpanelofnormals/meta.yml

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7 changes: 7 additions & 0 deletions modules/nf-core/gatk4/genomicsdbimport/environment.yml

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104 changes: 104 additions & 0 deletions modules/nf-core/gatk4/genomicsdbimport/main.nf

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