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fix genome null with annotation #1014

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May 5, 2023
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4 changes: 3 additions & 1 deletion CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -36,6 +36,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [#942](https://github.com/nf-core/sarek/pull/942) - Update `README.md`
- [#967](https://github.com/nf-core/sarek/pull/967) - Update and detail extensively how to use annotation cache
- [#968](https://github.com/nf-core/sarek/pull/968) - Update all modules
- [#1014](https://github.com/nf-core/sarek/pull/1014) - `snpeff_db` is now only the `db` version and not `genome.db`

### Fixed

Expand All @@ -48,12 +49,13 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [#928](https://github.com/nf-core/sarek/pull/928) - Fix [#700](https://github.com/nf-core/sarek/issues/700)
- [#929](https://github.com/nf-core/sarek/pull/929) - Fix somatic variant calling issues with msisensor following [#896](https://github.com/nf-core/sarek/pull/896)
- [#941](https://github.com/nf-core/sarek/pull/941) - Fix json validation for `tools`, `skip_tools` and `use_gatk_spark` [#892](https://github.com/nf-core/sarek/issues/892)
- [#954](https://github.com/nf-core/sarek/pull/954) - Fix missing annotation keys with snpeff and ensemblvep for `hg19`
- [#954](https://github.com/nf-core/sarek/pull/954) - Fix missing annotation keys with `snpeff` and `ensemblvep` for `hg19`
- [#957](https://github.com/nf-core/sarek/pull/957) - Add `failOnDuplicate` and `failOnMismatch` options to all `join()` operator where it was possible
- [#982](https://github.com/nf-core/sarek/pull/982) - Remove usage of exit statements, using `Nextflow.error` instead
- [#985](https://github.com/nf-core/sarek/pull/985) - Cache correctly identifies when it needs to be updated
- [#988](https://github.com/nf-core/sarek/pull/988) - Updated ascat module to fix seed for reproducibility
- [#998](https://github.com/nf-core/sarek/pull/998) - Remove parallelization within a sample for `Manta`
- [#1014](https://github.com/nf-core/sarek/pull/1014) - Fix calls to `ensemblvep` and `snpeff` containers

### Deprecated

Expand Down
24 changes: 12 additions & 12 deletions conf/igenomes.config
Original file line number Diff line number Diff line change
Expand Up @@ -35,7 +35,7 @@ params {
known_indels_tbi = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh37/Annotation/GATKBundle/{1000G_phase1,Mills_and_1000G_gold_standard}.indels.b37.vcf.gz.tbi"
known_indels_vqsr = '--resource:1000G,known=false,training=true,truth=true,prior=10.0 1000G_phase1.indels.b37.vcf.gz --resource:mills,known=false,training=true,truth=true,prior=10.0 Mills_and_1000G_gold_standard.indels.b37.vcf.gz'
mappability = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh37/Annotation/Control-FREEC/out100m2_hg19.gem"
snpeff_db = 'GRCh37.87'
snpeff_db = 87
snpeff_genome = 'GRCh37'
snpeff_version = '5.1'
vep_cache_version = 108
Expand Down Expand Up @@ -72,7 +72,7 @@ params {
mappability = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Annotation/Control-FREEC/out100m2_hg38.gem"
pon = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/1000g_pon.hg38.vcf.gz"
pon_tbi = "${params.igenomes_base}/Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/1000g_pon.hg38.vcf.gz.tbi"
snpeff_db = 'GRCh38.105'
snpeff_db = 105
snpeff_genome = 'GRCh38'
snpeff_version = '5.1'
vep_cache_version = 108
Expand All @@ -84,7 +84,7 @@ params {
bwa = "${params.igenomes_base}/Homo_sapiens/Ensembl/GRCh37/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Homo_sapiens/Ensembl/GRCh37/Sequence/WholeGenomeFasta/genome.fa"
readme = "${params.igenomes_base}/Homo_sapiens/Ensembl/GRCh37/Annotation/README.txt"
snpeff_db = 'GRCh37.87'
snpeff_db = 87
snpeff_genome = 'GRCh37'
snpeff_version = '5.1'
vep_cache_version = 108
Expand All @@ -95,7 +95,7 @@ params {
'NCBI.GRCh38' {
bwa = "${params.igenomes_base}/Homo_sapiens/NCBI/GRCh38/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Homo_sapiens/NCBI/GRCh38/Sequence/WholeGenomeFasta/genome.fa"
snpeff_db = 'GRCh38.105'
snpeff_db = 105
snpeff_genome = 'GRCh38'
snpeff_version = '5.1'
vep_cache_version = 108
Expand All @@ -121,7 +121,7 @@ params {
known_indels_tbi = "${params.igenomes_base}/Mus_musculus/Ensembl/GRCm38/MouseGenomeProject/mgp.v5.merged.indels.dbSNP142.normed.vcf.gz.tbi"
mappability = "${params.igenomes_base}/Mus_musculus/Ensembl/GRCm38/Annotation/Control-FREEC/GRCm38_68_mm10.gem"
readme = "${params.igenomes_base}/Mus_musculus/Ensembl/GRCm38/Annotation/README.txt"
snpeff_db = 'GRCm38.99'
snpeff_db = 99
snpeff_genome = 'GRCm38'
snpeff_version = '5.1'
vep_cache_version = 102
Expand All @@ -143,7 +143,7 @@ params {
bwa = "${params.igenomes_base}/Bos_taurus/Ensembl/UMD3.1/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Bos_taurus/Ensembl/UMD3.1/Sequence/WholeGenomeFasta/genome.fa"
readme = "${params.igenomes_base}/Bos_taurus/Ensembl/UMD3.1/Annotation/README.txt"
snpeff_db = 'UMD3.1.75'
snpeff_db = 75
snpeff_genome = 'UMD3.1'
snpeff_version = '5.1'
vep_cache_version = 94
Expand All @@ -154,7 +154,7 @@ params {
'WBcel235' {
bwa = "${params.igenomes_base}/Caenorhabditis_elegans/Ensembl/WBcel235/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Caenorhabditis_elegans/Ensembl/WBcel235/Sequence/WholeGenomeFasta/genome.fa"
snpeff_db = 'WBcel235.105'
snpeff_db = 105
snpeff_genome = 'WBcel235'
snpeff_version = '5.1'
vep_cache_version = 108
Expand All @@ -166,7 +166,7 @@ params {
bwa = "${params.igenomes_base}/Canis_familiaris/Ensembl/CanFam3.1/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Canis_familiaris/Ensembl/CanFam3.1/Sequence/WholeGenomeFasta/genome.fa"
readme = "${params.igenomes_base}/Canis_familiaris/Ensembl/CanFam3.1/Annotation/README.txt"
snpeff_db = 'CanFam3.1.99'
snpeff_db = 99
snpeff_genome = 'CanFam3.1'
snpeff_version = '5.1'
vep_cache_version = 104
Expand Down Expand Up @@ -226,7 +226,7 @@ params {
'R64-1-1' {
bwa = "${params.igenomes_base}/Saccharomyces_cerevisiae/Ensembl/R64-1-1/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Saccharomyces_cerevisiae/Ensembl/R64-1-1/Sequence/WholeGenomeFasta/genome.fa"
snpeff_db = 'R64-1-1.105'
snpeff_db = 105
snpeff_genome = 'R64-1-1'
snpeff_version = '5.1'
vep_cache_version = 108
Expand Down Expand Up @@ -256,7 +256,7 @@ params {
'hg38' {
bwa = "${params.igenomes_base}/Homo_sapiens/UCSC/hg38/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Homo_sapiens/UCSC/hg38/Sequence/WholeGenomeFasta/genome.fa"
snpeff_db = 'GRCh38.105'
snpeff_db = 105
snpeff_genome = 'GRCh38'
snpeff_version = '5.1'
vep_cache_version = 108
Expand All @@ -268,7 +268,7 @@ params {
bwa = "${params.igenomes_base}/Homo_sapiens/UCSC/hg19/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Homo_sapiens/UCSC/hg19/Sequence/WholeGenomeFasta/genome.fa"
readme = "${params.igenomes_base}/Homo_sapiens/UCSC/hg19/Annotation/README.txt"
snpeff_db = 'GRCh37.87'
snpeff_db = 87
snpeff_genome = 'GRCh37'
snpeff_version = '5.1'
vep_cache_version = 108
Expand All @@ -280,7 +280,7 @@ params {
bwa = "${params.igenomes_base}/Mus_musculus/UCSC/mm10/Sequence/BWAIndex/version0.6.0/"
fasta = "${params.igenomes_base}/Mus_musculus/UCSC/mm10/Sequence/WholeGenomeFasta/genome.fa"
readme = "${params.igenomes_base}/Mus_musculus/UCSC/mm10/Annotation/README.txt"
snpeff_db = 'GRCm38.99'
snpeff_db = 99
snpeff_genome = 'GRCm38'
snpeff_version = '5.1'
vep_cache_version = 102
Expand Down
4 changes: 2 additions & 2 deletions conf/modules/annotate.config
Original file line number Diff line number Diff line change
Expand Up @@ -20,7 +20,7 @@ process {
withName: 'SNPEFF_SNPEFF' {
ext.prefix = { "${vcf.baseName.minus(".vcf")}_snpEff" }
ext.args = '-nodownload -canon -v'
if (!params.snpeff_cache && !params.download_cache) container = { params.snpeff_genome ? "nfcore/snpeff:${params.snpeff_version}.${params.snpeff_genome}" : "nfcore/snpeff:${params.snpeff_version}.${params.genome}" }
if (!params.snpeff_cache && !params.download_cache) container = { params.snpeff_genome ? "docker.io/nfcore/snpeff:${params.snpeff_version}.${params.snpeff_genome}" : "docker.io/nfcore/snpeff:${params.snpeff_version}.${params.genome}" }
publishDir = [
[
mode: params.publish_dir_mode,
Expand All @@ -46,7 +46,7 @@ process {
].join(' ').trim() }
// If just VEP: <vcf prefix>_VEP.ann.vcf
ext.prefix = { "${vcf.baseName.minus(".vcf")}_VEP.ann" }
if (!params.vep_cache && !params.download_cache) container = { params.vep_genome ? "nfcore/vep:${params.vep_version}.${params.vep_genome}" : "nfcore/vep:${params.vep_version}.${params.genome}" }
if (!params.vep_cache && !params.download_cache) container = { params.vep_genome ? "docker.io/nfcore/vep:${params.vep_version}.${params.vep_genome}" : "docker.io/nfcore/vep:${params.vep_version}.${params.genome}" }
publishDir = [
[
mode: params.publish_dir_mode,
Expand Down
2 changes: 1 addition & 1 deletion conf/test/test.config
Original file line number Diff line number Diff line change
Expand Up @@ -41,7 +41,7 @@ params {
germline_resource = params.test_data['homo_sapiens']['genome']['gnomad_r2_1_1_vcf_gz']
intervals = params.test_data['homo_sapiens']['genome']['genome_interval_list']
known_indels = params.test_data['homo_sapiens']['genome']['mills_and_1000g_indels_vcf_gz']
snpeff_db = 'WBcel235.105'
snpeff_db = 105
snpeff_genome = 'WBcel235'
snpeff_version = '5.1'
vep_cache_version = 106
Expand Down
1 change: 0 additions & 1 deletion conf/test/test_full_germline.config
Original file line number Diff line number Diff line change
Expand Up @@ -22,5 +22,4 @@ params {

split_fastq = 50000000
nucleotides_per_second = 100000

}
2 changes: 1 addition & 1 deletion nextflow_schema.json
Original file line number Diff line number Diff line change
Expand Up @@ -681,7 +681,7 @@
"help_text": "If you use AWS iGenomes, this has already been set for you appropriately."
},
"snpeff_db": {
"type": "string",
"type": "number",
"fa_icon": "fas fa-database",
"description": "snpEff DB version.",
"help_text": "If you use AWS iGenomes, this has already been set for you appropriately.\nThis is used to specify the database to be use to annotate with.\nAlternatively databases' names can be listed with the `snpEff databases`.",
Expand Down
4 changes: 2 additions & 2 deletions workflows/sarek.nf
Original file line number Diff line number Diff line change
Expand Up @@ -302,7 +302,7 @@ workflow SAREK {
// Download cache if needed
// Assuming that if the cache is provided, the user has already downloaded it
ensemblvep_info = params.vep_cache ? [] : Channel.of([ [ id:"${params.vep_genome}.${params.vep_cache_version}" ], params.vep_genome, params.vep_species, params.vep_cache_version ])
snpeff_info = params.snpeff_cache ? [] : Channel.of([ [ id:params.snpeff_db ], params.snpeff_genome, params.snpeff_db.minus("${params.snpeff_genome}.") ])
snpeff_info = params.snpeff_cache ? [] : Channel.of([ [ id:"${params.snpeff_genome}.${params.snpeff_db}" ], params.snpeff_genome, params.snpeff_db ])

if (params.download_cache) {
PREPARE_CACHE(ensemblvep_info, snpeff_info)
Expand Down Expand Up @@ -1038,7 +1038,7 @@ workflow SAREK {
vcf_to_annotate,
vep_fasta,
params.tools,
snpeff_db,
params.snpeff_genome ? "${params.snpeff_genome}.${params.snpeff_db}" : "${params.genome}.${params.snpeff_db}",
snpeff_cache,
vep_genome,
vep_species,
Expand Down