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Merge pull request #605 from nf-core/bugfix
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Resolve issues that cropped up when aligner and mt_aligner were different
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ramprasadn committed Aug 27, 2024
2 parents d635171 + ca688e5 commit 92e0d64
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Showing 7 changed files with 12 additions and 23 deletions.
1 change: 1 addition & 0 deletions CHANGELOG.md
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Expand Up @@ -37,6 +37,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0

### `Fixed`

- Issues that cropped up when `aligner` and `mt_aligner` were different [#605](https://github.com/nf-core/raredisease/pull/605)
- Update docs to show 'vep_plugin_files' as a mandatory parameter for SNV annotation [#594](https://github.com/nf-core/raredisease/issues/593)
- Error in SVDB merge when only a single SV caller is run [#586](https://github.com/nf-core/raredisease/pull/586)
- Errors due to misplaced version statements [#578](https://github.com/nf-core/raredisease/pull/578)
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23 changes: 9 additions & 14 deletions conf/modules/prepare_references.config
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Expand Up @@ -26,37 +26,32 @@ process {
}

withName: '.*PREPARE_REFERENCES:BWAMEM2_INDEX_GENOME' {
ext.when = {!params.bwamem2 && params.aligner == "bwamem2"}
ext.when = {!params.bwamem2 && (params.aligner == "bwamem2" || params.mt_aligner == "bwamem2")}
}

withName: '.*PREPARE_REFERENCES:BWAMEME_INDEX_GENOME' {
ext.args = '-a meme'
ext.when = {!params.bwameme && params.aligner == "bwameme"}
}

withName: '.*PREPARE_REFERENCES:BWAMEM2_INDEX_MT_SHIFT' {
ext.when = { (params.analysis_type.equals("wgs") || params.run_mt_for_wes) && params.aligner == "bwamem2"}
withName: '.*PREPARE_REFERENCES:BWA_INDEX_GENOME' {
ext.when = {!params.bwa && (!(params.aligner == "sentieon") || params.mt_aligner == "bwa")}
}

withName: '.*PREPARE_REFERENCES:BWAMEME_INDEX_MT_SHIFT' {
ext.args = '-a meme'
ext.when = { !(params.analysis_type == "wes") && params.aligner == "bwameme"}
withName: '.*PREPARE_REFERENCES:SENTIEON_BWAINDEX_GENOME' {
ext.when = {!params.bwa && (params.aligner == "sentieon" || params.mt_aligner == "sentieon")}
}

withName: '.*PREPARE_REFERENCES:SENTIEON_BWAINDEX_GENOME' {
ext.when = {!params.bwa && params.aligner == "sentieon"}
withName: '.*PREPARE_REFERENCES:BWAMEM2_INDEX_MT_SHIFT' {
ext.when = { (params.analysis_type.equals("wgs") || params.run_mt_for_wes) && params.mt_aligner == "bwamem2"}
}

withName: '.*PREPARE_REFERENCES:SENTIEON_BWAINDEX_MT_SHIFT' {
ext.when = { (params.analysis_type.equals("wgs") || params.run_mt_for_wes) && params.aligner == "sentieon"}
ext.when = { (params.analysis_type.equals("wgs") || params.run_mt_for_wes) && params.mt_aligner == "sentieon"}
}

withName: '.*PREPARE_REFERENCES:BWA_INDEX_MT_SHIFT' {
ext.when = { (params.analysis_type.equals("wgs") || params.run_mt_for_wes) && params.aligner == "bwa"}
}

withName: '.*PREPARE_REFERENCES:BWA_INDEX_GENOME' {
ext.when = {!params.bwa && (!(params.aligner == "sentieon") || params.aligner == "bwa")}
ext.when = { (params.analysis_type.equals("wgs") || params.run_mt_for_wes) && params.mt_aligner == "bwa"}
}

withName: '.*PREPARE_REFERENCES:SAMTOOLS_FAIDX_GENOME' {
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1 change: 0 additions & 1 deletion subworkflows/local/align.nf
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Expand Up @@ -21,7 +21,6 @@ workflow ALIGN {
ch_genome_dictionary // channel: [mandatory] [ val(meta), path(dict) ]
ch_mtshift_bwaindex // channel: [mandatory] [ val(meta), path(index) ]
ch_mtshift_bwamem2index // channel: [mandatory] [ val(meta), path(index) ]
ch_mtshift_bwamemeindex // channel: [mandatory] [ val(meta), path(index) ]
ch_mtshift_fasta // channel: [mandatory] [ val(meta), path(fasta) ]
ch_mtshift_dictionary // channel: [mandatory] [ val(meta), path(dict) ]
ch_mtshift_fai // channel: [mandatory] [ val(meta), path(fai) ]
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2 changes: 1 addition & 1 deletion subworkflows/local/alignment/align_bwa_bwamem2_bwameme.nf
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Expand Up @@ -68,7 +68,7 @@ workflow ALIGN_BWA_BWAMEM2_BWAMEME {
ch_align
.map{ meta, bam ->
new_id = meta.sample
new_meta = meta + [id:new_id, read_group:"\'@RG\\tID:" + new_id + "_" + meta.lane + "\\tPL:" + val_platform + "\\tSM:" + new_id + "\'"] - meta.subMap('lane')
new_meta = meta + [id:new_id, read_group:"\'@RG\\tID:" + new_id + "\\tPL:" + val_platform + "\\tSM:" + new_id + "\'"] - meta.subMap('lane')
[groupKey(new_meta, new_meta.num_lanes), bam]
}
.groupTuple()
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4 changes: 0 additions & 4 deletions subworkflows/local/prepare_references.nf
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Expand Up @@ -7,7 +7,6 @@ include { BWA_INDEX as BWA_INDEX_MT_SHIFT } from '../../modul
include { BWAMEM2_INDEX as BWAMEM2_INDEX_GENOME } from '../../modules/nf-core/bwamem2/index/main'
include { BWAMEM2_INDEX as BWAMEM2_INDEX_MT_SHIFT } from '../../modules/nf-core/bwamem2/index/main'
include { BWAMEME_INDEX as BWAMEME_INDEX_GENOME } from '../../modules/nf-core/bwameme/index/main'
include { BWAMEME_INDEX as BWAMEME_INDEX_MT_SHIFT } from '../../modules/nf-core/bwameme/index/main'
include { CAT_CAT as CAT_CAT_BAIT } from '../../modules/nf-core/cat/cat/main'
include { GATK4_BEDTOINTERVALLIST as GATK_BILT } from '../../modules/nf-core/gatk4/bedtointervallist/main'
include { GATK4_CREATESEQUENCEDICTIONARY as GATK_SD } from '../../modules/nf-core/gatk4/createsequencedictionary/main'
Expand Down Expand Up @@ -73,7 +72,6 @@ workflow PREPARE_REFERENCES {

// MT alignment indices
BWAMEM2_INDEX_MT_SHIFT(GATK_SHIFTFASTA.out.shift_fa)
BWAMEME_INDEX_MT_SHIFT(GATK_SHIFTFASTA.out.shift_fa)
BWA_INDEX_MT_SHIFT(GATK_SHIFTFASTA.out.shift_fa)
SENTIEON_BWAINDEX_MT_SHIFT(GATK_SHIFTFASTA.out.shift_fa)
ch_bwa_mtshift = Channel.empty().mix(SENTIEON_BWAINDEX_MT_SHIFT.out.index, BWA_INDEX_MT_SHIFT.out.index).collect()
Expand Down Expand Up @@ -143,7 +141,6 @@ workflow PREPARE_REFERENCES {
ch_versions = ch_versions.mix(SAMTOOLS_FAIDX_MT_SHIFT.out.versions)
ch_versions = ch_versions.mix(GATK_SD_MT_SHIFT.out.versions)
ch_versions = ch_versions.mix(GATK_SHIFTFASTA.out.versions)
ch_versions = ch_versions.mix(BWAMEME_INDEX_MT_SHIFT.out.versions)
ch_versions = ch_versions.mix(BWAMEM2_INDEX_MT_SHIFT.out.versions)
ch_versions = ch_versions.mix(BWA_INDEX_MT_SHIFT.out.versions)
ch_versions = ch_versions.mix(SENTIEON_BWAINDEX_MT_SHIFT.out.versions)
Expand Down Expand Up @@ -175,7 +172,6 @@ workflow PREPARE_REFERENCES {
mtshift_dict = GATK_SHIFTFASTA.out.dict.collect() // channel: [ path(dict) ]
mtshift_bwa_index = ch_bwa_mtshift // channel: [ val(meta), path(index) ]
mtshift_bwamem2_index = BWAMEM2_INDEX_MT_SHIFT.out.index.collect() // channel: [ val(meta), path(index) ]
mtshift_bwameme_index = BWAMEME_INDEX_MT_SHIFT.out.index.collect() // channel: [ val(meta), path(index) ]

gnomad_af_idx = TABIX_GNOMAD_AF.out.tbi.collect() // channel: [ val(meta), path(fasta) ]
known_dbsnp_tbi = TABIX_DBSNP.out.tbi.collect() // channel: [ val(meta), path(fasta) ]
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Expand Up @@ -90,7 +90,7 @@ workflow PIPELINE_INITIALISATION {
.combine( ch_original_input )
.map { counts, meta, fastq1, fastq2 ->
new_meta = meta + [num_lanes:counts[meta.id],
read_group:"\'@RG\\tID:"+ fastq1.toString().split('/')[-1] + "\\tPL:" + params.platform.toUpperCase() + "\\tSM:" + meta.id + "\'"]
read_group:"\'@RG\\tID:"+ fastq1.simpleName + "_" + meta.lane + "\\tPL:" + params.platform.toUpperCase() + "\\tSM:" + meta.id + "\'"]
if (!fastq2) {
return [ new_meta + [ single_end:true ], [ fastq1 ] ]
} else {
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2 changes: 0 additions & 2 deletions workflows/raredisease.nf
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Expand Up @@ -274,7 +274,6 @@ workflow RAREDISEASE {
ch_mtshift_backchain = ch_references.mtshift_backchain
ch_mtshift_bwaindex = ch_references.mtshift_bwa_index
ch_mtshift_bwamem2index = ch_references.mtshift_bwamem2_index
ch_mtshift_bwamemeindex = ch_references.mtshift_bwameme_index
ch_mtshift_dictionary = ch_references.mtshift_dict
ch_mtshift_fai = ch_references.mtshift_fai
ch_mtshift_fasta = ch_references.mtshift_fasta
Expand Down Expand Up @@ -415,7 +414,6 @@ workflow RAREDISEASE {
ch_genome_dictionary,
ch_mtshift_bwaindex,
ch_mtshift_bwamem2index,
ch_mtshift_bwamemeindex,
ch_mtshift_fasta,
ch_mtshift_dictionary,
ch_mtshift_fai,
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