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Add bwameme #553

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May 21, 2024
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2 changes: 2 additions & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -7,6 +7,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0

### `Added`

- A new aligner, bwameme [#553](https://github.com/nf-core/raredisease/pull/553)
- A new parameter `run_mt_for_wes` to turn on mitochondrial analysis for targeted analysis [#552](https://github.com/nf-core/raredisease/pull/552)
- A new parameter `bwa_as_fallback` to switch aligner to bwa in case bwamem2 fails [#551](https://github.com/nf-core/raredisease/pull/551)

Expand All @@ -25,6 +26,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0

| Old parameter | New parameter |
| ------------- | --------------- |
| | bwameme |
| | bwa_as_fallback |
| | run_mt_for_wes |

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18 changes: 18 additions & 0 deletions conf/modules/align_MT.config
Original file line number Diff line number Diff line change
Expand Up @@ -19,16 +19,25 @@ process {

withName: '.*ALIGN_MT:BWAMEM2_MEM_MT' {
ext.args = { "-M -K 100000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted" }
}

withName: '.*ALIGN_MT:BWAMEME_MEM_MT' {
ext.args = { "-7 -M -K 100000000 -R ${meta.read_group}" }
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ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted" }
}

withName: '.*ALIGN_MT:BWA_MEM_MT' {
ext.args = { "-M -K 100000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted" }
}

withName: '.*ALIGN_MT:SENTIEON_BWAMEM_MT' {
ext.args = { "-M -K 10000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted" }
}

Expand Down Expand Up @@ -67,16 +76,25 @@ process {

withName: '.*ALIGN_MT_SHIFT:BWAMEM2_MEM_MT' {
ext.args = { "-M -K 100000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted_shifted" }
}

withName: '.*ALIGN_MT_SHIFT:BWAMEME_MEM_MT' {
ext.args = { "-7 -M -K 100000000 -R ${meta.read_group}" }
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ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted_shifted" }
}

withName: '.*ALIGN_MT_SHIFT:SENTIEON_BWAMEM_MT' {
ext.args = { "-M -K 10000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted_shifted" }
}

withName: '.*ALIGN_MT_SHIFT:BWA_MEM_MT' {
ext.args = { "-M -K 100000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted_shifted" }
}

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Original file line number Diff line number Diff line change
Expand Up @@ -17,33 +17,40 @@

process {

withName: '.*ALIGN:ALIGN_BWA_BWAMEM2:BWAMEM2_MEM' {
withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:BWAMEM2_MEM' {
ext.args = { "-M -K 100000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted" }
}

withName: '.*ALIGN:ALIGN_BWA_BWAMEM2:BWAMEM_FALLBACK' {
withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:BWAMEM_FALLBACK' {
ext.args = { "-M -K 100000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted" }
}

withName: '.*ALIGN:ALIGN_BWA_BWAMEM2:BWA_MEM' {
withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:BWAMEME_MEM' {
ext.args = { "-7 -M -K 100000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted" }
ext.when = { params.aligner.equals("bwameme") }
}

withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:BWA_MEM' {
ext.args = { "-M -K 100000000 -R ${meta.read_group}" }
ext.args2 = { "-T ./samtools_sort_tmp" }
ext.prefix = { "${meta.id}_sorted" }
}

withName: '.*ALIGN:ALIGN_BWA_BWAMEM2:SAMTOOLS_STATS' {
withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:SAMTOOLS_STATS' {
ext.args = '-s --remove-overlaps'
}

withName: '.*ALIGN:ALIGN_BWA_BWAMEM2:SAMTOOLS_MERGE' {
withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:SAMTOOLS_MERGE' {
ext.prefix = { "${meta.id}_sorted_merged" }
}

withName: '.*ALIGN:ALIGN_BWA_BWAMEM2:MARKDUPLICATES' {
withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:MARKDUPLICATES' {
ext.args = "--TMP_DIR ."
ext.prefix = { "${meta.id}_sorted_md" }
publishDir = [
Expand All @@ -54,7 +61,7 @@ process {
]
}

withName: '.*ALIGN:ALIGN_BWA_BWAMEM2:SAMTOOLS_INDEX_MARKDUP' {
withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:SAMTOOLS_INDEX_MARKDUP' {
publishDir = [
enabled: !params.save_mapped_as_cram,
path: { "${params.outdir}/alignment" },
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10 changes: 10 additions & 0 deletions conf/modules/prepare_references.config
Original file line number Diff line number Diff line change
Expand Up @@ -29,10 +29,20 @@ process {
ext.when = {!params.bwamem2 && params.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: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"}
}
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2,514 changes: 1,242 additions & 1,272 deletions docs/images/raredisease_metromap_dark.svg
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