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1 change: 1 addition & 0 deletions CHANGELOG.md
Original file line number Diff line number Diff line change
Expand Up @@ -20,6 +20,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- Removing Sentieon-based BQSR. Recent Illumina sequencers tend to provide well-calibrated BQs, so BQSR may not provide much benefit [#402](https://github.com/nf-core/raredisease/pull/402)
- Installed the nf-core version of the sentieon/dnamodelapply module [#403](https://github.com/nf-core/raredisease/pull/403)
- Installed the nf-core version of the sentieon/wgsmetricsalgo module [#404](https://github.com/nf-core/raredisease/pull/404)
- Installed the nf-core version of the sentieon/dnascope module [#406](https://github.com/nf-core/raredisease/pull/406)

### `Fixed`

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1 change: 1 addition & 0 deletions conf/modules/align_sentieon.config
Original file line number Diff line number Diff line change
Expand Up @@ -37,6 +37,7 @@ process {
withName: '.*ALIGN:ALIGN_SENTIEON:SENTIEON_DEDUP' {
ext.args = { $params.rmdup ? "--rmdup" : '' }
ext.prefix = { "${meta.id}_dedup" }
ext.suffix = ".bam"
publishDir = [
enabled: !params.save_mapped_as_cram,
path: { "${params.outdir}/alignment" },
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5 changes: 5 additions & 0 deletions modules.json
Original file line number Diff line number Diff line change
Expand Up @@ -365,6 +365,11 @@
"git_sha": "43ef68091a1188fd8dc4c03f9341b556803c7514",
"installed_by": ["modules"]
},
"sentieon/dnascope": {
"branch": "master",
"git_sha": "127edadc279e19da093fdd513926c6cdee82c306",
"installed_by": ["modules"]
},
"sentieon/readwriter": {
"branch": "master",
"git_sha": "b28e4dde755117e8dab5d6e85e292f145b8b53c3",
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62 changes: 0 additions & 62 deletions modules/local/sentieon/dnascope.nf

This file was deleted.

91 changes: 91 additions & 0 deletions modules/nf-core/sentieon/dnascope/main.nf

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103 changes: 103 additions & 0 deletions modules/nf-core/sentieon/dnascope/meta.yml

Some generated files are not rendered by default. Learn more about how customized files appear on GitHub.

14 changes: 8 additions & 6 deletions subworkflows/local/variant_calling/call_snv_sentieon.nf
Original file line number Diff line number Diff line change
Expand Up @@ -2,7 +2,7 @@
// A subworkflow to call SNVs by sentieon dnascope with a machine learning model.
//

include { SENTIEON_DNASCOPE } from '../../../modules/local/sentieon/dnascope'
include { SENTIEON_DNASCOPE } from '../../../modules/nf-core/sentieon/dnascope/main'
include { SENTIEON_DNAMODELAPPLY } from '../../../modules/nf-core/sentieon/dnamodelapply/main'
include { BCFTOOLS_MERGE } from '../../../modules/nf-core/bcftools/merge/main'
include { BCFTOOLS_NORM as SPLIT_MULTIALLELICS_SEN } from '../../../modules/nf-core/bcftools/norm/main'
Expand All @@ -15,20 +15,22 @@ include { BCFTOOLS_FILTER as BCF_FILTER_TWO } from '../../../modules/nf-c
workflow CALL_SNV_SENTIEON {
take:
ch_bam_bai // channel: [mandatory] [ val(meta), path(bam), path(bai) ]
ch_genome_fasta // channel: [mandatory] [ path(fasta) ]
ch_genome_fai // channel: [mandatory] [ path(fai) ]
ch_genome_fasta // channel: [mandatory] [ val(meta), path(fasta) ]
ch_genome_fai // channel: [mandatory] [ val(meta), path(fai) ]
ch_dbsnp // channel: [mandatory] [ val(meta), path(vcf) ]
ch_dbsnp_index // channel: [mandatory] [ val(meta), path(tbi) ]
ch_call_interval // channel: [mandatory] [ path(interval) ]
ch_ml_model // channel: [mandatory] [ path(model) ]
ch_call_interval // channel: [mandatory] [ val(meta), path(interval) ]
ch_ml_model // channel: [mandatory] [ val(meta), path(model) ]
ch_case_info // channel: [mandatory] [ val(case_info) ]

main:
ch_versions = Channel.empty()

SENTIEON_DNASCOPE ( ch_bam_bai, ch_genome_fasta, ch_genome_fai, ch_dbsnp, ch_dbsnp_index, ch_call_interval, ch_ml_model )

SENTIEON_DNAMODELAPPLY ( SENTIEON_DNASCOPE.out.vcf_index, ch_genome_fasta, ch_genome_fai, [ [:], ch_ml_model ] )
ch_dnamodelapply_in = SENTIEON_DNASCOPE.out.vcf.join(SENTIEON_DNASCOPE.out.index)

SENTIEON_DNAMODELAPPLY ( ch_dnamodelapply_in, ch_genome_fasta, ch_genome_fai, ch_ml_model )

BCF_FILTER_ONE (SENTIEON_DNAMODELAPPLY.out.vcf )

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8 changes: 4 additions & 4 deletions workflows/raredisease.nf
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Expand Up @@ -209,8 +209,8 @@ workflow RAREDISEASE {
ch_cadd_header = Channel.fromPath("$projectDir/assets/cadd_to_vcf_header_-1.0-.txt", checkIfExists: true).collect()
ch_cadd_resources = params.cadd_resources ? Channel.fromPath(params.cadd_resources).collect()
: Channel.value([])
ch_call_interval = params.call_interval ? Channel.fromPath(params.call_interval).collect()
: Channel.value([])
ch_call_interval = params.call_interval ? Channel.fromPath(params.call_interval).map {it -> [[id:it[0].simpleName], it]}.collect()
: Channel.value([[:],[]])
ch_dbsnp_tbi = params.known_dbsnp_tbi ? Channel.fromPath(params.known_dbsnp_tbi).map {it -> [[id:it[0].simpleName], it]}.collect()
: ch_references.known_dbsnp_tbi.ifEmpty([[],[]])
ch_gcnvcaller_model = params.gcnvcaller_model ? Channel.fromPath(params.gcnvcaller_model).splitCsv ( header:true )
Expand All @@ -234,8 +234,8 @@ workflow RAREDISEASE {
: Channel.empty()
ch_intervals_y = params.intervals_y ? Channel.fromPath(params.intervals_y).collect()
: Channel.empty()
ch_ml_model = params.variant_caller.equals("sentieon") ? Channel.fromPath(params.ml_model).collect()
: Channel.value([])
ch_ml_model = params.variant_caller.equals("sentieon") ? Channel.fromPath(params.ml_model).map {it -> [[id:it[0].simpleName], it]}.collect()
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Just curious, when using params.variant_caller.equals("sentieon") it kind of indicates that the raredisease-pipeline is designed to only use one variant-caller per run of the pipeline - is that correct?

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Yes, that is correct 😄

: Channel.value([[:],[]])
ch_mt_intervals = ch_references.mt_intervals
ch_mtshift_backchain = ch_references.mtshift_backchain
ch_mtshift_bwaindex = ch_references.mtshift_bwa_index
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