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Merge pull request #597 from WackerO/tiddit
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Tiddit for tumor varcalling
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FriederikeHanssen authored Jun 23, 2022
2 parents a1e271c + 656af02 commit cd503d1
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1 change: 1 addition & 0 deletions CHANGELOG.md
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Expand Up @@ -32,6 +32,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
- [#582](https://github.com/nf-core/sarek/pull/582) - Added option `--vep_out_format` for setting the format of the output-file from VEP to `json`, `tab` or `vcf` (default)
- [#594](https://github.com/nf-core/sarek/pull/594) - Add parameter `--save_output_as_bam` to allow output of result files in BAM format
- [#600](https://github.com/nf-core/sarek/pull/600) - Added description for UMI related params in schema
- [#597](https://github.com/nf-core/sarek/pull/597) - Added tiddit for tumor variant calling

### Changed

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150 changes: 95 additions & 55 deletions docs/images/sarek_subway.svg
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4 changes: 2 additions & 2 deletions subworkflows/local/germline_variant_calling.nf
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Expand Up @@ -18,14 +18,14 @@ workflow GERMLINE_VARIANT_CALLING {
bwa // channel: [mandatory] bwa
dbsnp // channel: [mandatory] dbsnp
dbsnp_tbi // channel: [mandatory] dbsnp_tbi
known_sites
known_sites_tbi
dict // channel: [mandatory] dict
fasta // channel: [mandatory] fasta
fasta_fai // channel: [mandatory] fasta_fai
intervals // channel: [mandatory] intervals/target regions
intervals_bed_gz_tbi // channel: [mandatory] intervals/target regions index zipped and indexed
intervals_bed_combined // channel: [mandatory] intervals/target regions in one file unzipped
known_sites
known_sites_tbi
// joint_germline // val: true/false on whether to run joint_germline calling, only works in combination with haplotypecaller at the moment

main:
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26 changes: 18 additions & 8 deletions subworkflows/local/tumor_variant_calling.nf
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Expand Up @@ -10,25 +10,27 @@ include { RUN_STRELKA_SINGLE } from '../nf-core/variantcall
include { RUN_CONTROLFREEC_TUMORONLY } from '../nf-core/variantcalling/controlfreec/tumoronly/main.nf'
include { RUN_CNVKIT_TUMORONLY } from '../nf-core/variantcalling/cnvkit/tumoronly/main.nf'
include { RUN_MPILEUP } from '../nf-core/variantcalling/mpileup/main'
include { RUN_TIDDIT } from '../nf-core/variantcalling/tiddit/main.nf'

workflow TUMOR_ONLY_VARIANT_CALLING {
take:
tools // Mandatory, list of tools to apply
cram_recalibrated // channel: [mandatory] cram
bwa // channel: [optional] bwa
chr_files
dbsnp // channel: [mandatory] dbsnp
dbsnp_tbi // channel: [mandatory] dbsnp_tbi
dict // channel: [mandatory] dict
fasta // channel: [mandatory] fasta
fasta_fai // channel: [mandatory] fasta_fai
germline_resource // channel: [optional] germline_resource
germline_resource_tbi // channel: [optional] germline_resource_tbi
intervals // channel: [mandatory] intervals/target regions
intervals_bed_gz_tbi // channel: [mandatory] intervals/target regions index zipped and indexed
intervals_bed_combined // channel: [mandatory] intervals/target regions in one file unzipped
germline_resource // channel: [optional] germline_resource
germline_resource_tbi // channel: [optional] germline_resource_tbi
mappability
panel_of_normals // channel: [optional] panel_of_normals
panel_of_normals_tbi // channel: [optional] panel_of_normals_tbi
chr_files
mappability

main:

Expand All @@ -39,6 +41,7 @@ workflow TUMOR_ONLY_VARIANT_CALLING {
manta_vcf = Channel.empty()
mutect2_vcf = Channel.empty()
strelka_vcf = Channel.empty()
tiddit_vcf = Channel.empty()

// Remap channel with intervals
cram_recalibrated_intervals = cram_recalibrated.combine(intervals)
Expand Down Expand Up @@ -152,16 +155,23 @@ workflow TUMOR_ONLY_VARIANT_CALLING {
ch_versions = ch_versions.mix(RUN_STRELKA_SINGLE.out.versions)
}

//TIDDIT
if (tools.contains('tiddit')){
RUN_TIDDIT(cram_recalibrated,
fasta,
bwa)

// if (tools.contains('tiddit')){
// }
tiddit_vcf = RUN_TIDDIT.out.tiddit_vcf
ch_versions = ch_versions.mix(RUN_TIDDIT.out.versions)
}

emit:
versions = ch_versions

emit:
freebayes_vcf
manta_vcf
mutect2_vcf
strelka_vcf
tiddit_vcf

versions = ch_versions
}
11 changes: 11 additions & 0 deletions tests/test_tools.yml
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Expand Up @@ -81,6 +81,17 @@
- path: results/variant_calling/sample1/tiddit/sample1.vcf.gz
- path: results/variant_calling/sample1/tiddit/sample1.vcf.gz.tbi

- name: Run variant calling on tumor_only sample with tiddit
command: nextflow run main.nf -profile test,tools_tumoronly,docker --tools tiddit -c ./tests/nextflow.config
tags:
- tiddit
- tumor_only
- variant_calling
files:
- path: results/variant_calling/sample2/tiddit/sample2.ploidies.tab
- path: results/variant_calling/sample2/tiddit/sample2.vcf.gz
- path: results/variant_calling/sample2/tiddit/sample2.vcf.gz.tbi

- name: Run variant calling on somatic samples with controlfreec
command: nextflow run main.nf -profile test,tools_somatic,docker --tools controlfreec -c ./tests/nextflow.config
tags:
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18 changes: 10 additions & 8 deletions workflows/sarek.nf
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Expand Up @@ -802,34 +802,35 @@ workflow SAREK {
[],
dbsnp,
dbsnp_tbi,
known_sites,
known_sites_tbi,
dict,
fasta,
fasta_fai,
intervals,
intervals_bed_gz_tbi,
intervals_bed_combined)
intervals_bed_combined,
known_sites,
known_sites_tbi)
// params.joint_germline)

// TUMOR ONLY VARIANT CALLING
TUMOR_ONLY_VARIANT_CALLING(
params.tools,
cram_variant_calling_tumor_only,
[],
chr_files,
dbsnp,
dbsnp_tbi,
dict,
fasta,
fasta_fai,
germline_resource,
germline_resource_tbi,
intervals,
intervals_bed_gz_tbi,
intervals_bed_combined,
germline_resource,
germline_resource_tbi,
mappability,
pon,
pon_tbi,
chr_files,
mappability
pon_tbi
)

// PAIR VARIANT CALLING
Expand Down Expand Up @@ -865,6 +866,7 @@ workflow SAREK {
vcf_to_annotate = vcf_to_annotate.mix(TUMOR_ONLY_VARIANT_CALLING.out.mutect2_vcf)
vcf_to_annotate = vcf_to_annotate.mix(TUMOR_ONLY_VARIANT_CALLING.out.manta_vcf)
vcf_to_annotate = vcf_to_annotate.mix(TUMOR_ONLY_VARIANT_CALLING.out.strelka_vcf)
vcf_to_annotate = vcf_to_annotate.mix(TUMOR_ONLY_VARIANT_CALLING.out.tiddit_vcf)
vcf_to_annotate = vcf_to_annotate.mix(PAIR_VARIANT_CALLING.out.mutect2_vcf)
vcf_to_annotate = vcf_to_annotate.mix(PAIR_VARIANT_CALLING.out.manta_vcf)
vcf_to_annotate = vcf_to_annotate.mix(PAIR_VARIANT_CALLING.out.strelka_vcf)
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