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Can be tumor-only somatic variant calling performed using Strelka? #803

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ariadnaaterrades opened this issue Oct 20, 2022 · 4 comments · May be fixed by #1635
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Can be tumor-only somatic variant calling performed using Strelka? #803

ariadnaaterrades opened this issue Oct 20, 2022 · 4 comments · May be fixed by #1635
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@ariadnaaterrades
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Description of the bug

As you mention in your Nextflow pipeline: @https://nf-co.re/sarek/3.0.2/parameters it would be possible to obtain the results of tumor-only somatic variant calling using strelka tool (among other methods).

I've run the pipeline using strelka with tumor-only samples and I've ended up having results for germline variants (variants.vcf.gz, genome.S${N}.vcf.gz) instead of somatic ones (somatic.snvs.vcf.gz, somatic.indels.vcf.gz) (@https://github.com/Illumina/strelka/blob/v2.9.x/docs/userGuide/README.md ).

I read that strelka can perform somatic variant calling when you have tumor-normal samples pairs, however it is not possible to do so when you have tumor-only samples. @https://academic.oup.com/bioinformatics/article/28/14/1811/218573. Did I miss any extra parameter?

Sorry in advance if i misunderstood something.

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@ariadnaaterrades ariadnaaterrades added the bug Something isn't working label Oct 20, 2022
@ariadnaaterrades ariadnaaterrades changed the title Tumor-only somatic variant calling can be performed using Strelka? Can be tumor-only somatic variant calling performed using Strelka? Oct 20, 2022
@FriederikeHanssen
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Hi @ariadnaaterrades ! Can you please post some more details: command run, samplesheet, any other configs/param files you are using, and the nextflow log?

@ariadnaaterrades
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Hi @FriederikeHanssen , thanks for your quick reply.

I've been using mainly the default parameters with GRCh38 genome version , here is the command run:

cd /DNA/Batch_01
srun --mpi=none --mem=40G --nodes=4 --ntasks-per-node=2 --partition=long --pty bash -i

module load Java/13.0.2
module load singularity/3.7.3

./nextflow run nf-core/sarek --input ./samplesheet_10102022.csv --outdir /DNA/Batch_01/ --genome GATK.GRCh38 -profile singularity --wes --intervals /DNA/xgen-exome-hyb-panel-v2-targets-hg38.bed --tools mutect2,freebayes,cnvkit,strelka

The sample sheet looks like this:

<title></title>
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<style type="text/css">
	body,div,table,thead,tbody,tfoot,tr,th,td,p { font-family:"Liberation Sans"; font-size:x-small }
	a.comment-indicator:hover + comment { background:#ffd; position:absolute; display:block; border:1px solid black; padding:0.5em;  } 
	a.comment-indicator { background:red; display:inline-block; border:1px solid black; width:0.5em; height:0.5em;  } 
	comment { display:none;  } 
</style>
patient status sample lane fastq_1 fastq_2
Sample1 1 Sample1_Tumor 1 /DNA/Batch_01/Sample1_R1_001.fastq.gz /DNA/Batch_01/Sample1_R2_001.fastq.gz
Sample2 1 Sample2_Tumor 1 /DNA/Batch_01/Sample2_R1_001.fastq.gz /DNA/Batch_01/Sample2_R2_001.fastq.gz
Sample3 1 Sample3_Tumor 1 /DNA/Batch_01/Sample3_R1_001.fastq.gz /DNA/Batch_01/Sample3_R2_001.fastq.gz
Sample4 1 Sample4_Tumor 1 /DNA/Batch_01/Sample4_R1_001.fastq.gz /DNA/Batch_01/Sample4_R2_001.fastq.gz
Sample5 1 Sample5_Tumor 1 /DNA/Batch_01/Sample5_R1_001.fastq.gz /DNA/Batch_01/Sample5_R2_001.fastq.gz
Sample6 1 Sample6_Tumor 1 /DNA/Batch_01/Sample6_R1_001.fastq.gz /DNA/Batch_01/Sample6_R2_001.fastq.gz
Sample7 1 Sample7_Tumor 1 /DNA/Batch_01/Sample7_R1_001.fastq.gz /DNA/Batch_01/Sample7_R2_001.fastq.gz

And the thing is that there is no error in the execution_report_2022-10-11_13-00-30.html file...all the processes seem to be complete correctly. I did end up having output files, but not the somatic ones. For that reason I decided to look at the strelka tool information and I realized that it might not be possible to run tumor-only somatic variant calling.

@FriederikeHanssen
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FriederikeHanssen commented Nov 2, 2022

Hey! Apologies for the late reply, I was OOO, but back now. So strelka is run with the following command for tumor-only samples:

https://github.com/nf-core/sarek/blob/master/modules/nf-core/modules/strelka/germline/main.nf

So with the "germline" module which is the only one we have available now as you correctly noted. However, there should still be the respective output present for you sample names. If that is the case, then the output is as expected and we can close the issue. The somatic ones can only be called with paired samples to my knowledge.

@ariadnaaterrades
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Hi!

As you mention, I ended up having germline results instead of somatic ones. However, I decided to run strelka among other methods to perform tumor-only somatic variant calling because in your website indicates that it would be possible to do so. https://nf-co.re/sarek/3.0.2/parameters

image

As you said, according to strelka's paper: https://academic.oup.com/bioinformatics/article/28/14/1811/218573 it is not possible to run it but when I saw your website information I thought that you may have implemented some changes in order to be capable of running it.

I think that changing the website information could prevent other people from misunderstanding.

Thank you so much!

@maxulysse maxulysse added this to the 3.2 milestone Feb 21, 2023
@github-project-automation github-project-automation bot moved this to Todo (Hackathon General) in nf-core Hackathon March 2023 Mar 21, 2023
@maxulysse maxulysse modified the milestones: 3.2, 3.3 Jun 22, 2023
@maxulysse maxulysse modified the milestones: 3.3, 3.4, 3.5 Feb 8, 2024
@famosab famosab linked a pull request Aug 29, 2024 that will close this issue
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@nevinwu nevinwu self-assigned this Oct 28, 2024
@nevinwu nevinwu moved this to In Progress in Hackathon October 2024 Oct 29, 2024
maxulysse pushed a commit that referenced this issue Oct 29, 2024
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Closes #803.

I have removed `strelka` **tumor-only somatic variant calling** from the
`bam_variant_calling_tumor_only_all` subworkflow. Also i have updated
the subway image, docs and tests.

Maybe we should leave the PR open for a few days to see if anyone
complains about removing it:
https://nfcore.slack.com/archives/CGFUX04HZ/p1730110553053079

## PR checklist

- [x] This comment contains a description of changes (with reason).
- [ ] If you've fixed a bug or added code that should be tested, add
tests!
- [ ] If you've added a new tool - have you followed the pipeline
conventions in the [contribution
docs](https://github.com/nf-core/sarek/tree/master/.github/CONTRIBUTING.md)
- [ ] If necessary, also make a PR on the nf-core/sarek _branch_ on the
[nf-core/test-datasets](https://github.com/nf-core/test-datasets)
repository.
- [ ] Make sure your code lints (`nf-core lint`).
- [ ] Ensure the test suite passes (`nextflow run . -profile test,docker
--outdir <OUTDIR>`).
- [ ] Check for unexpected warnings in debug mode (`nextflow run .
-profile debug,test,docker --outdir <OUTDIR>`).
- [ ] Usage Documentation in `docs/usage.md` is updated.
- [ ] Output Documentation in `docs/output.md` is updated.
- [ ] `CHANGELOG.md` is updated.
- [ ] `README.md` is updated (including new tool citations and
authors/contributors).

---------

Co-authored-by: fmartinez <[email protected]>
@nevinwu nevinwu moved this from In Progress to Done in Hackathon October 2024 Oct 29, 2024
@nevinwu nevinwu closed this as completed by moving to Done in Hackathon October 2024 Oct 29, 2024
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