<p>Yes and no. Yes, there are tools that can do this, but no, they do not work very well. Short read NGS sequencing just isn't the right tool to find large structural variants like CNVs. As a rule of thumb, you can expect around 30% accuracy when compared to other experimental approaches such as <a href="https://en.wikipedia.org/wiki/Multiplex_ligation-dependent_probe_amplification" rel="nofollow noreferrer">MLPA</a> or <a href="https://en.wikipedia.org/wiki/Comparative_genomic_hybridization#Array_comparative_genomic_hybridization" rel="nofollow noreferrer">array CHG</a>. That said, yes, there are indeed various tools that can do this. My personal favorite is <a href="https://github.com/dellytools/delly" rel="nofollow noreferrer">delly</a> because it is accurate, actively maintained and since it is written in C it is quite fast.</p>
<p>Once you have downloaded and installed it, you'll likely need to convert your cram to bam as I don't think it can deal with cram:</p>
<pre><code>samtools view -b foo.cram &gt; foo.bam
</code></pre>
<p>Then you can run delly on it with (assuming your cram was aligned against hg38):</p>
<pre><code>delly call -x path/to/delly/excludeTemplates/human.hg38.excl.tsv \
   -g path/to/hg38.fa -o out.bcf foo.bam
</code></pre>
<p>You will also need to download a copy of the human genome fasta file that Nebula used to generate your cram. You can ask them where to get one, and change <code>path/to/hg38.fa</code> with the path to that file.</p>

CC BY-SA 4.0
2024-01-19T13:16:05.073Z
2024-01-19T13:16:05.073Z
terdon
<p>I want to find my copy number variants. I got DNA testing from the Nebula Genomics and received the raw datas in .cram, .fastq, .vcf formats. Are there any simple and easy method to call my copy number variants from one of these files? I tried GATK, but I was unable to collect Read Counts from 1000 genomes datas.</p>

<wgs><cnv>
Are there any simple ways to call copy number variants from a Nebula Genomics WGS data?
# Are there any simple ways to call copy number variants from a Nebula Genomics WGS data?

(Asked by: username_0 on 2024-01-18)

I want to find my copy number variants. I got DNA testing from the Nebula Genomics and received the raw datas in .cram, .fastq, .vcf formats. Are there any simple and easy method to call my copy number variants from one of these files? I tried GATK, but I was unable to collect Read Counts from 1000 genomes datas.

**Tags:** wgs, cnv

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## 1 answers

### Answer by username_1 on 2024-01-19. Score: 0

Yes and no. Yes, there are tools that can do this, but no, they do not work very well. Short read NGS sequencing just isn't the right tool to find large structural variants like CNVs. As a rule of thumb, you can expect around 30% accuracy when compared to other experimental approaches such as MLPA or array CHG. That said, yes, there are indeed various tools that can do this. My personal favorite is delly because it is accurate, actively maintained and since it is written in C it is quite fast.
Once you have downloaded and installed it, you'll likely need to convert your cram to bam as I don't think it can deal with cram:
samtools view -b foo.cram > foo.bam

Then you can run delly on it with (assuming your cram was aligned against hg38):
delly call -x path/to/delly/excludeTemplates/human.hg38.excl.tsv \
   -g path/to/hg38.fa -o out.bcf foo.bam

You will also need to download a copy of the human genome fasta file that Nebula used to generate your cram. You can ask them where to get one, and change path/to/hg38.fa with the path to that file.


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