Does anyone know if there is a way to determine copy number variants from a SNP array? I have read that it is doable with some arrays but can't find how. Thank you for the help.
I don't know about the tech these days, but 4 years ago we did it by genotyping the whole pedigree (Cytosnp), phasing the SNPs, and then looking for impossible allele combinations. I would always get 6 or 7 'impossibles' around CNVs.
If you have a CNV array then things are obviously a lot simpler - you simply look for regions of the genome which return non-0/50/100% signal intensity for the base called (using any of the many tools that plot that data)
<p>Hello,</p> <p>I know there are many reviews out there, but I can't seem to find exactly what I like.</p> <p>I found this software called mrCaNaVaR, …
I don't know about the tech these days, but 4 years ago we did it by genotyping the whole pedigree (Cytosnp), phasing the SNPs, and then looking for impossible allele combinations. I would always get 6 or 7 'impossibles' around CNVs.
If you have a CNV array then things are obviously a lot simpler - you simply look for regions of the genome which return non-0/50/100% signal intensity for the base called (using any of the many tools that plot that data)