This is a test version of Biostars. For the public version, visit https://www.biostars.org.
Needs recommendation - Variant Call from RNA seq data of tumor-normal pairs.

Dear folks,

I understand that the WGS and WES are more frequently applied for variant call analysis.

I've seen a few reports using RNA-seq for variant calling. However, I didn't yet found one that support the tumor-normal sample pairs. Could anyone help recommend one?

Thank you.

Field

variant call tumor-normal rna-seq

Hi Cpad, Thank you so much for your kind recommendation. I regularly use GATK for paired Tumor-Normal WES samples. It seems to me they haven't developed a paired Tumor-Normal set mode for RNA-seq.

I totally understand RNA-seq is not the best source for variant calling. I have to optimize the pipeline with my limited fund, unfortunately.

Best, Field

1 answer

Hi, indeed there are no gold-standard pipelines for SNP calling for RNA-Seq, so I would just recommend you to process your data with any popular software and then apply some stringent filters. For example, you can see how we performed SNP calling on FFPE paired cancer samples using bcftools, then filtering for quality of SNPs. In the end we got quite sensical results, so I think you can go ahead and try. https://www.mdpi.com/2072-6694/12/10/2844/htm

Thank you so much for you recommendation. I would look deeper into your publication.

Best. Field

Log in to answer this question.