Query

[sania Rauf]

Hello

I had done whole exome sequencing in 2019 and found a insertion mutation in a gene in my all 13 familial hypertensive patients and DNA sequence was aligned with Hg37. 

I had sent my paper to a journal and they want me to confirm the insertion mutation through Sanger. 

After Sanger I found this mutation in all previously sequenced 13 patients and also in some new hypertensive patients. So overall in all 20 patients we saw that mutation. 

But now my colleague said it is may be system artefact it is not actually a mutation. 

Please guide me on this.

Regards

Sania

[igv-help]

Hi Sania,

This is a forum for asking questions about using IGV. We (the IGV development team) cannot advise on the interpretation of your data.

Helga