Variant Allele Frequency
How do we interpret the variant allele frequency to understand whether the variant is germline or somatic? How is it actually calculated?
I googled for these, but could not find a satisfactory answer.
Please help me, Thanks
• 1,440 views
•
link
1 answer
A somatic variant is identified by calling the cancer tissue compared to a non-cancerous tissue. It has nothing to do with frequency.
• 0 views
•
link
Log in to answer this question.
if you have a homogeneous tumor (without sub-clones) that is 100% pure (has no normal cells sequenced together) your allele frequency will be perfectly around 0.5 and 1 (OK this one is rare) - as for germline. In general (as Emily_Ensembl said) you need normal tissue and subtract normal mutations from tumor mutations.