Entering edit mode
13 months ago
toma.85
•
0
Dear all, I am analysing sequencing data on mitochondrial DNA with the aim of finding pathogenic variants. I only have the vcf's. Does anyone have any suggestions as to where I can annotate them? Unfortunately Annovar doesn't annotate anything for me and the other online tools I find a bit too cumbersome. Also, I would like to understand how I can tell from the VCF whether the variant in question is present in a state of heterochromia or homoplasmy or heteroplasmy and how to calculate the percentage. thank you.
