mitochondrial DNA in vcf for haplogrep2
0
0
Entering edit mode
5.2 years ago
biosol ▴ 170

Hi everyone,

I'm trying to analyse mitochondrial data from human samples, which I have stored in a vcffile. I've tried running Haplogrep2 (both cmd and online) but my results do not make sense. Reading other posts, I've realised that I should first align my data to the rCRSsequence, so I was wondering which tool to use... can please anyone suggest one? Or does Haplogrep2 directly align vcfs to the reference sequence?

I have another doubt as well: my vcfhas 0/0 and 1/1in every position, but... isn't mitochondrial DNA a single molecule?? Shouldn't I only have one allele??

Thanks in advance!

haplogrep2 mtDNA vcf • 1.2k views
ADD COMMENT
0
Entering edit mode

Haplogrep only supports rCRS/RSRS in the chromosome field in input files(VCF). The tool that has been used to call the variants uses ploidy 2 by default thats why you get 0/0 and 1/1.

ADD REPLY

Login before adding your answer.

Traffic: 2078 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6