ABO alleles

Question

[Fernando]

Hello, I'm setting up an ABO genotyping. I've generated a table with all the allelic variants of this gene and their changes compared to the reference genome. My idea is to extract all the variants using a VCF file and recreate this table for each sample in order to determine the different alleles. The problem lies mainly with the heterozygous patients, as for now I'm manually checking the mutations I have and conducting tests to obtain both alleles. Can someone help me solve this problem?

Answer 1

[Raony Guimarães]

You could use a tool such as BOOGIE to infer the ABO alleles using VCF files:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404330/