I want to check a whole exome vcf file for celiac disease.
What I found was to check for HLA-DQ2 and HLA-DQ8.
Please correct me if I'm wrong, I'll just say what I understood so far: those are haplotypes. Which means a "set" of SNPs in a contiguous region of the DNA. HLA-DQ2 and HLA-DQ8 span from HLA-DQA1 to HLA-DQB1 genes.
And there are some identified alleles that "match" these haplotypes. DQA102:01-DQB102:02 form the DQ2.2 haplotype.
If this is all correct, how can I detect which allele is this specific HLA-DQA1 gene in this vcf file? And the same for HLA-DQB1.
The closer I think I got from some actual data is this: https://www.ebi.ac.uk/ipd/imgt/hla/alleles/?query=startsWith(name,%22A*02:01%22)
Which yields 436 results. Are A02:01:15 and A02:01:17 "subtypes" of DQA1*02:01? If so, should I try all of these results for a match? And what tool can I use for that?
Any help would be greatly appreciated. Even pointing me in the right direction if I'm totally lost.
Thank you.
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