This is a test version of Biostars. For the public version, visit https://www.biostars.org.
How to search whole exome vcf file for haplotype

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.

celiac hla-dq2 hla-dqa1 hla-dqb1 hla-dq8

0 answers

No answers yet.

Log in to answer this question.