How did the MHC haplotype sequencing project come about?
When we all applied for the current NGFN Plus funding period, it was clear that we wanted to carry out analysis of molecular haplotype structures underlying disease regions, based on our established haploid reference resource. When we discussed which region to establish molecular haplotype structures for, there was general interest of the entire network to analyze the MHC region, because this is the most disease gene-rich region in the human genome. Many disease phenotypes have been mapped to the MHC region, for instance psoriasis, sarcoidosis, diabetes type 1, schizophrenia, alopecia areata, allergies, and asthma — in general many infectious diseases, autoimmune diseases, and inflammatory diseases. Also, this region is of extreme importance for transplant medicine. The MHC region is highly variable. Just to illustrate, there are more than 70,000 SNPs in this region — and a plateau has not been reached — and there is a large number of structural variations such as insertions, deletions
