Abstract presentation by Omixon’s Medior Bioinformatician, Lívia Lázár from the latest 14th East-West Immunogenetics Conference (Budapest, Hungary).
As a result of an ongoing effort between multiple Hungarian departments of pediatric haematology, 576 patients’ peripheral blood was collected for meta-analysis between 1990 and 2012. The 576 samples were genotyped for HLA-DRB1 and HLA-DQB1, and were consequently evaluated for a possible association with acute lymphoblastic leukemia (ALL) and hypersensitivity to asparaginase, a drug used in the first line treatment of the disease. In an attempt to gain further insight on haplotype frequencies that may be associated with these conditions, a second analysis was initiated with 254 samples that met the quality criteria for NGS sequencing. The higher precision of typing and the increase in number of targeted loci is expected to narrow down the number of haplotypes that are associated with the conditions in question. The purpose of this study is to demonstrate the efficiency of determining haplotypes with high resolution NGS data, and visualise the key differences of a niche population with well defined phenotypes in comparison to healthy cohorts of various origins.