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Enhanced HLA typing performance of Korea Biobank Array with large scale reference panel

Background: In clinical transplantation, increased human leucocyte antigen (HLA) mismatch between donor and recipient were well-known risk factor for graft survival. However, HLA typing in a large scale genome study is not feasible due to high cost. Al-ternatively, HLA alleles can be statistically inferred via HLA imputation from single nucleotide polymorphism (SNP) microarray data. Previously, Korea National Institute of Health (KNIH) designed Korea Biobank Array (KBA), a fully customized SNP microarray for Koreans with 10K HLA regional SNPs as optimal set for imputing HLA alleles. Methods: We assessed HLA typing accuracy of KBA comparing HLA imputed alleles from KBA and HLA typing via high-through-put sequencing. Among Korean Organ Transplantation Registry participants, 254 samples were genotyped using KBA and also HLA typed by HLAaccuTest kit (NGeneBio). For HLA imputation, IMPUTE v4 was used with reference panels of Pan-Asian & Korean (PanREF, n=854) or Han Chinese MHC (HanREF, n=10,689). Accuracy was assessed by comparing four-digit HLA alleles of the imputed and