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A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes

Release:Mar 12, 2021
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Abstract

Conventional human leukocyte antigen (HLA) imputation methods drop their performance for infrequent alleles, which is one of the factors that reduce the reliability of trans-ethnic major histocompatibility complex (MHC) fine-mapping due to inter-ethnic heterogeneity in allele frequency spectra. We develop DEEP*HLA, a deep learning method for imputing HLA genotypes. Through validation using the Japanese and European HLA reference panels (n?=?1,118 and 5,122), DEEP*HLA achieves the highest accuracies with significant superiority for low-frequency and rare alleles. DEEP*HLA is less dependent on distance-dependent linkage disequilibrium decay of the target alleles and might capture the complicated region-wide information. We apply DEEP*HLA to type 1 diabetes GWAS data from BioBank Japan (n?=?62,387) and UK Biobank (n?=?354,459), and successfully disentangle independently associated class I and II HLA variants with shared risk among diverse populations (the top signal at amino acid position 71 of HLA-DRβ1;P?=?7.5 × 10?120). Our study illustrates the value of deep learning in genotype imputation and trans-ethnic MHC fine-mapping.

Article

Title: A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes
Publication: Nature Communications
Author: Tatsuhiko Naito, Ken Suzuki, Jun Hirat, Yoichiro Kamatani, Koichi Matsuda, Tatsushi Tod and Yukinori Okada*
DOI: https://doi.org/10.1038/s41467-021-21975-x
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