Abstract
HLA-VBSeq is an HLA calling tool developed to infer the most likely HLA types from high-throughput sequencing data. However, there is still room for improvement in specific genetic groups because of the diversity of HLA alleles in human populations. Here, we present HLA-VBSeq v2, a software application that makes use of a new Japanese HLA reference panel to enhance calling accuracy for Japanese HLA class-I genes. Our analysis showed significant improvements in calling accuracy in all HLA regions, with prediction accuracies achieving over 99.0, 97.8, and 99.8% in HLA-A, B and C, respectively.
Highlights
The human leukocyte antigen (HLA) system is located within the 6p21.3 region on chromosome 6 and encodes the major histocompatibility complex (MHC) proteins that are essential to the immune system
We proposed a statistical method that infers the most probable HLA types from high-throughput sequencing data for each individual based on the optimal alignment of reads to the reference HLA sequences 5 and developed a computational tool called HLA-VBSeq[6]
While HLA-VBSeq uses the reference sequences of the IPD-IMGT/HLA Database for the alignment of read sequences, it is still possible to improve the prediction accuracy in specific populations since the allele distribution and haplotype frequencies of HLA genes largely depend on geographic location and genetic group[7,8]
Summary
HLA-VBSeq v2: improved HLA calling accuracy with fulllength Japanese class-I panel. The images or other third party material in this article are included in the article s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article s Creative. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
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