Open AccessHLA-VBSeq v2: improved HLA calling accuracy with full-length Japanese class-I panel
Author(s) -
Yen-Yen Wang,
Tsuneyo Mimori,
SeikSoon Khor,
Olivier Gervais,
Yosuke Kawai,
Yuki Hitomi,
Katsushi Tokunaga,
Masao Nagasaki
Publication year - 2019
Publication title -
human genome variation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.796
H-Index - 14
ISSN - 2054-345X
DOI - 10.1038/s41439-019-0061-y
Subject(s) - human leukocyte antigen , allele , genetics , class (philosophy) , hla a , computational biology , biology , computer science , gene , artificial intelligence , antigen
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.