HLA-VBSeq v2: improved HLA calling accuracy with full-length Japanese class-I panel

Hum Genome Var. 2019 Jun 19;6:29. doi: 10.1038/s41439-019-0061-y. eCollection 2019.


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.

Keywords: Data publication and archiving; Next-generation sequencing.