TY - JOUR
T1 - HLA-VBSeq v2
T2 - improved HLA calling accuracy with full-length Japanese class-I panel
AU - Wang, Yen Yen
AU - Mimori, Takahiro
AU - Khor, Seik Soon
AU - Gervais, Olivier
AU - Kawai, Yosuke
AU - Hitomi, Yuki
AU - Tokunaga, Katsushi
AU - Nagasaki, Masao
N1 - Publisher Copyright:
© 2019, The Author(s).
PY - 2019/12/1
Y1 - 2019/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85092316254&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85092316254&partnerID=8YFLogxK
U2 - 10.1038/s41439-019-0061-y
DO - 10.1038/s41439-019-0061-y
M3 - Article
AN - SCOPUS:85092316254
SN - 2054-345X
VL - 6
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 29
ER -