HLA-VBSeq v2：使用全长日本I类样本库提高HLA分型准确性。
HLA-VBSeq v2: improved HLA calling accuracy with full-length Japanese class-I panel.
作者信息
Wang Yen-Yen, Mimori Takahiro, Khor Seik-Soon, Gervais Olivier, Kawai Yosuke, Hitomi Yuki, Tokunaga Katsushi, Nagasaki Masao
机构信息
1Graduate School of Information Sciences, Tohoku University, Sendai, Miyagi Japan.
2Tohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi Japan.
出版信息
Hum Genome Var. 2019 Jun 19;6:29. doi: 10.1038/s41439-019-0061-y. eCollection 2019.
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.
摘要
HLA-VBSeq是一种开发用于从高通量测序数据中推断最可能的HLA类型的HLA分型工具。然而，由于人类群体中HLA等位基因的多样性，在特定遗传群体中仍有改进的空间。在此，我们展示了HLA-VBSeq v2，这是一款利用新的日本HLA参考面板来提高日本HLA-I类基因分型准确性的软件应用程序。我们的分析表明，所有HLA区域的分型准确性都有显著提高，HLA-A、B和C的预测准确率分别达到了99.0%、97.8%和99.8%以上。
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