論文

査読有り 国際誌
2019年4月

Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing.

The pharmacogenomics journal
  • Takahiro Mimori
  • Jun Yasuda
  • Yoko Kuroki
  • Tomoko F Shibata
  • Fumiki Katsuoka
  • Sakae Saito
  • Naoki Nariai
  • Akira Ono
  • Naomi Nakai-Inagaki
  • Kazuharu Misawa
  • Keiko Tateno
  • Yosuke Kawai
  • Nobuo Fuse
  • Atsushi Hozawa
  • Shinichi Kuriyama
  • Junichi Sugawara
  • Naoko Minegishi
  • Kichiya Suzuki
  • Kengo Kinoshita
  • Masao Nagasaki
  • Masayuki Yamamoto
  • 全て表示

19
2
開始ページ
136
終了ページ
146
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41397-017-0010-4
出版者・発行元
Springer Nature

Human leukocyte antigen (HLA) is a gene complex known for its exceptional diversity across populations, importance in organ and blood stem cell transplantation, and associations of specific alleles with various diseases. We constructed a Japanese reference panel of class I HLA genes (ToMMo HLA panel), comprising a distinct set of HLA-A, HLA-B, HLA-C, and HLA-H alleles, by single-molecule, real-time (SMRT) sequencing of 208 individuals included in the 1070 whole-genome Japanese reference panel (1KJPN). For high-quality allele reconstruction, we developed a novel pipeline, Primer-Separation Assembly and Refinement Pipeline (PSARP), in which the SMRT sequencing and additional short-read data were used. The panel consisted of 139 alleles, which were all extended from known IPD-IMGT/HLA sequences, contained 40 with novel variants, and captured more than 96.5% of allelic diversity in 1KJPN. These newly available sequences would be important resources for research and clinical applications including high-resolution HLA typing, genetic association studies, and analyzes of cis-regulatory elements.

リンク情報
DOI
https://doi.org/10.1038/s41397-017-0010-4
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29352165
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462828
ID情報
  • DOI : 10.1038/s41397-017-0010-4
  • ISSN : 1470-269X
  • ORCIDのPut Code : 40772460
  • PubMed ID : 29352165
  • PubMed Central 記事ID : PMC6462828

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