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
- 巻
- 19
- 号
- 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
- 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