Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing

Masao Nagasaki, Yoko Kuroki, Tomoko F. Shibata, Fumiki Katsuoka, Takahiro Mimori, Yosuke Kawai, Naoko Minegishi, Atsushi Hozawa, Shinichi Kuriyama, Yoichi Suzuki, Hiroshi Kawame, Fuji Nagami, Takako Takai-Igarashi, Soichi Ogishima, Kaname Kojima, Kazuharu Misawa, Osamu Tanabe, Nobuo Fuse, Hiroshi Tanaka, Nobuo YaegashiKengo Kinoshita, Shiego Kure, Jun Yasuda, Masayuki Yamamoto

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

In recent genome analyses, population-specific reference panels have indicated important. However, reference panels based on short-read sequencing data do not sufficiently cover long insertions. Therefore, the nature of long insertions has not been well documented. Here, we assembled a Japanese genome using single-molecule real-time sequencing data and characterized insertions found in the assembled genome. We identified 3691 insertions ranging from 100 bps to ~10,000 bps in the assembled genome relative to the international reference sequence (GRCh38). To validate and characterize these insertions, we mapped short-reads from 1070 Japanese individuals and 728 individuals from eight other populations to insertions integrated into GRCh38. With this result, we constructed JRGv1 (Japanese Reference Genome version 1) by integrating the 903 verified insertions, totaling 1,086,173 bases, shared by at least two Japanese individuals into GRCh38. We also constructed decoyJRGv1 by concatenating 3559 verified insertions, totaling 2,536,870 bases, shared by at least two Japanese individuals or by six other assemblies. This assembly improved the alignment ratio by 0.4% on average. These results demonstrate the importance of refining the reference assembly and creating a population-specific reference genome. JRGv1 and decoyJRGv1 are available at the JRG website.

Original languageEnglish
Article number27
JournalHuman Genome Variation
Volume6
Issue number1
DOIs
Publication statusPublished - 2019 Dec 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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    Nagasaki, M., Kuroki, Y., Shibata, T. F., Katsuoka, F., Mimori, T., Kawai, Y., Minegishi, N., Hozawa, A., Kuriyama, S., Suzuki, Y., Kawame, H., Nagami, F., Takai-Igarashi, T., Ogishima, S., Kojima, K., Misawa, K., Tanabe, O., Fuse, N., Tanaka, H., ... Yamamoto, M. (2019). Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing. Human Genome Variation, 6(1), [27]. https://doi.org/10.1038/s41439-019-0057-7