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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

Author

Listed:
  • Masao Nagasaki

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University
    Graduate School of Information Sciences, Tohoku University)

  • Jun Yasuda

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Fumiki Katsuoka

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Naoki Nariai

    (Tohoku Medical Megabank Organization, Tohoku University
    Present address: Institute for Genomic Medicine, University of California, San Diego, 9500 Gilman Drive, La Jolla, California 92093, USA)

  • Kaname Kojima

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Yosuke Kawai

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Yumi Yamaguchi-Kabata

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Junji Yokozawa

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Inaho Danjoh

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Sakae Saito

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Yukuto Sato

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Takahiro Mimori

    (Tohoku Medical Megabank Organization, Tohoku University)

  • Kaoru Tsuda

    (Tohoku Medical Megabank Organization, Tohoku University)

  • Rumiko Saito

    (Tohoku Medical Megabank Organization, Tohoku University)

  • Xiaoqing Pan

    (Tohoku Medical Megabank Organization, Tohoku University
    Present address: National Cancer Center Research Institute, 5-1-1, Tsukiji, Chuo-ku, Tokyo 104-0045, Japan)

  • Satoshi Nishikawa

    (Tohoku Medical Megabank Organization, Tohoku University)

  • Shin Ito

    (Tohoku Medical Megabank Organization, Tohoku University)

  • Yoko Kuroki

    (Tohoku Medical Megabank Organization, Tohoku University
    Present address: National Center for Child Health and Development, National Medical Center for Children and Mothers Research Institute, 2-10-1, Okura, Setagaya-ku, Tokyo 157-8535, Japan)

  • Osamu Tanabe

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Nobuo Fuse

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Shinichi Kuriyama

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University
    International Research Institute of Disaster Science, Tohoku University)

  • Hideyasu Kiyomoto

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Atsushi Hozawa

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Naoko Minegishi

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • James Douglas Engel

    (University of Michigan Medical School)

  • Kengo Kinoshita

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Information Sciences, Tohoku University
    Institute of Development, Aging and Cancer, Tohoku University)

  • Shigeo Kure

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Nobuo Yaegashi

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

  • Masayuki Yamamoto

    (Tohoku Medical Megabank Organization, Tohoku University
    Graduate School of Medicine, Tohoku University)

Abstract

The Tohoku Medical Megabank Organization reports the whole-genome sequences of 1,070 healthy Japanese individuals and construction of a Japanese population reference panel (1KJPN). Here we identify through this high-coverage sequencing (32.4 × on average), 21.2 million, including 12 million novel, single-nucleotide variants (SNVs) at an estimated false discovery rate of

Suggested Citation

  • Masao Nagasaki & Jun Yasuda & Fumiki Katsuoka & Naoki Nariai & Kaname Kojima & Yosuke Kawai & Yumi Yamaguchi-Kabata & Junji Yokozawa & Inaho Danjoh & Sakae Saito & Yukuto Sato & Takahiro Mimori & Kaor, 2015. "Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals," Nature Communications, Nature, vol. 6(1), pages 1-13, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms9018
    DOI: 10.1038/ncomms9018
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    Cited by:

    1. Pei-Kuan Cong & Wei-Yang Bai & Jin-Chen Li & Meng-Yuan Yang & Saber Khederzadeh & Si-Rui Gai & Nan Li & Yu-Heng Liu & Shi-Hui Yu & Wei-Wei Zhao & Jun-Quan Liu & Yi Sun & Xiao-Wei Zhu & Pian-Pian Zhao , 2022. "Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project," Nature Communications, Nature, vol. 13(1), pages 1-15, December.

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