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

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, Kaoru Tsuda, Rumiko Saito, Xiaoqing Pan, Satoshi Nishikawa, Shin Ito, Yoko Kuroki, Osamu Tanabe, Nobuo Fuse, Shinichi Kuriyama, Hideyasu Kiyomoto, Atsushi Hozawa, Naoko Minegishi, James Douglas Engel, Kengo Kinoshita, Shigeo Kure, Nobuo Yaegashi and Masayuki Yamamoto ()
Additional contact information
Masao Nagasaki: Tohoku Medical Megabank Organization, Tohoku University
Jun Yasuda: Tohoku Medical Megabank Organization, Tohoku University
Fumiki Katsuoka: Tohoku Medical Megabank Organization, Tohoku University
Naoki Nariai: Tohoku Medical Megabank Organization, Tohoku University
Kaname Kojima: Tohoku Medical Megabank Organization, Tohoku University
Yosuke Kawai: Tohoku Medical Megabank Organization, Tohoku University
Yumi Yamaguchi-Kabata: Tohoku Medical Megabank Organization, Tohoku University
Junji Yokozawa: Tohoku Medical Megabank Organization, Tohoku University
Inaho Danjoh: Tohoku Medical Megabank Organization, Tohoku University
Sakae Saito: Tohoku Medical Megabank Organization, Tohoku University
Yukuto Sato: Tohoku Medical Megabank Organization, 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
Satoshi Nishikawa: Tohoku Medical Megabank Organization, Tohoku University
Shin Ito: Tohoku Medical Megabank Organization, Tohoku University
Yoko Kuroki: Tohoku Medical Megabank Organization, Tohoku University
Osamu Tanabe: Tohoku Medical Megabank Organization, Tohoku University
Nobuo Fuse: Tohoku Medical Megabank Organization, Tohoku University
Shinichi Kuriyama: Tohoku Medical Megabank Organization, Tohoku University
Hideyasu Kiyomoto: Tohoku Medical Megabank Organization, Tohoku University
Atsushi Hozawa: Tohoku Medical Megabank Organization, Tohoku University
Naoko Minegishi: Tohoku Medical Megabank Organization, Tohoku University
James Douglas Engel: University of Michigan Medical School
Kengo Kinoshita: Tohoku Medical Megabank Organization, Tohoku University
Shigeo Kure: Tohoku Medical Megabank Organization, Tohoku University
Nobuo Yaegashi: Tohoku Medical Megabank Organization, Tohoku University
Masayuki Yamamoto: Tohoku Medical Megabank Organization, Tohoku University

Nature Communications, 2015, vol. 6, issue 1, 1-13

Abstract: 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

Date: 2015
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms9018

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DOI: 10.1038/ncomms9018

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