Article
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals.
Nature communications - 21 Aug 2015
Nagasaki Masao, Yasuda Jun, Katsuoka Fumiki, Nariai Naoki, Kojima Kaname, Kawai Yosuke, Yamaguchi-Kabata Yumi, Yokozawa Junji, Danjoh Inaho, Saito Sakae, Sato Yukuto, Mimori Takahiro, Tsuda Kaoru, Saito Rumiko, Pan Xiaoqing, Nishikawa Satoshi, Ito Shin, Kuroki Yoko, Tanabe Osamu, Fuse Nobuo, Kuriyama Shinichi, Kiyomoto Hideyasu, Hozawa Atsushi, Minegishi Naoko, Douglas Engel James, Kinoshita Kengo, Kure Shigeo, Yaegashi Nobuo, Yamamoto Masayuki
Abstract excerpt
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 <1.0%. This detailed analysis detected...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.