論文

国際誌
2015年8月21日

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

Nature communications
  • 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
  • Masayuki Yamamoto
  • 全て表示

6
開始ページ
8018
終了ページ
8018
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/ncomms9018

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 signatures for purifying selection on regulatory elements as well as coding regions. We also catalogue structural variants, including 3.4 million insertions and deletions, and 25,923 genic copy-number variants. The 1KJPN was effective for imputing genotypes of the Japanese population genome wide. These data demonstrate the value of high-coverage sequencing for constructing population-specific variant panels, which covers 99.0% SNVs of minor allele frequency ≥0.1%, and its value for identifying causal rare variants of complex human disease phenotypes in genetic association studies.

リンク情報
DOI
https://doi.org/10.1038/ncomms9018
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/26292667
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560751
ID情報
  • DOI : 10.1038/ncomms9018
  • PubMed ID : 26292667
  • PubMed Central 記事ID : PMC4560751

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