論文

査読有り 国際誌
2021年1月11日

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference.

Nature communications
  • Jun Takayama
  • Shu Tadaka
  • Kenji Yano
  • Fumiki Katsuoka
  • Chinatsu Gocho
  • Takamitsu Funayama
  • Satoshi Makino
  • Yasunobu Okamura
  • Atsuo Kikuchi
  • Sachiyo Sugimoto
  • Junko Kawashima
  • Akihito Otsuki
  • Mika Sakurai-Yageta
  • Jun Yasuda
  • Shigeo Kure
  • Kengo Kinoshita
  • Masayuki Yamamoto
  • Gen Tamiya
  • 全て表示

12
1
開始ページ
226
終了ページ
226
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41467-020-20146-8
出版者・発行元
Cold Spring Harbor Laboratory

The complete human genome sequence is used as a reference for next-generation sequencing analyses. However, some ethnic ancestries are under-represented in the reference genome (e.g., GRCh37) due to its bias toward European and African ancestries. Here, we perform de novo assembly of three Japanese male genomes using > 100× Pacific Biosciences long reads and Bionano Genomics optical maps per sample. We integrate the genomes using the major allele for consensus and anchor the scaffolds using genetic and radiation hybrid maps to reconstruct each chromosome. The resulting genome sequence, JG1, is contiguous, accurate, and carries the Japanese major allele at most loci. We adopt JG1 as the reference for confirmatory exome re-analyses of seven rare-disease Japanese families and find that re-analysis using JG1 reduces total candidate variant calls versus GRCh37 while retaining disease-causing variants. These results suggest that integrating multiple genomes from a single population can aid genome analyses of that population.

リンク情報
DOI
https://doi.org/10.1038/s41467-020-20146-8
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/33431880
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7801658
URL
https://syndication.highwire.org/content/doi/10.1101/861658
ID情報
  • DOI : 10.1038/s41467-020-20146-8
  • ISSN : 2041-1723
  • ORCIDのPut Code : 108530433
  • PubMed ID : 33431880
  • PubMed Central 記事ID : PMC7801658

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