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Development of haplotype phased genome assembler

Research Project

Project/Area Number 16H04719
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Genome biology
Research InstitutionTokyo Institute of Technology

Principal Investigator

Itoh Takehiko  東京工業大学, 生命理工学院, 教授 (90501106)

Co-Investigator(Kenkyū-buntansha) 豊田 敦  国立遺伝学研究所, ゲノム・進化研究系, 特任教授 (10267495)
梶谷 嶺  東京工業大学, 生命理工学院, 助教 (40756706)
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥16,510,000 (Direct Cost: ¥12,700,000、Indirect Cost: ¥3,810,000)
Fiscal Year 2018: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥6,760,000 (Direct Cost: ¥5,200,000、Indirect Cost: ¥1,560,000)
Keywordsゲノムアセンブラ / ヘテロ接合性 / ゲノムアセンブル / 次世代シークエンサー / ゲノム構築 / ハプロタイプ / ゲノム解析 / アセンブラ
Outline of Final Research Achievements

The ultimate goal for diploid genome determination is to completely decode homologous chromosomes independently, and several phasing programs from consensus sequences have been developed. These methods work well for lowly heterozygous genomes, but the manifold species have high heterozygosity. Additionally, there are highly divergent regions, where the haplotype sequences differ considerably and are likely to relate to various interesting biological phenomena. However, they cannot be accessed by existing phasing methods, and we have to adopt costly traditional methods. Here, we develop a de novo haplotype assembler, Platanus-allee, which initially constructs each haplotype sequence and then untangles the assembly graphs utilizing sequence links and synteny information. A comprehensive benchmark analysis reveals that Platanus-allee exhibits high recall and precision, particularly for highly divergent regions.

Academic Significance and Societal Importance of the Research Achievements

本研究を通じて開発されたPlatanua-alleeアセンブラは、そのアルゴリズムを論文にて公開する一方で、ホームページより利用可能な形のプログラムとして公開している。このプログラムを用いることで、従来はfosmid構築など特別なコストのかかる方法で配列決定をしないとアクセスできなかったようなゲノム領域に対し、安価なIlluminaデータの使用のみで迫ることができるようになったという点で、学術的な意義は極めて大きいと考えられる。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Annual Research Report
  • 2016 Annual Research Report
  • Research Products

    (5 results)

All 2019 2017 2016

All Journal Article (2 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 2 results,  Open Access: 2 results) Presentation (3 results)

  • [Journal Article] Platanus-allee is a de novo haplotype assembler enabling a comprehensive access to divergent heterozygous regions.2019

    • Author(s)
      Kajitani R, Yoshimura D, Okuno M, Minakuchi Y, Kagoshima H, Fujiyama A, Kubokawa K, Kohara Y, Toyoda A, Itoh T
    • Journal Title

      Nat Commun

      Volume: - Issue: 1 Pages: 1702-1702

    • DOI

      10.1038/s41467-019-09575-2

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genome sequence and analysis of the Japanese morning glory Ipomoea nil.2016

    • Author(s)
      Hoshino A, Jayakumar V, Nitasaka E, Toyoda A, Noguchi H, Itoh T, Shin T, Minakuchi Y, Koda Y, Nagano AJ, Yasugi M, Honjo MN, Kudoh H, et al.
    • Journal Title

      Nature Communications

      Volume: 7 Issue: 1 Pages: 132395-132395

    • DOI

      10.1038/ncomms13295

    • NAID

      120005997914

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] PacBioおよびIlluminaシークエンサを用いた新規アセンブル手法の開発2017

    • Author(s)
      番匠康雄,梶谷嶺,伊藤武彦
    • Organizer
      第11回日本ゲノム微生物学会年会
    • Place of Presentation
      慶応義塾大学 湘南藤沢キャンパス
    • Year and Date
      2017-03-02
    • Related Report
      2016 Annual Research Report
  • [Presentation] メタゲノムショットガンデータからの株ハプロタイプ配列構築手法の開発2017

    • Author(s)
      梶谷嶺,小椋義俊,後藤恭宏,吉村大,奥野未来,林哲也,伊藤武彦
    • Organizer
      第11回日本ゲノム微生物学会年会
    • Place of Presentation
      慶応義塾大学 湘南藤沢キャンパス
    • Year and Date
      2017-03-02
    • Related Report
      2016 Annual Research Report
  • [Presentation] Platanus2: a de novo haplotype assembler enabling comprehensive accesses to divergent heterozygous region.2017

    • Author(s)
      梶谷嶺,吉村大,奥野未来,豊田敦,伊藤武彦
    • Organizer
      第6回生命医薬情報学連合大会(IIBMP2017)
    • Related Report
      2017 Annual Research Report

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Published: 2016-04-21   Modified: 2020-03-30  

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