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Study on the data structure of the reference genome graph for handling all human genome variations

Research Project

Project/Area Number 16K12531
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Life / Health / Medical informatics
Research Institution大学共同利用機関法人情報・システム研究機構(機構本部施設等)

Principal Investigator

Katayama Toshiaki  大学共同利用機関法人情報・システム研究機構(機構本部施設等), データサイエンス共同利用基盤施設, 特任助教 (60396869)

Project Period (FY) 2016-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywordsゲノムグラフ / セマンティックウェブ / データベース / アノテーション / ヒトゲノム / セマンティック・ウェブ / データ統合 / ハッカソン / reference genome graph / semantic web / ゲノム / グラフ
Outline of Final Research Achievements

The genome graph is expected to represent multiple genomes as a single graph for accelerating personal genome analysis by dealing with insertion sequences which doesn't exist in the current linear reference genome sequence and handling complex variations of the individual genome sequences. In this study, to integrate genome annotations in the knowledge base and the structure of genome graphs, it is tested to convert both of data into the Resource Description Framework (RDF) and applications such as annotation transfer are made.

Report

(3 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • Research Products

    (13 results)

All 2018 2017 Other

All Int'l Joint Research (4 results) Journal Article (1 results) (of which Open Access: 1 results) Presentation (6 results) (of which Int'l Joint Research: 2 results,  Invited: 1 results) Remarks (1 results) Funded Workshop (1 results)

  • [Int'l Joint Research] Sanger Institute(United Kingdom)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] University of California, Santa Cruz(米国)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] Sanger Institute(United Kingdom)

    • Related Report
      2016 Research-status Report
  • [Int'l Joint Research] University of California, Santa Cruz(米国)

    • Related Report
      2016 Research-status Report
  • [Journal Article] BioHackathon 2017 report2018

    • Author(s)
      片山 俊明
    • Journal Title

      Journal of Information Processing and Management

      Volume: 60 Issue: 10 Pages: 744-747

    • DOI

      10.1241/johokanri.60.744

    • NAID

      130006300728

    • ISSN
      0021-7298, 1347-1597
    • Related Report
      2017 Annual Research Report
    • Open Access
  • [Presentation] Standardization and utilization of pathogenic variant data2018

    • Author(s)
      Toshiaki Katayama
    • Organizer
      3rd International Symposium on BioComplexity,
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] リファレンスのスタンダードはグラフになるか!?2017

    • Author(s)
      片山俊明
    • Organizer
      第5回NGS現場の会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 生命医科学RDFデータの機械学習・人工知能への応用2017

    • Author(s)
      片山俊明
    • Organizer
      人工知能学会全国大会2017
    • Related Report
      2017 Annual Research Report
  • [Presentation] 生命医科学データのRDF化の現状と課題2017

    • Author(s)
      片山俊明
    • Organizer
      第6回生命医薬情報学連合大会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Semantic Web technology accelerates integration of genetic and phenotypic information in biomedical databases2017

    • Author(s)
      Toshiaki Katayama, Shuichi Kawashima, Yasunori Yamamoto
    • Organizer
      American Society of Human Genetics(ASHG)2017
    • Related Report
      2017 Annual Research Report
  • [Presentation] Underlying technologies for integration, sharing, and analysis of data in life sciences2017

    • Author(s)
      Toshiaki Katayama
    • Organizer
      Advanced Genome Science International Symposium
    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Remarks] ゲノムグラフ研究会

    • URL

      http://genomegraph.jp/

    • Related Report
      2017 Annual Research Report
  • [Funded Workshop] RDF summit 32018

    • Related Report
      2017 Annual Research Report

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Published: 2016-04-21   Modified: 2022-06-07  

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