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Genetic prediction modeling that accounts for correlation structure in large-scale genomic data

Research Project

Project/Area Number 16K00064
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Statistical science
Research InstitutionInstitute of Physical and Chemical Research (2017-2018)
Kurume University (2016)

Principal Investigator

Ueki Masao  国立研究開発法人理化学研究所, 革新知能統合研究センター, 研究員 (10515860)

Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2018: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Keywords遺伝的予測モデル / ゲノムデータの相関構造 / ゲノムワイド関連解析 / 大規模ゲノムデータ / 遺伝子×環境相互作用解析 / 統計遺伝学 / 遺伝疫学 / 遺伝的予測モデリング
Outline of Final Research Achievements

The SNP array and WGS data are ultra-high-dimensional data, which include hundreds of thousands to tens of millions of variants. Mathematical models to accurately estimate the risk of developing a disease is required using such large-scale genomic information. Although screening of variants having an effect on disease is often performed in advance, most methods use a marginal association signal that ignores the correlation structure in genomic data. We developed a method to efficiently extract genetic factors that are difficult to retrieve from marginal screening because of correlation structure due to linkage disequilibrium. In addition, we developed a method that can reduce the computational cost in genome-wide screening.

Academic Significance and Societal Importance of the Research Achievements

SNPアレイやWGSデータなどの網羅的な遺伝情報と生活習慣などの情報を統合し、疾患発症リスクを高精度で算出できれば、個々に最適化された医療(個別化医療)の実現に近づくことができる。しかしながら、これらのゲノム情報は非常に大規模かつ高次元であり、単純な回帰モデルの適用は困難となる。バリアント候補をスクリーニングする次元削減がしばしば行われるが、相関構造を考慮しないことによる予測精度の低下が懸念される。本課題では、相関構造によりスクリーニングにかからないバリアントを利用するための方法を開発した。また、近年のサンプルサイズの大規模化に伴う計算量増大は深刻であるが、統計理論によって高速化を実現した。

Report

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

    (26 results)

All 2019 2018 2017 2016 Other

All Journal Article (8 results) (of which Peer Reviewed: 8 results,  Open Access: 3 results,  Acknowledgement Compliant: 2 results) Presentation (14 results) (of which Int'l Joint Research: 7 results,  Invited: 4 results) Book (3 results) Remarks (1 results)

  • [Journal Article] Growth impairment in individuals with citrin deficiency2019

    • Author(s)
      Numakura Chikahiko、Tamiya Gen、Ueki Masao、Okada Tomoo、Maisawa Shun-ichi、Kojima-Ishii Kanako、Murakami Jun、Horikawa Reiko、Tokuhara Daisuke、Ito Koichi、Adachi Masanori、Abiko Takahiro、Mitsui Tetsuo、Hayasaka Kiyoshi
    • Journal Title

      Journal of Inherited Metabolic Disease

      Volume: 42 Issue: 3 Pages: 501-508

    • DOI

      10.1002/jimd.12051

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Bayesian generalized fused lasso modeling via NEG distribution2019

    • Author(s)
      Shimamura Kaito、Ueki Masao、Kawano Shuichi、Konishi Sadanori
    • Journal Title

      Communications in Statistics - Theory and Methods

      Volume: 印刷中 Issue: 16 Pages: 4132-4153

    • DOI

      10.1080/03610926.2018.1489056

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Outlier detection for questionnaire data in biobanks2019

    • Author(s)
      Sakurai Rieko、Ueki Masao、Makino Satoshi、Hozawa Atsushi、Kuriyama Shinichi、Takai-Igarashi Takako、Kinoshita Kengo、Yamamoto Masayuki、Tamiya Gen
    • Journal Title

      International Journal of Epidemiology

      Volume: 印刷中 Issue: 4 Pages: 1305-1315

    • DOI

      10.1093/ije/dyz012

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ENHANCING POWER OF SCORE TESTS FOR REGRESSION MODELS VIA FISHER TRANSFORMATION2018

    • Author(s)
      Ueki M
    • Journal Title

      Journal of the Japanese Society of Computational Statistics

      Volume: 30 Issue: 2 Pages: 37-53

    • DOI

      10.5183/jjscs.1702001_234

    • NAID

      130007386270

    • ISSN
      0915-2350, 1881-1337
    • Year and Date
      2018-04-20
    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Fast score test with global null estimation regardless of missing genotypes2018

    • Author(s)
      Sato Shuntaro、Ueki Masao、Alzheimer’s Disease Neuroimaging Initiative
    • Journal Title

      PLOS ONE

      Volume: 13 Issue: 7 Pages: e0199692-e0199692

    • DOI

      10.1371/journal.pone.0199692

    • NAID

      120006988007

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods2018

    • Author(s)
      Obara Taku、Ishikuro Mami、Kuriyama Shinichi、et al.
    • Journal Title

      Scientific Reports

      Volume: 8 Issue: 1 Pages: 14840-14840

    • DOI

      10.1038/s41598-018-33110-w

    • URL

      https://pure.teikyo.jp/en/publications/4d831045-f800-4e48-ace3-123ac9447869

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Detecting genetic association through shortest paths in a bidirected graph2017

    • Author(s)
      Ueki M, Kawasaki Y, Tamiya G
    • Journal Title

      Genetic Epidemiology

      Volume: 未定 Issue: 6 Pages: 481-497

    • DOI

      10.1002/gepi.22051

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Smooth-threshold multivariate genetic prediction with unbiased model selection2016

    • Author(s)
      Ueki M, Tamiya G
    • Journal Title

      Genetic Epidemiology

      Volume: 40 Issue: 3 Pages: 233-243

    • DOI

      10.1002/gepi.21958

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Presentation] ゲノムデータ解析の理論と実践2018

    • Author(s)
      植木優夫
    • Organizer
      リスク解析戦略研究センターシンポジウム
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] 全ゲノム配列情報を用いた疾患発症予測に向けて2018

    • Author(s)
      植木優夫
    • Organizer
      科研費研究集会「予測モデリングとその 周辺-機械学習・統計科学・情報理論からのアプローチ-」
    • Related Report
      2018 Annual Research Report
  • [Presentation] 最短経路を利用した遺伝関連解析2018

    • Author(s)
      植木優夫、川崎能典、田宮元
    • Organizer
      「生命・自然科学における複雑現象解明のための統計的アプローチ」
    • Related Report
      2017 Research-status Report
  • [Presentation] 複数遺伝子の複合的効果を考慮したゲノムデータ解析法2017

    • Author(s)
      植木優夫
    • Organizer
      科研費(基盤S)& 第8回生物統計ネットワークシンポジウム 「統計科学が切り拓く個別化医療:方法論・実践のフロンティア」
    • Place of Presentation
      アクロス福岡(福岡)
    • Year and Date
      2017-03-27
    • Related Report
      2016 Research-status Report
    • Invited
  • [Presentation] Rapid and accurate genetic predictive modeling for large-scale genetic study2017

    • Author(s)
      Ueki M
    • Organizer
      ISI-ISM-ISSAS Joint Conference
    • Place of Presentation
      Delhi (India)
    • Year and Date
      2017-02-19
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] 最短経路を利用した遺伝関連解析2017

    • Author(s)
      植木優夫、川崎能典、田宮元
    • Organizer
      科研費研究集会・スパースモデリングの深化と高次元データ駆動科学の創成」 2017 年度第 1 回公開シンポジウム
    • Related Report
      2017 Research-status Report
  • [Presentation] Detecting genetic association through shortest paths in a bidirected graph2017

    • Author(s)
      Ueki M, Kawasaki Y, Tamiya G
    • Organizer
      IFCS2017
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Detecting genetic association through shortest paths in a bidirected graph2017

    • Author(s)
      Ueki M, Kawasaki Y, Tamiya G
    • Organizer
      ISI-ISM-ISSAS Joint Conference Tokyo 2017
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research
  • [Presentation] スパースモデリングによる大規模ゲノムコホート解析2017

    • Author(s)
      植木優夫、田宮元
    • Organizer
      「スパースモデリングの深化と高次元データ駆動科学の創成」最終成果報告会
    • Related Report
      2017 Research-status Report
  • [Presentation] Rapid and accurate genetic predictive modelling for large-scale genetic study2017

    • Author(s)
      Ueki M, Tamiya G
    • Organizer
      IASSL 3rd INTERNATIONAL CONFERENCE
    • Related Report
      2017 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Smooth-threshold multivariate genetic prediction with unbiased model selection2016

    • Author(s)
      Ueki M, Tamiya G
    • Organizer
      Annual Meeting of the American Society for Human Genetics
    • Place of Presentation
      Vancouver (Canada)
    • Year and Date
      2016-10-18
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Smooth-threshold multivariate genetic prediction with unbiased model selection2016

    • Author(s)
      Ueki M, Tamiya G
    • Organizer
      2016 International Conference for JSCS 30th Anniversary in Seattle
    • Place of Presentation
      Seattle(USA)
    • Year and Date
      2016-10-16
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Smooth-threshold multivariate genetic prediction with unbiased model selection2016

    • Author(s)
      Ueki M, Tamiya G
    • Organizer
      The 13th International Congress of Human Genetics
    • Place of Presentation
      Kyoto(Japan)
    • Year and Date
      2016-04-03
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Smooth-threshold multivariate genetic prediction with unbiased model selection2016

    • Author(s)
      植木優夫, 田宮元
    • Organizer
      2016年度公開シンポジウム. 新学術領域研究「スパースモデリングの深化と高次元データ駆動科学の創成」
    • Place of Presentation
      慶應義塾大学(東京)
    • Related Report
      2016 Research-status Report
  • [Book] 新版医学統計学ハンドブック2018

    • Author(s)
      丹後俊郎、松井茂之
    • Total Pages
      868
    • Publisher
      朝倉書店
    • ISBN
      9784254122299
    • Related Report
      2018 Annual Research Report
  • [Book] 遺伝統計学と疾患ゲノムデータ解析 : 病態解明から個別化医療, ゲノム創薬まで2018

    • Author(s)
      岡田 随象
    • Total Pages
      264
    • Publisher
      メディカルドゥ
    • ISBN
      9784944157631
    • Related Report
      2018 Annual Research Report
  • [Book] ゲノムデータ解析2016

    • Author(s)
      冨田誠, 植木優夫
    • Total Pages
      116
    • Publisher
      共立出版
    • Related Report
      2016 Research-status Report
  • [Remarks] stmgp

    • URL

      https://cran.r-project.org/web/packages/stmgp/index.html

    • Related Report
      2016 Research-status Report

URL: 

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

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