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Practical merging DNA typing technology and mathematical interpretation of the typing results towards creation of comprehensive forensic DNA profiles from mixture samples

Research Project

Project/Area Number 16H05273
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Legal medicine
Research InstitutionKyoto University

Principal Investigator

TAMAKI Keiji  京都大学, 医学研究科, 教授 (90217175)

Co-Investigator(Kenkyū-buntansha) 小谷 泰一  京都大学, 医学研究科, 准教授 (20330582)
山田 亮  京都大学, 医学研究科, 教授 (50301106)
Research Collaborator MANABE Sho  
HIRAI Eriko  
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥15,210,000 (Direct Cost: ¥11,700,000、Indirect Cost: ¥3,510,000)
Fiscal Year 2018: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2017: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2016: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
KeywordsDNA多型 / マイクロサテライト / STR / 微量混合試料 / continuous model / DNA多型医学
Outline of Final Research Achievements

In forensic casework, the number of DNA analysis of mixture samples of two or more individuals has rapidly increased. We developed a new software (named as “Kongoh”) which can estimate the likelihood ratio (LR) about contribution of a person of interest (POI) by analyzing DNA typing results from the capillary electrophoresis (CE) based on a continuous model, and validated it by referring to the SWGDAM guidelines. Kongoh showed much higher LR values about a POI’s contribution with those based on other models. Analysis of experimentally generated DNA mixture samples by the high-throughput sequencing (NGS) were also performed whether it can be applied to forensic mixture analysis. The sensitivity of NGS was higher than that of conventional CE although the number of NGS reads differs depending on the locus, and a few loci could not obtain any reads. It is necessary to revise the plug-in software which extracts the exact target STR sequences to improve the accuracy of mixture analysis.

Academic Significance and Societal Importance of the Research Achievements

本研究では急増する複数の人のDNAが混合した試料の検査結果の数学的分析手法として、閾値設定を必要としないコンティニュアスモデルに基づいた新しいソフトウェアを作成し、実験的混合試料などによって検証した。このソフトウェアは自動的に最適な関与人数を推定するというこれまでにない特徴があり、プログラムに馴染みのない人でも使用することができる。また、ウェブ上にソースコードが公開されているので、アルゴリズムの検証ができる。また、次世代シークエンシングを混合試料の解析に初めて試用した。その結果、検出感度は従来法より高い反面、実務応用には課題が残されていることがわかり、今後の研究の方向性を示すことができた。

Report

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

    (20 results)

All 2018 2017 2016 Other

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

  • [Journal Article] 複数回のDNA検査結果を統合した尤度比算出法2018

    • Author(s)
      真鍋翔, 森本千恵, 藤本駿太朗, 濱野悠也, 宮尾昌, 玉木敬二
    • Journal Title

      DNA多型

      Volume: 26(1) Pages: 125-129

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Development and validation of open-source software for DNA mixture interpretation based on a quantitative continuous model.2017

    • Author(s)
      Manabe S, Morimoto C, Hamano Y, Fujimoto S, Tamaki K.
    • Journal Title

      PLOS ONE.

      Volume: 12(11) Issue: 11 Pages: e0188183-e0188183

    • DOI

      10.1371/journal.pone.0188183

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] New stutter ratio distribution for DNA mixture interpretation based on a continuous model2016

    • Author(s)
      Sho Manabe, Yuya Hamano, Chie Morimoto, Chihiro Kawai, Shuntaro Fujimoto, Keiji Tamaki
    • Journal Title

      Legal Medicine

      Volume: 19 Pages: 16-21

    • DOI

      10.1016/j.legalmed.2016.01.007

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] 新しく開発した混合試料分析ソフトウェアの検証-米国NISTによる調査で扱われた複雑な混合試料を用いて-.2016

    • Author(s)
      真鍋翔, 森本千恵, 濱野悠也, 藤本駿太朗, 川合千裕, 小谷泰一, 玉木敬二.
    • Journal Title

      DNA多型

      Volume: 24(1) Pages: 180-185

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Presentation] GlobalFiler 21 ローカスにおける DNA 型の一致率と混合試料の数学的評価について2018

    • Author(s)
      真鍋 翔, 濱保英樹, 小谷泰一, 宮尾 昌, ジェマイル レイラ, 玉木敬二
    • Organizer
      日本DNA多型学会第27回学術集会
    • Related Report
      2018 Annual Research Report
  • [Presentation] わが国のDNA鑑定に関する指針と検討課題2018

    • Author(s)
      玉木 敬二
    • Organizer
      日本DNA多型学会第27回学術集会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] Continuous Modelに基づく混合試料解析ソフトウエアKongohの紹介2018

    • Author(s)
      真鍋 翔
    • Organizer
      日本法科学技術学会第7回法生物学的個人識別における数学的評価法研究会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] ディリクレ分布に基づいた尤度比の信頼区間の導出2018

    • Author(s)
      真鍋 翔, 森本千恵, 藤本駿太朗, 平井瑛里子, 濱野悠也, 玉木敬二
    • Organizer
      日本法科学技術学会第24回学術集会
    • Related Report
      2018 Annual Research Report
  • [Presentation] Comparison of three software for DNA mixture interpretation based on the continuous model2018

    • Author(s)
      Manabe S, Morimoto C, Hamano Y, Hirai E, Fujimoto S, Tamaki K
    • Organizer
      The 29th International Symposium on Human Identification
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Estimating allele frequencies of short tandem repeats using Dirichlet distribution in Japanese population2018

    • Author(s)
      Manabe S, Morimoto C, Fujimoto S, Kotani H, Tamaki K
    • Organizer
      24th Congress of the International Academy of Legal Medicine
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 複数回のDNA検査結果を統合した尤度比算出法.2017

    • Author(s)
      真鍋 翔, 森本千恵, 藤本駿太朗, 濱野悠也, 宮尾 昌, 玉木敬二.
    • Organizer
      日本DNA多型学会第26回学術集会.
    • Related Report
      2017 Annual Research Report
  • [Presentation] 多人数の血縁鑑定における尤度比計算プログラムの開発2017

    • Author(s)
      辻井秀明, 森本千恵, 真鍋 翔, 濱野悠也, 尾関宗孝, 小谷泰一, 玉木敬二.
    • Organizer
      第64回日本法医学会学術近畿地方集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] STR型の出現頻度値を用いた人種推定法の検討.2017

    • Author(s)
      伊藤誠朗, 真鍋 翔, 藤本駿太朗, 尾関宗孝, 小谷泰一, 玉木敬二.
    • Organizer
      第64回日本法医学会学術近畿地方集会.
    • Related Report
      2017 Annual Research Report
  • [Presentation] Continuous modelに基づく血縁者が関与した混合試料の解釈法.2017

    • Author(s)
      真鍋 翔, 森本千恵, 濱野悠也, 藤本駿太朗, 玉木敬二.
    • Organizer
      第23回日本法科学技術学会.
    • Related Report
      2017 Annual Research Report
  • [Presentation] データベースの違いによる Y-STR頻度推定への影響.2017

    • Author(s)
      真鍋 翔, 森本千恵, 川合千裕, 藤本駿太朗, ジェマイル・レイラ, 小谷泰一, 玉木敬二.
    • Organizer
      第101次日本法医学会学術全国集会.
    • Related Report
      2017 Annual Research Report
  • [Presentation] 微量混合試料解析用オープンソースソフトウェアの開発.2016

    • Author(s)
      真鍋 翔, 森本千恵, 濱野悠也, 藤本駿太朗, 玉木敬二.
    • Organizer
      第22回日本法科学技術学会.
    • Place of Presentation
      東京
    • Year and Date
      2016-11-10
    • Related Report
      2016 Annual Research Report
  • [Presentation] Kongoh: Open source software for DNA mixture interpretation based on a continuous model.2016

    • Author(s)
      Manabe S, Morimoto C, Hamano Y, Fujimoto S, Tamaki K.
    • Organizer
      The 27th International Symposium on Human Identification.
    • Place of Presentation
      Minneapolis, United States of America.
    • Year and Date
      2016-09-26
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 現代のDNA鑑定は身元確認、血縁鑑定、犯罪捜査にどこまで有効か.2016

    • Author(s)
      玉木敬二.
    • Organizer
      第64回日本輸血・細胞治療学会.
    • Place of Presentation
      京都
    • Year and Date
      2016-04-28
    • Related Report
      2016 Annual Research Report
    • Invited
  • [Book] DNA鑑定における結果の数学的解釈.2016

    • Author(s)
      玉木敬二.
    • Total Pages
      1
    • Publisher
      日本医事新報
    • Related Report
      2016 Annual Research Report
  • [Remarks] DNA多型の法医学応用と法数学的解釈

    • URL

      http://www.fp.med.kyoto-u.ac.jp/about#re01

    • Related Report
      2017 Annual Research Report

URL: 

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

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