Development of ontological representation for disease and cohort information

2018 Fiscal Year Final Research Report

• Project/Area Number: 15K00295
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Intelligent informatics
• Research Institution: Tohoku University
• Principal Investigator: Takai Takako (五十嵐貴子) 東北大学, 東北メディカル・メガバンク機構, 非常勤講師 (60222840)
• Project Period (FY): 2015-04-01 – 2019-03-31
• Keywords: オントロジー / ゲノムコホート / 個別化予防

Outline of Final Research Achievements

An ontology was developed to provide explicit definitions of biomedical concepts obtained in the research on the personalized genome medicine. The concepts of processes and causal relationships are mostly investigated in this study. An ontology based on the axiom theory was firstly constructed in an application of Basic Formal Ontology. Another ontology based on the rule-concept theory was developed in order to specify the roles of individual concepts in their causal relationships to the disease onset and progression. The role-concept theory has an advantage in computation of causal mechanisms among biomedical concepts observed in genome based cohort studies.

Free Research Field

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Academic Significance and Societal Importance of the Research Achievements

オントロジーは、人間が共有する背景知識を計算機で利用できるよう、演算処理を可能としたものである。個人のゲノム配列情報を利用して個々人の生得の体質に基づく医療の提供を目指すゲノム医療の実現には、疾患、症状、検査、医薬品、生活習慣、栄養、社会活動、等の人間生活を取り巻く様々なデータを解釈するための背景知識を計算機で利用可能とするオントロジーの開発が必要とされている。