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互操作性本体:智能精准医学的基础

Interoperable Ontologies: the Foundation of Intelligent Precision Medicine

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【作者】 何勇群; 谢江安; 万灵; 杨啸林; 朱彦; 周伟; 李元放; 陆伟胜; 吴健民; 刘开永; 王海河; 刘清平; 余红;

【Author】 HE Yongqun;XIE Jiang’an;WAN Ling;YANG Xiaolin;ZHU Yan;ZHOU Wei;LI Yuanfang;LU Weisheng;WU Jianmin;LIU Kaiyong;WANG Haihe;LIU Qingping;YU Hong;University of Michigan Medical School;College of Bioinformatics,Chongqing University of Posts and Telecommunications;Nanjing AngjiWangzhi Network Technology Limited Company;Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences;Institute of Information on Traditional Chinese Medicine,China Academy of Chinese Medical Sciences;The National Population and Health Scientific Data Center;Faculty of Information Technology, Monash University;Center for Cancer Bioinformatics,Peking University Cancer Hospital & Institute;School of Public Health,Anhui Medical University;Daqing Branch of Harbin Medical University;Guangzhou University of Chinese Medicine;Guizhou University Medical College/Guizhou Province People’s Hospital/National Health Commission Key Laboratory of Pulmonary Immune Diseases;

【通讯作者】 余红;

【机构】 University of Michigan Medical School; 重庆邮电大学生物信息学院; 南京昂吉网智网络技术有限公司; 中国医学科学院基础医学研究所; 中国中医科学院中医药信息研究所; 国家人口健康科学数据中心; Faculty of Information Technology Monash University; 北京大学肿瘤医院癌症生物信息学中心; 安徽医科大学公共卫生学院; 哈尔滨医科大学大庆分校; 广州中医药大学; 贵州大学医学院/贵州省人民医院/国家卫生健康委员会肺脏免疫性疾病诊治重点实验室;

【摘要】 近年来,互联网与物联网等技术的快速发展为探寻精准医学与人工智能之间的关联应用提供了战略机遇。然而,如何组织、集成和共享复杂异构的生物医学数据业已成为阻碍该领域发展的严重技术挑战。本体因其能够提供知识与元数据层面的语义基础而推动了生物医学人工智能的发展,而基于互操作性的本体对异构知识与数据的整合和分析发挥着关键性的作用。将人工智能与精准医疗的有机集合称之为智能精准医疗,并提出一个"河马假设",用以阐明互操作性本体与智能精准医疗之间的正相关关系及如何发挥协同增效作用;同时,提出和展示了使用可扩展本体开发的原理和工具来实现本体的互操作性,进而支持智能精准医疗的应用与发展。此外,还对国内外互操作性本体的研究现状、本体中国的成立与发展以及医学伦理在智能精准医疗中的重要性等进行了综述和深入探讨。

【Abstract】 In recent years, the rapid development of technologies such as the Internet and the Internet of Things has provided strategic opportunities for exploring the related applications between precision medicine and Artificial Intelligence(AI).However, there has been a huge technical challenge in organizing, integrating, and sharing complex and heterogeneous biomedical big data.Ontologies promote the development of biomedical AI because they can provide semantic basis at the level of knowledge and metadata.Ontologies based on interoperability play a key role in the integration and analysis of heterogeneous knowledge and data.The combination of AI and precise medicine can be called Intelligent Precision Medicine(IPM).A Hippo Hypothesis is proposed to clarify the positive correlation between the establishment of interoperable ontologies and the achiverment of IPM and how to play.Meanwhile, the principles and tools of extensible ontology development is proposed to realize the interoperability of ontology, thus supporting the development of IPM.At the same time, some examples of interoperable ontologies and their applications in IPM are presented.In addition, the research status of interoperability ontology at home and abroad, the establishment and development of OntoChina, and the importance of medical ethics are also reviewed and discussed.

【基金】 国家自然科学基金青年基金项目“基于本体方法的我国上市甲乙肝疫苗相关不良反应数据挖掘与建模分析”(61801067);重庆市教育委员会科学技术研究重点项目“卡介苗两种用途下相应不良反应信息的本体化表征与建模分析”(KJZD-K202000603);中国医学科学院中央级公益性科研院所基本科研业务费专项资金资助,“国家卫生健康委员会肺脏免疫性疾病诊治重点实验室”建设项目(2019PT320003);中国医学科学院医学与健康科技创新工程项目“生物医学本体支持的通用数据元素表示和应用系统建设”(2018-I2M-AI-009);University of Michigan Medical School Global Reach Fund;Michigan Medicine-Peking University Health Sciences Center Joint Institute for Clinical and Translational Research “Systemic Investigation of the Microbiome-host interactions in H.pylori-associated Gastric Cancer Patients”(U063430,BMU2019JI010);国家重点研发计划精准医学研究专项“疾病表型组-实验组学数据分析、注释与整合”(2017YFC0908404)
  • 【文献出处】 中国医学伦理学 ,Chinese Medical Ethics , 编辑部邮箱 ,2021年03期
  • 【分类号】R-052
  • 【被引频次】2
  • 【下载频次】299
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