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中文摘要
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描述(由申请人提供):生物医学本体的发展取得了巨大的进步,有望对影响人类健康的分子和遗传方面有更深入、更清晰的了解。存储在本体论和数据库中的生物医学数据和知识有可能使生命科学研究人员能够获取和找到可转化为医学诊断和治疗的确凿证据。人们正在花费大量的精力来创建可互操作的本体套件,这些本体可以涵盖生命科学。然而,由现有本体的开发人员创建和整理的广泛的知识编码很少与其他研究人员的信念和假设相互作用。这种无法利用已编纂和已建立的知识的情况阻碍了研究人员利用语义Web技术在计算推理方面所提供的能力。在这个项目中,我们建议开发GeneBel系统作为一个软件解决方案,允许生物学和遗传学研究人员提出假设,并根据多个相互关联的本体中存在的知识体测试和验证这些假设。在所提出的GeneBel系统的核心,信念和假设编码机制允许创建假设作为信念断言,本体生成和对齐组件允许多个本体和数据源的互连,假设验证过程找到证实或反驳假设的本体断言。在项目的第一阶段,具体的信念编码技术和底层的推理和假设验证方法将在原型解决方案中实现,并针对一组预定义的研究场景和假设进行测试。在第二阶段,将构建完整的GeneBel系统,并在遗传学和生物医学研究的实际假设验证中进行评估。
英文摘要
DESCRIPTION (provided by applicant): Dramatic advances in the development of biomedical ontologies hold the promise of a deeper and clearer understanding of the molecular and genetic aspects that affect human health. Biomedical data and knowledge stored in ontologies and databases have the potential to empower researchers in the life sciences to access and find conclusive evidence that can be translated to medical diagnosis and treatment. Enormous effort is being expended to create suites of interoperable ontologies that can encompass the life sciences. However, the extensive knowledge codifications created and curated by the developers of existing ontologies rarely interact with the beliefs and hypotheses postulated by other researchers. This inability to make use of codified and established knowledge hinders the ability of researchers to take advantage of the capabilities afforded by Semantic Web technologies in terms of computational reasoning. In this project, we propose to develop the GeneBel system as a software solution to allow researchers in biology and genetics to postulate hypotheses, and to test and verify these hypotheses against the body of knowledge existing in multiple interconnected ontologies. At the core of the proposed GeneBel system, a belief and hypothesis encoding mechanism permits the creation of hypotheses as belief assertions, an ontology generation and alignment component allows the interconnection of multiple ontologies and data sources, and a process of hypothesis verification finds ontology assertions that either corroborate or contradict hypotheses. In Phase I of the project, the specific belief encoding techniques and underlying reasoning and hypothesis verification methods will be implemented in a prototype solution and tested against a set of predefined research scenarios and hypotheses. During Phase II, the complete GeneBel system will be constructed and evaluated in the execution of real-world hypothesis verification in genetics and biomedical research. PUBLIC HEALTH RELEVANCE: The GeneBel System is a software solution for the management of knowledge and verification of hypotheses focused on genetics research. It uses ontology and computational reasoning methods to create semantic encodings of beliefs, and to find ontology assertions that corroborate or contradict these beliefs.
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Deep-CDS: Deep Learning Semantic Data Lake for Clinical Decision Support
  • 批准号:
    10546333
  • 项目类别:
  • 资助金额:
    $25.35万
  • 财政年份:
    2022
  • 负责人:
    Mansur R. Kabuka
  • 依托单位:
Deep-CDS: Deep Learning Semantic Data Lake for Clinical Decision Support
  • 批准号:
    10747223
  • 项目类别:
  • 资助金额:
    $71.43万
  • 财政年份:
    2022
  • 负责人:
    Mansur R. Kabuka
  • 依托单位:
Microbiome Meta-Analysis Platform
  • 批准号:
    10011865
  • 项目类别:
  • 资助金额:
    $29.38万
  • 财政年份:
    2017
  • 负责人:
    Mansur R. Kabuka
  • 依托单位:
Semantic Data Lake for Biomedical Research
  • 批准号:
    9536289
  • 项目类别:
  • 资助金额:
    $58.97万
  • 财政年份:
    2016
  • 负责人:
    Mansur R. Kabuka
  • 依托单位:
海外基金