ontology

本体论
  • 文章类型: Journal Article
    目的:中西医结合临床实践指南(TCM和WM)是辅助医疗决策的重要医学文献,对规范临床路径具有重要意义。然而,由于文本格式的限制,中西医结合CPG很难在医疗实践中发挥真正的作用。此外,如何规范集成中医与WMCPG知识之间的结构和语义关系,并实现可计算的构造,可共享和可靠的CPG,仍然是一个亟待解决的问题。因此,我们正在提出一种用于集成TCM和WM的CPG本体。
    方法:我们首先初始化领域概念和关系,以确保本体知识结构的准确性。然后,我们筛选符合综合TCM和WM标准的CPG,对内容进行了分析和分类,并提取了常见的结构。基于结合推理补充的七步本体构建方法,参考MeSH中术语和概念的表示方法和层次关系,ICD-10,SNOMED-CT,以及其他本体和术语集,我们形成了本体的概念结构和语义关系表。我们还实现了本体与参考本体和术语集之间的匹配和映射。接下来,我们定义了属性的方面和约束,选择多个集成TCM和WMCPG作为要填充的实例,并使用本体推理工具和制定定义的推理规则来推理和扩展本体。最后,我们评估了本体的性能。
    结果:集成TCM和WMCPG的内容分为九个部分:基本信息,背景,开发方法,临床问题,recommendation,证据,结论,结果,以及提出建议的理由。集成的TCM和WMCPG本体有152个类,定义了90个对象属性和114个数据属性,最大分类深度为4层。疾病的术语,本体论中的药品和检查项目名称已经标准化。
    结论:本研究提出了一种整合的TCM和WMCPG本体。本体采用模块化设计,具有共享和扩展能力,并能表达丰富的指导性知识。它为指南文档的语义处理和计算应用提供了重要支持。
    OBJECTIVE: Clinical practice guidelines (CPGs) for Integrated Traditional Chinese and Western Medicine (TCM and WM) are important medical documents used to assist medical decision-making and are of great significance for standardizing clinical pathways. However, due to the constraints of text format, it is difficult for Integrated TCM and WM CPGs to play a real role in medical practice. In addition, how to standardize the structure and semantic relationships between Integrated TCM and WM CPG knowledge, and realize the construction of computable, sharable and reliable CPGs, remains an urgent issue to be addressed. Therefore, we are proposing an ontology of CPGs for Integrated TCM and WM.
    METHODS: We first initialized domain concepts and relationships to ensure the accuracy of the ontology knowledge structure. We then screened CPGs that meet the standards for Integrated TCM and WM, analyzed and classified the contents, and extracted the common structures. Based on the seven-step ontology construction method combined with inference-complement, referring to the representation methods and hierarchical relationships of terms and concepts in MeSH, ICD-10, SNOMED-CT, and other ontologies and terminology sets, we formed the concept structure and semantic relationship tables for the ontology. We also achieved the matching and mapping between the ontology and reference ontologies and term sets. Next, we defined the aspects and constraints of properties, selected multiple Integrated TCM and WM CPGs as instances to populate, and used ontology reasoning tools and formulated defined inference rules to reason and extend the ontology. Finally, we evaluated the performance of the ontology.
    RESULTS: The content of the Integrated TCM and WM CPGs is divided into nine parts: basic information, background, development method, clinical question, recommendation, evidence, conclusion, result, and reason for recommendations. The Integrated TCM and WM CPG ontology has 152 classes and defines 90 object properties and 114 data properties, with a maximum classification depth of 4 layers. The terms of disease, drug and examination item names in the ontology have been standardized.
    CONCLUSIONS: This study proposes an Integrated TCM and WM CPG ontology. The ontology adopts a modular design, which has both sharing and scaling ability, and can express rich guideline knowledge. It provides important support for the semantic processing and computational application of guideline documents.
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  • 文章类型: Journal Article
    技术仍然沉浸在我们的日常生活中,并且由于其在临床实践中的持续存在和快速的技术扩散;护士检查与护理学科相关的技术到认识论变得很重要。考虑到技术与护理的交叉仍然是一个正在进行的讨论领域,这表明需要进一步的哲学反思,这一点至关重要。为此,本文试图从工程和人文学科的角度研究技术哲学,以促进有关其与护理认识论交叉的讨论。虽然技术似乎一直存在于护理实践中,突出了反映爱恨关系的两个相反观点:技术乐观主义(促进技术)和技术浪漫主义(劝阻技术)。根据米切姆对“相互关系”和“与”的解释,打破二元观点的一种潜在方法是将技术与护理之间的交集/关系视为连续体,而不是完全单一的实体。关怀被呈现为反映行动和态度的多维。可以说,一些关怀行动可能与工程观点相交,表明技术可以支持护士在他们的角色,也就是说,通过模仿一些护士的工作,但不能取代它们。从人文的角度来看,技术被呈现为人类对技术所提供的东西进行控制的一种方式。放在一起,显然是时候摆脱护理和技术之间的爱恨关系了。尽管这强调了建立护士技术能力的巨大需求,更需要护士反思和表达认识论,本体论,axiological,以及技术应用为该学科带来的伦理问题。
    Technology remains enmeshed in our daily lives and given its continuing presence in clinical practice and rapid technological proliferation; it becomes relevant for nurses to examine techno-onto-epistemology in relation to the discipline of nursing. This is critical considering the intersection of technology and nursing remains an area of ongoing discussion revealing a need for further philosophical reflection. To this end, this paper sought to examine the philosophy of technology from the engineering and humanities perspectives to contribute to the discussion regarding its intersection with the onto-epistemology of nursing. Although technology seems to be constantly present in nursing practice, two opposing perspectives reflecting a love-hate relationship is highlighted: technological optimism (promotes technology) and technological romanticism (dissuades technology). Based on Mitcham\'s interpretation of \'mutual relationship\' and \'being-with\', a potential way to break away from the binary perspectives is to view the intersection of/relationship between technology and nursing as being on a continuum rather than entirely monolithic entities. Caring is presented as multidimensional reflecting actions and attitudes. Arguably, some caring actions may intersect with the engineering perspective to suggest that technology can support nurses in their roles, that is, by imitating some of what nurses do, but not to replace them. From the humanities perspective, technology is presented as a way of being with humans exercising control over what technology has to offer. Put together, it is clearly time to break away from the love-hate relationship between nursing and technology. Although this emphasises a great need to build the technological competency of nurses, there is an even greater call for nurses to reflect on and voice the epistemological, ontological, axiological, and ethical issues that the application of technology raises for the discipline.
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  • 文章类型: Journal Article
    背景:医学知识图谱提供了可解释的决策支持,帮助临床医生提供及时的诊断和治疗建议。然而,在现实世界的临床实践中,患者前往不同的医院寻求各种医疗服务,导致不同医院的患者数据分散。由于数据安全问题,数据碎片化限制了知识图的应用,因为单医院数据无法为生成精确的决策支持和全面的解释提供完整的证据。研究知识图谱系统多中心集成的新方法,信息敏感的医疗环境,使用零散的患者记录进行决策支持,同时保持数据隐私和安全性。
    目的:本研究旨在提出一种面向电子健康记录(EHR)的知识图谱系统,用于与多中心零散的患者医疗数据进行协作推理,同时保护数据隐私。
    方法:该研究引入了EHR知识图谱框架和新的协作推理过程,用于利用多中心碎片信息。该系统部署在每个医院中,并使用统一的语义结构和观察医疗结果伙伴关系(OMOP)词汇来标准化本地EHR数据集。该系统将本地EHR数据转换为语义格式并执行语义推理以生成中间推理结果。生成的中间发现使用hypernym概念来分离原始医疗数据。中间发现和哈希加密的患者身份通过区块链网络进行同步。多中心中间发现进行了最终推理和临床决策支持,而无需收集原始EHR数据。
    结果:通过一项应用研究对该系统进行了评估,该研究涉及利用多中心片段化的EHR数据来提醒非肾脏病临床医生注意被忽略的慢性肾脏病(CKD)患者。该研究涵盖了3家医院的非肾病科1185名患者。患者至少访问了两家医院。其中,通过使用多中心EHR数据进行协作推理,确定124例患者符合CKD诊断标准,而单独来自个别医院的数据不能促进这些患者CKD的识别.临床医生的评估表明,78/91(86%)患者为CKD阳性。
    结论:所提出的系统能够有效地利用多中心片段化的EHR数据进行临床应用。应用研究显示了该系统具有迅速和全面的决策支持的临床优势。
    BACKGROUND: The medical knowledge graph provides explainable decision support, helping clinicians with prompt diagnosis and treatment suggestions. However, in real-world clinical practice, patients visit different hospitals seeking various medical services, resulting in fragmented patient data across hospitals. With data security issues, data fragmentation limits the application of knowledge graphs because single-hospital data cannot provide complete evidence for generating precise decision support and comprehensive explanations. It is important to study new methods for knowledge graph systems to integrate into multicenter, information-sensitive medical environments, using fragmented patient records for decision support while maintaining data privacy and security.
    OBJECTIVE: This study aims to propose an electronic health record (EHR)-oriented knowledge graph system for collaborative reasoning with multicenter fragmented patient medical data, all the while preserving data privacy.
    METHODS: The study introduced an EHR knowledge graph framework and a novel collaborative reasoning process for utilizing multicenter fragmented information. The system was deployed in each hospital and used a unified semantic structure and Observational Medical Outcomes Partnership (OMOP) vocabulary to standardize the local EHR data set. The system transforms local EHR data into semantic formats and performs semantic reasoning to generate intermediate reasoning findings. The generated intermediate findings used hypernym concepts to isolate original medical data. The intermediate findings and hash-encrypted patient identities were synchronized through a blockchain network. The multicenter intermediate findings were collaborated for final reasoning and clinical decision support without gathering original EHR data.
    RESULTS: The system underwent evaluation through an application study involving the utilization of multicenter fragmented EHR data to alert non-nephrology clinicians about overlooked patients with chronic kidney disease (CKD). The study covered 1185 patients in nonnephrology departments from 3 hospitals. The patients visited at least two of the hospitals. Of these, 124 patients were identified as meeting CKD diagnosis criteria through collaborative reasoning using multicenter EHR data, whereas the data from individual hospitals alone could not facilitate the identification of CKD in these patients. The assessment by clinicians indicated that 78/91 (86%) patients were CKD positive.
    CONCLUSIONS: The proposed system was able to effectively utilize multicenter fragmented EHR data for clinical application. The application study showed the clinical benefits of the system with prompt and comprehensive decision support.
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  • 文章类型: Journal Article
    数字校准证书(DCC)是计量数字化的关键焦点,必须满足机器可读性和可理解性的标准。当前的DCC是机器可读的,但是他们仍然缺少机器可理解性所需的基本语义信息。这种不足在缺乏用于测量术语的专用语义本体中尤为明显。本文提出了一种用于测量术语的领域本体,称为OMT(用于测量术语的本体),使用国际计量学词汇(VIM)等标准的计量术语基础,测量不确定度表达指南(GUM),和JJF1001。它还包含了来自SI参考点等模型的见解,简单知识组织系统(SKOS),和DCC架构。该方法以斯坦福大学的七步法为指导,确保系统的开发过程适合计量语义的需要。通过语义表达能力验证和SPARQL查询验证,OMT已被确认具有基本的机器可读性和可理解性特征。它已成功地集成到跨十个代表性域的DCC的3.2.1版本中。这种集成展示了一种有效的方法,可以确保DCC是机器可读的,并且能够在数字环境中进行互操作。从而推进计量数字化研究。
    Digital Calibration Certificates (DCCs) are a key focus in metrology digitalization, necessitating that they satisfy the criteria for machine readability and understandability. Current DCCs are machine-readable, but they are still missing the essential semantic information required for machine understandability. This shortfall is particularly notable in the lack of a dedicated semantic ontology for measurement terminologies. This paper proposes a domain ontology for measurement terminologies named the OMT (Ontology for Measurement Terminology), using a foundation of metrological terms from standards like the International Vocabulary of Metrology (VIM), the Guide to the Expression of Uncertainty in Measurement (GUM), and JJF1001. It also incorporates insights from models such as the SI Reference Point, the Simple Knowledge Organization System (SKOS), and the DCC Schema. The methodology was guided by Stanford\'s Seven-Step Method, ensuring a systematic development process tailored to the needs of metrological semantics. Through semantic expression capability verification and SPARQL query validations, the OMT has been confirmed to possess essential machine readability and understandability features. It has been successfully integrated into version 3.2.1 of DCCs across ten representative domains. This integration demonstrates an effective method for ensuring that DCCs are machine-readable and capable of interoperating within digital environments, thereby advancing the research in metrology digitization.
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  • 文章类型: Journal Article
    近年来,机器人的感知能力得到了显著增强。然而,在非结构化和动态环境中,机器人的任务执行仍然缺乏自适应能力。
    在本文中,我们提出了一个基于本体的自主机器人任务处理框架(ARTProF),以提高机器人在非结构化和动态环境中的适应性。ARTProF统一了本体论知识表示,推理,和自主的任务计划和执行到一个单一的框架。首先在ARTProF中引入了知识库和基于神经网络的对象检测之间的接口,以提高机器人的感知能力。然后设计了基于机器人操作系统(ROS)的知识驱动的操作算子,以促进知识库与机器人的原始动作之间的交互。此外,提出了一种操作相似性模型,以赋予机器人对新对象的泛化能力。最后,动态任务规划算法,利用本体论知识,使机器人具有在非结构化和动态环境中执行任务的适应性。
    实际场景和仿真的实验结果证明了所提出的ARTProF框架的有效性和效率。
    在今后的工作中,我们将通过整合神经符号推理来专注于完善ARTProF框架。
    UNASSIGNED: In recent years, the perceptual capabilities of robots have been significantly enhanced. However, the task execution of the robots still lacks adaptive capabilities in unstructured and dynamic environments.
    UNASSIGNED: In this paper, we propose an ontology based autonomous robot task processing framework (ARTProF), to improve the robot\'s adaptability within unstructured and dynamic environments. ARTProF unifies ontological knowledge representation, reasoning, and autonomous task planning and execution into a single framework. The interface between the knowledge base and neural network-based object detection is first introduced in ARTProF to improve the robot\'s perception capabilities. A knowledge-driven manipulation operator based on Robot Operating System (ROS) is then designed to facilitate the interaction between the knowledge base and the robot\'s primitive actions. Additionally, an operation similarity model is proposed to endow the robot with the ability to generalize to novel objects. Finally, a dynamic task planning algorithm, leveraging ontological knowledge, equips the robot with adaptability to execute tasks in unstructured and dynamic environments.
    UNASSIGNED: Experimental results on real-world scenarios and simulations demonstrate the effectiveness and efficiency of the proposed ARTProF framework.
    UNASSIGNED: In future work, we will focus on refining the ARTProF framework by integrating neurosymbolic inference.
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  • 文章类型: Journal Article
    背景:育龄妇女癫痫的有效治疗需要多学科团队的共同努力。然而,在这种情况下,医疗保健提供者之间的无缝知识交流存在不足。因此,必须提高信息学资源的可用性和决策支持工具的开发,以全面解决这一问题。
    方法:育龄妇女癫痫本体论(WWECA)的发展遵循既定的本体论构建原则。本体的范围和通用术语最初由开发团队建立,随后通过涉及领域专家的快速Delphi共识练习进行外部评估。其他实体和属性注释数据来自相应领域内的权威准则文件和专业术语数据库。此外,本体在指导创建在线问答系统方面发挥了关键作用,这是积极采用和评估的多元化的多学科的医疗保健提供者。
    结果:WWECA成功整合了总共609个实体,涵盖了与患有癫痫的育龄妇女的诊断和药物治疗有关的各个方面。本体在其层次结构中表现出8的最大深度。这些实体中的每一个都具有三个基本属性,即中文标签,定义,和同义词。WWECA的评估涉及来自中国10家不同医院的35名专家,在专家之间达成了良好的共识。此外,本体驱动的在线问答系统经过了由10名专家组成的小组的评估,包括神经学家,产科医生,妇科医生。该评估的平均评分为4.2,这表明该系统的实用性和有效性得到了积极的接受和认可。
    结论:我们的本体论和相关的在线问答系统具有作为从事女性癫痫(WWE)管理的医疗保健提供者的可扩展助手的潜力。在未来,这一发展框架有可能在更复杂的慢性健康状况的长期管理中得到更广泛的应用.
    BACKGROUND: The effective management of epilepsy in women of child-bearing age necessitates a concerted effort from multidisciplinary teams. Nevertheless, there exists an inadequacy in the seamless exchange of knowledge among healthcare providers within this context. Consequently, it is imperative to enhance the availability of informatics resources and the development of decision support tools to address this issue comprehensively.
    METHODS: The development of the Women with Epilepsy of Child-Bearing Age Ontology (WWECA) adhered to established ontology construction principles. The ontology\'s scope and universal terminology were initially established by the development team and subsequently subjected to external evaluation through a rapid Delphi consensus exercise involving domain experts. Additional entities and attribute annotation data were sourced from authoritative guideline documents and specialized terminology databases within the respective field. Furthermore, the ontology has played a pivotal role in steering the creation of an online question-and-answer system, which is actively employed and assessed by a diverse group of multidisciplinary healthcare providers.
    RESULTS: WWECA successfully integrated a total of 609 entities encompassing various facets related to the diagnosis and medication for women of child-bearing age afflicted with epilepsy. The ontology exhibited a maximum depth of 8 within its hierarchical structure. Each of these entities featured three fundamental attributes, namely Chinese labels, definitions, and synonyms. The evaluation of WWECA involved 35 experts from 10 different hospitals across China, resulting in a favorable consensus among the experts. Furthermore, the ontology-driven online question and answer system underwent evaluation by a panel of 10 experts, including neurologists, obstetricians, and gynecologists. This evaluation yielded an average rating of 4.2, signifying a positive reception and endorsement of the system\'s utility and effectiveness.
    CONCLUSIONS: Our ontology and the associated online question and answer system hold the potential to serve as a scalable assistant for healthcare providers engaged in the management of women with epilepsy (WWE). In the future, this developmental framework has the potential for broader application in the context of long-term management of more intricate chronic health conditions.
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  • 文章类型: Journal Article
    疾病本体促进了特定领域知识的语义组织和表示。在前列腺癌(PCa)的情况下,大量的研究成果和临床数据已经积累,需要标准化以共享和转化研究。与PCa相关的知识的正式表示对于各种数据标准化至关重要,数据共享和未来知识图谱提取,深度表型和可解释的人工智能发展。在这项研究中,基于本体开发生命周期构建了更新的PCa本体(PCAO2)。设计了一个在线信息检索系统,以确保本体的可用性。具有基于子类的分类层次结构的PCAO2涵盖了与PCa相关的基因型的主要生物医学概念,表型和生活方式数据。当前版本的PCAO2包含在三个生物医学观点下组织的633个概念,即,流行病学,诊断和治疗。这些概念通过增加定义而得到了丰富,同义词,关系和参考。为了精确的诊断和治疗,从PCa流行病学的角度来看,PCa相关基因和生活方式得到了整合。PCAO2为研究大量异构PCa数据和知识提供了标准化和系统化的语义框架,这可以进一步,由科学界编辑和丰富。PCAO2可在https://bioportal免费获得。bioontology.org/ontologies/PCAO,http://pcaontology.net/和http://pcaontology.net/mobile/。
    Disease ontologies facilitate the semantic organization and representation of domain-specific knowledge. In the case of prostate cancer (PCa), large volumes of research results and clinical data have been accumulated and needed to be standardized for sharing and translational researches. A formal representation of PCa-associated knowledge will be essential to the diverse data standardization, data sharing and the future knowledge graph extraction, deep phenotyping and explainable artificial intelligence developing. In this study, we constructed an updated PCa ontology (PCAO2) based on the ontology development life cycle. An online information retrieval system was designed to ensure the usability of the ontology. The PCAO2 with a subclass-based taxonomic hierarchy covers the major biomedical concepts for PCa-associated genotypic, phenotypic and lifestyle data. The current version of the PCAO2 contains 633 concepts organized under three biomedical viewpoints, namely, epidemiology, diagnosis and treatment. These concepts are enriched by the addition of definition, synonym, relationship and reference. For the precision diagnosis and treatment, the PCa-associated genes and lifestyles are integrated in the viewpoint of epidemiological aspects of PCa. PCAO2 provides a standardized and systematized semantic framework for studying large amounts of heterogeneous PCa data and knowledge, which can be further, edited and enriched by the scientific community. The PCAO2 is freely available at https://bioportal.bioontology.org/ontologies/PCAO, http://pcaontology.net/ and http://pcaontology.net/mobile/.
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  • 文章类型: Journal Article
    个人健康知识图谱(PHKG)有助于有效整合来自患者电子健康记录的潜在诊断线索与医学知识,建立诊断推理路径并确保准确,在盆腔肿块的诊断中可单独解释的结果。
    A Personal Health Knowledge Graph (PHKG) facilitates the efficient integration of potential diagnostic clues from patients\' electronic health records with medical knowledge, establishing diagnostic reasoning paths and ensuring accurate, individually interpretable results in the diagnosis of pelvic masses.
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  • 文章类型: Journal Article
    背景:生物学研究正在产生大量分布在各种来源的数据。蛋白质及其编码基因的命名不一致给蛋白质数据整合带来巨大挑战:蛋白质及其编码基因通常具有多个相关的名称和符号,很难绝对匹配;基因和蛋白质的命名法很复杂,并且因物种而异;一些研究较少的物种没有基因和蛋白质的命名法;同一蛋白质/基因的注释在不同的数据库中差异很大。总之,相关研究需要一套全面的蛋白质/基因同义词。
    结果:在这项研究中,提出了一种基于蛋白质本体论的蛋白质及其编码基因同义词整合方法。蛋白质和基因同义词集成的工作流程由三个模块组成:数据采集、实体和属性对齐,属性集成和重复数据删除。最后,蛋白质及其编码基因的整合同义词集包含超过1.2859亿个术语,涵盖560,275个蛋白质/基因和13,781个物种。作为语义基础,综合同义词集用于开发数据平台,以提供一站式数据检索,而无需考虑蛋白质命名法和物种的多样性。
    结论:这里构造的同义词集可以作为生物命名实体识别的重要资源,没有名称歧义的文本挖掘和信息检索,特别是与明确定义的物种类别相关的同义词可以帮助在分子水平上研究物种之间的进化关系。更重要的是,综合同义词集是我们后续研究蛋白质-蛋白质相互作用(PPI)知识图的语义基础。
    BACKGROUND: Biological research is generating high volumes of data distributed across various sources. The inconsistent naming of proteins and their encoding genes brings great challenges to protein data integration: proteins and their coding genes usually have multiple related names and notations, which are difficult to match absolutely; the nomenclature of genes and proteins is complex and varies from species to species; some less studied species have no nomenclature of genes and proteins; The annotation of the same protein/gene varies greatly in different databases. In summary, a comprehensive set of protein/gene synonyms is necessary for relevant studies.
    RESULTS: In this study, we propose an approach for protein and its encoding gene synonym integration based on protein ontology. The workflow of protein and gene synonym integration is composed of three modules: data acquisition, entity and attribute alignment, attribute integration and deduplication. Finally, the integrated synonym set of proteins and their coding genes contains over 128.59 million terminologies covering 560,275 proteins/genes and 13,781 species. As the semantic basis, the comprehensive synonym set was used to develop a data platform to provide one-stop data retrieval without considering the diversity of protein nomenclature and species.
    CONCLUSIONS: The synonym set constructed here can serve as an important resource for biological named entity identification, text mining and information retrieval without name ambiguity, especially synonyms associated with well-defined species categories can help to study the evolutionary relationships between species at the molecular level. More importantly, the comprehensive synonyms set is the semantic basis for our subsequent studies on Protein-protein Interaction (PPI) knowledge graph.
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  • 文章类型: English Abstract
    Objective To develop a traceable cancer hallmark ontology with terminology including gene mutation,cancer hallmark,and cell line for knowledge integration,standardization,correlation,and discovery.Methods The Ontology Development 101 and the current ontology development methods were employed to determine the content coverage,structural layers,reusable terms,and new terms of the cancer hallmark ontology.Taking colorectal cancer as a study case,we extracted the knowledge related with colorectal cancer hallmarks using text mining and text classification technology from PubMed,and then formalized the extracted knowledge into the cancer hallmark ontology.Moreover,we made use of existing cancer hallmark evidence in Catalogue of Somatic Mutations in Cancer and further semantic retrieval to discover new knowledge.Results The established cancer hallmark ontology comprised 9910 classes and 6138 instances,which realized the semantic representation of 2310 article abstracts about colorectal cancer and 26 pieces of evidence about genes and their cancer hallmarks.Compared with the Catalogue of Somatic Mutations in Cancer,new evidence for more genes associated with colorectal cancer hallmarks was found based on cancer hallmark ontology.Conclusion This study is of great significance to the research on the cancer pathogenesis at the molecular level,the revealing of specific roles of genes and mutations in the occurrence of cancer,and the rapid knowledge discovery of cancer hallmarks.
    目的 构建一种可溯源的癌症标志知识本体,支持基因突变、癌症标志和细胞系等相关数据整合、标准化和关联,并基于该本体实现新知识发现。方法 基于“七步法”和现阶段本体的构建方法,明确癌症标志本体覆盖范围、框架结构、可复用的术语和新增术语;以结直肠癌为例,利用文本挖掘和文本分类技术对PubMed文献中结直肠癌标志相关知识进行提取,利用癌症标志本体对提取的知识进行规范化表达。结合癌症体细胞突变目录中已有的癌症标志证据和进一步语义检索,实现新知识的发现。结果 最终构建癌症标志本体包含类9910个,实例6138个,实现2310篇涉及结直肠癌标志文献摘要和26个结直肠癌标志相关证据的语义表示。与癌症体细胞突变目录数据集相比,本研究发现与结直肠癌相关的多个基因的癌症标志的新证据。结论 本研究有助于整合癌症分子层面的致病机制,了解基因突变在癌症发生过程中的具体作用,实现癌症标志知识的快速发现。.
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