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Human Development Domain of the Ontology of Craniofacial Development and Malformation. 颅面发育和畸形本体的人类发展领域。
Pub Date : 2013-07-01
Jose Lv Mejino, Ravensara S Travillian, Timothy C Cox, Linda G Shapiro, James F Brinkley

In this paper we describe an ontological scheme for representing anatomical entities undergoing morphological transformation and changes in phenotype during prenatal development. This is a proposed component of the Anatomical Transformation Abstraction (ATA) of the Foundational Model of Anatomy (FMA) Ontology that was created to provide an ontological framework for capturing knowledge about human development from the zygote to postnatal life. It is designed to initially describe the structural properties of the anatomical entities that participate in human development and then enhance their description with developmental properties, such as temporal attributes and developmental processes. This approach facilitates the correlation and integration of the classical but static representation of embryology with the evolving novel concepts of developmental biology, which primarily deals with the experimental data on the mechanisms of embryogenesis and organogenesis. This is important for describing and understanding the underlying processes involved in structural malformations. In this study we focused on the development of the lips and the palate in conjunction with our work on the pathogenesis and classification of cleft lip and palate (CL/P) in the FaceBase program. Our aim here is to create the Craniofacial Human Development Ontology (CHDO) to support the Ontology of Craniofacial Development and Malformation (OCDM), which provides the infrastructure for integrating multiple and disparate craniofacial data generated by FaceBase researchers.

在本文中,我们描述了一个本体论方案,以表示在产前发育过程中经历形态转化和表型变化的解剖实体。这是解剖学基础模型(FMA)本体的解剖转换抽象(ATA)的一个组成部分,它的创建是为了提供一个本体框架,以获取关于人类从受精卵到出生后生活的发展知识。它的目的是首先描述参与人类发育的解剖实体的结构属性,然后用发育属性(如时间属性和发育过程)增强它们的描述。这种方法促进了胚胎学经典但静态的表述与发展生物学新概念的关联和整合,这些新概念主要涉及胚胎发生和器官发生机制的实验数据。这对于描述和理解与结构畸形相关的潜在过程非常重要。在这项研究中,我们将重点放在嘴唇和上颚的发育上,并结合我们在FaceBase程序中对唇腭裂(CL/P)的发病机制和分类的研究。我们的目标是创建颅面人类发展本体(CHDO)来支持颅面发育和畸形本体(OCDM),后者为整合由FaceBase研究人员生成的多种不同的颅面数据提供基础设施。
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引用次数: 0
Towards a Consistent and Scientifically Accurate Drug Ontology. 实现一致且科学准确的药物本体论。
Pub Date : 2013-01-01
William R Hogan, Josh Hanna, Eric Joseph, Mathias Brochhausen

Our use case for comparative effectiveness research requires an ontology of drugs that enables querying National Drug Codes (NDCs) by active ingredient, mechanism of action, physiological effect, and therapeutic class of the drug products they represent. We conducted an ontological analysis of drugs from the realist perspective, and evaluated existing drug terminology, ontology, and database artifacts from (1) the technical perspective, (2) the perspective of pharmacology and medical science (3) the perspective of description logic semantics (if they were available in Web Ontology Language or OWL), and (4) the perspective of our realism-based analysis of the domain. No existing resource was sufficient. Therefore, we built the Drug Ontology (DrOn) in OWL, which we populated with NDCs and other classes from RxNorm using only content created by the National Library of Medicine. We also built an application that uses DrOn to query for NDCs as outlined above, available at: http://ingarden.uams.edu/ingredients. The application uses an OWL-based description logic reasoner to execute end-user queries. DrOn is available at http://code.google.com/p/dr-on.

我们的比较有效性研究用例需要一个药物本体,以便能够按药物产品的活性成分、作用机制、生理效应和治疗类别查询国家药物代码(NDC)。我们从现实主义的角度对药物进行了本体分析,并从以下几个方面对现有的药物术语、本体和数据库工具进行了评估:(1) 技术角度;(2) 药理学和医学角度;(3) 描述逻辑语义角度(如果有网络本体语言或 OWL);(4) 我们基于现实主义的领域分析角度。现有的资源都不够用。因此,我们用 OWL 构建了药物本体 (DrOn),并仅使用美国国家医学图书馆创建的内容,从 RxNorm 中填充了 NDC 和其他类。我们还建立了一个应用程序,如上所述,使用 DrOn 查询 NDC,详情请访问:http://ingarden.uams.edu/ingredients。该应用程序使用基于 OWL 的描述逻辑推理器来执行最终用户查询。DrOn 的网址是:http://code.google.com/p/dr-on。
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引用次数: 0
LexRDF Model: An RDF-based Unified Model for Heterogeneous Biomedical Ontologies. LexRDF模型:基于rdf的异构生物医学本体统一模型。
Pub Date : 2009-10-26
Cui Tao, Jyotishman Pathak, Harold R Solbrig, Wei-Qi Wei, Christopher G Chute

The Lexical Grid (LexGrid) project is an on-going community-driven initiative coordinated by the Mayo Clinic Division of Biomedical Statistics and Informatics (BSI). It provides a common terminology model to represent multiple vocabulary and ontology sources as well as a scalable and robust API for accessing such information. While successfully used and adopted in the biomedical and clinical community, an important requirement is to align the existing LexGrid model with emerging Semantic Web standards and specifications. This paper introduces the LexRDF model, which maps the LexGrid model elements to corresponding constructs in W3C specifications such as RDF, OWL, and SKOS. Our mapping specification successfully used W3C standards to represent most of the existing LexGrid components, and those that did not map point out issues in the existing specifications that the W3C may want to consider in future work. With LexRDF, the terminological information represented in LexGrid can be translated to RDF triples, and therefore allowing LexGrid to leverage standard tools and technologies such as SPARQL and RDF triple stores.

词法网格(LexGrid)项目是由梅奥诊所生物医学统计和信息部(BSI)协调的一项正在进行的社区驱动的倡议。它提供了一个通用的术语模型来表示多个词汇表和本体源,并提供了一个可扩展的、健壮的API来访问这些信息。虽然在生物医学和临床社区中成功地使用和采用了LexGrid,但一个重要的要求是使现有的LexGrid模型与新兴的语义Web标准和规范保持一致。本文介绍了LexRDF模型,该模型将LexGrid模型元素映射到W3C规范(如RDF、OWL和SKOS)中的相应构造。我们的映射规范成功地使用W3C标准来表示大多数现有的LexGrid组件,那些没有映射的组件指出了现有规范中的问题,这些问题可能是W3C在未来的工作中需要考虑的。使用LexRDF,可以将LexGrid中表示的术语信息转换为RDF三元组,从而允许LexGrid利用SPARQL和RDF三元组存储等标准工具和技术。
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引用次数: 0
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CEUR workshop proceedings
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