Samwald Matthias, Freimuth Robert, Luciano Joanne S, Lin Simon, Powers Robert L, Marshall M Scott, Adlassnig Klaus-Peter, Dumontier Michel, Boyce Richard D
Medical University of Vienna, Vienna, Austria.
Stud Health Technol Inform. 2013;192:539-42.
Genetic testing for personalizing pharmacotherapy is bound to become an important part of clinical routine. To address associated issues with data management and quality, we are creating a semantic knowledge base for clinical pharmacogenetics. The knowledge base is made up of three components: an expressive ontology formalized in the Web Ontology Language (OWL 2 DL), a Resource Description Framework (RDF) model for capturing detailed results of manual annotation of pharmacogenomic information in drug product labels, and an RDF conversion of relevant biomedical datasets. Our work goes beyond the state of the art in that it makes both automated reasoning as well as query answering as simple as possible, and the reasoning capabilities go beyond the capabilities of previously described ontologies.
用于个性化药物治疗的基因检测必将成为临床常规工作的重要组成部分。为了解决数据管理和质量方面的相关问题，我们正在创建一个临床药物遗传学语义知识库。该知识库由三个部分组成：一个用网络本体语言（OWL 2 DL）形式化的表达性本体、一个用于捕获药品标签中药基因组信息手动注释详细结果的资源描述框架（RDF）模型，以及相关生物医学数据集的RDF转换。我们的工作超越了现有技术水平，因为它使自动推理和查询回答尽可能简单，并且推理能力超越了先前描述的本体的能力。
