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ACGT 大师本体及其应用——迈向本体驱动的癌症研究和管理系统。

The ACGT Master Ontology and its applications--towards an ontology-driven cancer research and management system.

机构信息

Institute of Formal Ontology and Medical, Information Science, Saarland University, P.O. Box 15 11 50, 66041 Saarbrücken, Germany.

出版信息

J Biomed Inform. 2011 Feb;44(1):8-25. doi: 10.1016/j.jbi.2010.04.008. Epub 2010 May 11.

Abstract

OBJECTIVE

This paper introduces the objectives, methods and results of ontology development in the EU co-funded project Advancing Clinico-genomic Trials on Cancer-Open Grid Services for Improving Medical Knowledge Discovery (ACGT). While the available data in the life sciences has recently grown both in amount and quality, the full exploitation of it is being hindered by the use of different underlying technologies, coding systems, category schemes and reporting methods on the part of different research groups. The goal of the ACGT project is to contribute to the resolution of these problems by developing an ontology-driven, semantic grid services infrastructure that will enable efficient execution of discovery-driven scientific workflows in the context of multi-centric, post-genomic clinical trials. The focus of the present paper is the ACGT Master Ontology (MO).

METHODS

ACGT project researchers undertook a systematic review of existing domain and upper-level ontologies, as well as of existing ontology design software, implementation methods, and end-user interfaces. This included the careful study of best practices, design principles and evaluation methods for ontology design, maintenance, implementation, and versioning, as well as for use on the part of domain experts and clinicians.

RESULTS

To date, the results of the ACGT project include (i) the development of a master ontology (the ACGT-MO) based on clearly defined principles of ontology development and evaluation; (ii) the development of a technical infrastructure (the ACGT Platform) that implements the ACGT-MO utilizing independent tools, components and resources that have been developed based on open architectural standards, and which includes an application updating and evolving the ontology efficiently in response to end-user needs; and (iii) the development of an Ontology-based Trial Management Application (ObTiMA) that integrates the ACGT-MO into the design process of clinical trials in order to guarantee automatic semantic integration without the need to perform a separate mapping process.

摘要

目的

本文介绍了在欧盟联合资助的项目“推进癌症临床基因组试验-开放网格服务以改善医学知识发现(ACGT)”中本体开发的目标、方法和结果。虽然生命科学领域的现有数据在数量和质量上都有了最近的增长,但由于不同研究小组使用不同的底层技术、编码系统、类别方案和报告方法,其充分利用受到了阻碍。ACGT 项目的目标是通过开发一个本体驱动的语义网格服务基础设施来解决这些问题,该基础设施将使在多中心、后基因组临床试验背景下的发现驱动的科学工作流程的高效执行成为可能。本文的重点是 ACGT 主本体(MO)。

方法

ACGT 项目研究人员对现有的领域和上层本体,以及现有的本体设计软件、实现方法和最终用户接口进行了系统的审查。这包括仔细研究本体设计、维护、实现和版本控制的最佳实践、设计原则和评估方法,以及领域专家和临床医生的使用方法。

结果

迄今为止,ACGT 项目的成果包括:(i)基于明确的本体开发和评估原则开发了一个主本体(ACGT-MO);(ii)开发了一个技术基础设施(ACGT 平台),该平台利用基于开放架构标准开发的独立工具、组件和资源来实现 ACGT-MO,其中包括一个应用程序,该程序根据最终用户的需求有效地更新和演进本体;(iii)开发了一个基于本体的试验管理应用程序(ObTiMA),该应用程序将 ACGT-MO 集成到临床试验的设计过程中,以保证自动语义集成,而无需执行单独的映射过程。

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