Institute for Medical Informatics, Statistics and Documentation, Medical University of Graz, Graz, Austria.
BMC Bioinformatics. 2012 Aug 28;13:217. doi: 10.1186/1471-2105-13-217.
Biomedical processes can provide essential information about the (mal-) functioning of an organism and are thus frequently represented in biomedical terminologies and ontologies, including the GO Biological Process branch. These processes often need to be described and categorised in terms of their attributes, such as rates or regularities. The adequate representation of such process attributes has been a contentious issue in bio-ontologies recently; and domain ontologies have correspondingly developed ad hoc workarounds that compromise interoperability and logical consistency.
We present a design pattern for the representation of process attributes that is compatible with upper ontology frameworks such as BFO and BioTop. Our solution rests on two key tenets: firstly, that many of the sorts of process attributes which are biomedically interesting can be characterised by the ways that repeated parts of such processes constitute, in combination, an overall process; secondly, that entities for which a full logical definition can be assigned do not need to be treated as primitive within a formal ontology framework. We apply this approach to the challenge of modelling and automatically classifying examples of normal and abnormal rates and patterns of heart beating processes, and discuss the expressivity required in the underlying ontology representation language. We provide full definitions for process attributes at increasing levels of domain complexity.
We show that a logical definition of process attributes is feasible, though limited by the expressivity of DL languages so that the creation of primitives is still necessary. This finding may endorse current formal upper-ontology frameworks as a way of ensuring consistency, interoperability and clarity.
生物医学过程可以提供有关生物体(异常)功能的重要信息,因此经常在生物医学术语和本体中得到体现,包括 GO 生物学过程分支。这些过程通常需要根据其属性(如速率或规律性)进行描述和分类。最近,生物本体论中对这些过程属性的适当表示一直存在争议;相应地,领域本体论开发了特定的解决方法,这会损害互操作性和逻辑一致性。
我们提出了一种表示过程属性的设计模式,该模式与 BFO 和 BioTop 等上层本体框架兼容。我们的解决方案基于两个关键原则:首先,许多在生物医学上有趣的过程属性可以通过构成整体过程的过程重复部分的组合方式来描述;其次,对于可以分配完整逻辑定义的实体,无需在正式本体框架中将其视为原始实体。我们将这种方法应用于建模和自动分类正常和异常心率过程的速率和模式的挑战,并讨论了底层本体表示语言所需的表达能力。我们在不断增加的领域复杂度级别上为过程属性提供了完整的定义。
我们表明,过程属性的逻辑定义是可行的,但受到 DL 语言表达能力的限制,因此仍然需要创建原始实体。这一发现可能支持当前的正式上层本体框架,以确保一致性、互操作性和清晰性。