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Open biomedical pluralism: formalising knowledge about breast cancer phenotypes

机译:开放式生物医学多元化:形式化有关乳腺癌表型的知识

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摘要

We demonstrate a heterogeneity of representation types for breast cancer phenotypes and stress that the characterisation of a tumour phenotype often includes parameters that go beyond the representation of a corresponding empirically observed tumour, thus reflecting significant functional features of the phenotypes as well as epistemic interests that drive the modes of representation. Accordingly, the represented features of cancer phenotypes function as epistemic vehicles aiding various classifications, explanations, and predictions. In order to clarify how the plurality of epistemic motivations can be integrated on a formal level, we give a distinction between six categories of human agents as individuals and groups focused around particular epistemic interests. We analyse the corresponding impact of these groups and individuals on representation types, mapping and reasoning scenarios. Respecting the plurality of representations, related formalisms, expressivities and aims, as they are found across diverse scientific communities, we argue for a pluralistic ontology integration. Moreover, we discuss and illustrate to what extent such a pluralistic integration is supported by the distributed ontology language DOL, a meta-language for heterogeneous ontology representation that is currently under standardisation as ISO WD 17347 within the OntoIOp (Ontology Integration and Interoperability) activity of ISO/TC 37/SC 3. We particularly illustrate how DOL supports representations of parthood on various levels of logical expressivity, mapping of terms, merging of ontologies, as well as non-monotonic extensions based on circumscription allowing a transparent formal modelling of the normal/abnormal distinction in phenotypes.
机译:我们展示了乳腺癌表型的表征类型的异质性,并强调肿瘤表型的表征通常包括超出相应的经验观察到的肿瘤的表征的参数,从而反映了表型的重要功能特征以及驱动的认知兴趣代表方式。因此,癌症表型的代表特征起着认知工具的作用,有助于各种分类,解释和预测。为了阐明在正式层面上如何整合多种认知动机,我们将六类人类行为者分为个人和群体,这些个人和群体关注特定的认知兴趣。我们分析了这些群体和个人对表征类型,映射和推理场景的相应影响。尊重在各种科学社区中发现的多种表示形式,相关的形式主义,表达性和目的,我们主张采用多元的本体论整合。此外,我们讨论并说明了分布式本体语言DOL在多大程度上支持了这种多元集成,该分布式本体语言DOL是一种异构本体表示的元语言,目前在其OntoIOp(本体集成和互操作性)活动中被标准化为ISO WD 17347。 ISO / TC 37 / SC 3.我们特别说明DOL如何在逻辑表达的各个级别上支持部分性的表示,术语映射,本体的合并以及基于限制的非单调扩展,从而允许对法线进行透明的正式建模/表型的异常区分。

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