Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project.
Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project.
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DOI：
10.1038/s41581-020-00335-w
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发表时间：
2020-11
期刊：
影响因子：
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通讯作者：
Kidney Precision Medicine Project
中科院分区：
文献类型：
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作者：
Ong E;Wang LL;Schaub J;O'Toole JF;Steck B;Rosenberg AZ;Dowd F;Hansen J;Barisoni L;Jain S;de Boer IH;Valerius MT;Waikar SS;Park C;Crawford DC;Alexandrov T;Anderton CR;Stoeckert C;Weng C;Diehl AD;Mungall CJ;Haendel M;Robinson PN;Himmelfarb J;Iyengar R;Kretzler M;Mooney S;He Y;Kidney Precision Medicine Project
肾脏精准医学项目（KPMP）和其他国家的努力正在收集和整合大型不同的临床，生物技术和成像数据集，以更好地了解和分层肾脏疾病。本体是组织和理解不同数据元素及其关系的强大工具。本体对于支持进行肾脏精准医学所需的大数据分析类型至关重要，其中必须结合来自不同来源的异质临床，成像和活检数据来定义患者的表型。在这篇文章中，我们演示了如何使用参考本体和两个KPMP开发的本体，肾组织图谱本体（KTAO）和精准医学和调查本体（OPMI），以支持创建肾组织图谱。KPMP本体可以改进可用于注释肾脏数据的概念，并修改肾脏疾病的现有定义以支持精准医学。我们还提供了一个路线图，各种本体，包括KTAO和OPMI，可以用来支持肾脏疾病建模更广泛的肾脏病社区。
The Kidney Precision Medicine Project (KPMP) and other national efforts are collecting and integrating large disparate clinical, biotechnology, and imaging datasets to better understand and stratify kidney disease. Enabling these efforts, ontologies are powerful tools for organizing and making sense of different data elements and their relationships. Ontologies are critical for supporting the types of big data analysis necessary to conduct kidney precision medicine, where heterogeneous clinical, imaging, and biopsy data from diverse sources must be combined to define a patient’s phenotype. In this article, we demonstrate how reference ontologies and two KPMP-developed ontologies, the Kidney Tissue Atlas Ontology (KTAO) and the Ontology of Precision Medicine and Investigation (OPMI), will be used to support the creation of the Kidney Tissue Atlas. The KPMP ontologies can improve the concepts available for annotating kidney data, and revise existing definitions of kidney disease in support of precision medicine. We also provide a roadmap for how various ontologies, including KTAO and OPMI, can be used to support kidney disease modeling by the broader nephrology community.