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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Integrating genomic knowledge sources through an anatomy ontology
John H Gennari1, Adam Silberfein, Jesse C Wiley
1Biomedical & Health Informatics, The Information School, & Comparative Medicine, University of Washington, Seattle, WA 98195, USA.
Abstract:
Modern genomic research has access to a plethora of knowledge sources. Often, it is imperative that researchers combine and integrate knowledge from multiple perspectives. Although some technology exists for connecting data and knowledge bases, these methods are only just beginning to be successfully applied to research in modem cell biology. In this paper, we argue that one way to integrate multiple knowledge sources is through anatomy--both generic cellular anatomy, as well as anatomic knowledge about the tissues and organs that may be studied via microarray gene expression experiments. We present two examples where we have combined a large ontology of human anatomy (the FMA) with other genomic knowledge sources: the gene ontology (GO) and the mouse genomic databases (MGD) of the Jackson Labs. These two initial examples of knowledge integration provide a proof of concept that anatomy can act as a hub through which we can usefully combine a variety of genomic knowledge and data.
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