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BioMedBridges: Prototype discovery tool for mouse-human phenotype

Parkinson, Helen ; Conte, Nathalie ; Meehan, Terry ; Raess, Michael ; Neff, Frauke ; Gormanns, Philipp ; Smedley, Damian ; Lengger, Christoph ; Luchinat, Claudio ; Maier, Holger ; Mueller, Heimo ; Reihs, Robert ; Tenori, Leonardo ; Tiedemann, Hendrik

Deliverables 7.1 and 7.2 provided a workshop and an ontology (DIAB) for Type 2 Diabetes (T2D) and evaluated the use of the DIAB ontology annotation and query for TD2 data. Here we evaluate the ontology as an extension of a semantic matching service (PhenoDigm, http://www.sanger.ac.uk/resources/databases/phenodigm/) to test whether the ontology improves recall of mouse models of T2D using three gold standard T2D associated gene lists for the evaluation and comparing DIAB’s T2D associated phenotype list to DIAB subsets, and other available T2D associated phenotype datasets.

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