000002967 001__ 2967 000002967 005__ 20250424232806.0 000002967 0247_ $$2DOI$$a10.6083/M4Z60N1W 000002967 037__ $$aETD 000002967 245__ $$aComparative analysis of semantic similarity and gene orthology tools for identification of gene candidates for human diseases 000002967 260__ $$bOregon Health and Science University 000002967 269__ $$a2015 000002967 336__ $$aThesis 000002967 502__ $$bM.B.I. 000002967 520__ $$aIn the study of rare and undiagnosed diseases it is of critical importance to identify potential gene candidates for those disease in order to establish an appropriate treatment protocol. However, there may be insufficient resources available to investigate rare and undiagnosed diseases, so it may be necessary to identify potential gene candidates from patient clinical observations to narrow the focus of the investigation. Two approaches for identifying gene candidates are investigated and compared: the OWLSim package for comparing the semantic similarity of phenotypes and the Phenolog approach for identifying orthologous phenotypes by searching for orthologous gene enrichment between phenotypes 000002967 540__ $$fCC BY 000002967 542__ $$fIn copyright - single owner 000002967 650__ $$aComputational Biology$$031511 000002967 650__ $$aDisease$$017931 000002967 650__ $$aPhenotype$$023948 000002967 650__ $$aGenes$$019447 000002967 691__ $$aSchool of Medicine$$041369 000002967 692__ $$aDepartment of Medical Informatics and Clinical Epidemiology$$041422 000002967 7001_ $$aLaraway, Bryan$$uOregon Health and Science University$$041354 000002967 7201_ $$aSonmez, Kemal$$uOregon Health and Science University$$041354$$7Personal$$eAdvisor 000002967 8564_ $$96696f7db-b1fb-4bb7-bbf5-1585c38c8ca2$$s15291242$$uhttps://digitalcollections.ohsu.edu/record/2967/files/3741_etd.pdf$$ePublic$$2613571b8836969eca79e70742996ec54$$31 000002967 905__ $$a/rest/prod/31/97/xm/36/3197xm36t 000002967 909CO $$ooai:digitalcollections.ohsu.edu:2967$$pstudent-work 000002967 980__ $$aBiomedical Informatics