DeepPVP: phenotype-based prioritization of causative variants using deep learning von Boudellioua, Imane, Kulmanov, Maxat, Schofield, Paul N, Gkoutos, Georgios V, Hoehndorf, Robert

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Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases von Hoehndorf, Robert, Schofield, Paul N., Gkoutos, Georgios V.

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Living inside the box: environmental effects on mouse models of human disease von Sundberg, John P, Schofield, Paul N

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Contribution of model organism phenotypes to the computational identification of human disease genes von Alghamdi, Sarah M., Schofield, Paul N., Hoehndorf, Robert

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Ontology-based prediction of cancer driver genes von Althubaiti, Sara, Karwath, Andreas, Dallol, Ashraf, Noor, Adeeb, Alkhayyat, Shadi Salem, Alwassia, Rolina, Mineta, Katsuhiko, Gojobori, Takashi, Beggs, Andrew D., Schofield, Paul N., Gkoutos, Georgios V., Hoehndorf, Robert

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DDIEM: drug database for inborn errors of metabolism von Abdelhakim, Marwa, McMurray, Eunice, Syed, Ali Raza, Kafkas, Senay, Kamau, Allan Anthony, Schofield, Paul N, Hoehndorf, Robert

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Semantic prioritization of novel causative genomic variants von Boudellioua, Imane, Mahamad Razali, Rozaimi B, Kulmanov, Maxat, Hashish, Yasmeen, Bajic, Vladimir B, Goncalves-Serra, Eva, Schoenmakers, Nadia, Gkoutos, Georgios V, Schofield, Paul N, Hoehndorf, Robert

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Datasets of in vitro clonogenic assays showing low dose hyper-radiosensitivity and induced radioresistance von Polgár, Szabolcs, Schofield, Paul N., Madas, Balázs G.

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Mouse model phenotypes provide information about human drug targets von Hoehndorf, Robert, Hiebert, Tanya, Hardy, Nigel W, Schofield, Paul N, Gkoutos, Georgios V, Dumontier, Michel

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Linking common human diseases to their phenotypes; development of a resource for human phenomics von Kafkas, Şenay, Althubaiti, Sara, Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N

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The role of ontologies in biological and biomedical research: a functional perspective von Hoehndorf, Robert, Schofield, Paul N, Gkoutos, Georgios V

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Talking about diseases; developing a model of patient and public-prioritised disease phenotypes von Slater, Karin, Schofield, Paul N., Wright, James, Clift, Paul, Irani, Anushka, Bradlow, William, Aziz, Furqan, Gkoutos, Georgios V.

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Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program von Sundberg, John P, Dadras, Soheil S, Silva, Kathleen A, Kennedy, Victoria E, Garland, Gaven, Murray, Stephen A, Sundberg, Beth A, Schofield, Paul N, Pratt, C Herbert

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Interoperability between biomedical ontologies through relation expansion, upper-level ontologies and automatic reasoning von Hoehndorf, Robert, Dumontier, Michel, Oellrich, Anika, Rebholz-Schuhmann, Dietrich, Schofield, Paul N, Gkoutos, Georgios V

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Integrating phenotype ontologies with PhenomeNET von Rodríguez-García, Miguel Ángel, Gkoutos, Georgios V, Schofield, Paul N, Hoehndorf, Robert

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Causal relationships between diseases mined from the literature improve the use of polygenic risk scores von Toonsi, Sumyyah, Gauran, Iris Ivy, Ombao, Hernando, Schofield, Paul N, Hoehndorf, Robert

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The anatomy of phenotype ontologies: principles, properties and applications von Gkoutos, Georgios V, Schofield, Paul N, Hoehndorf, Robert

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Show and tell: disclosure and data sharing in experimental pathology von Schofield, Paul N, Ward, Jerrold M, Sundberg, John P

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PhenomeNET: a whole-phenome approach to disease gene discovery von Hoehndorf, Robert, Schofield, Paul N., Gkoutos, Georgios V.

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Systematic analysis of experimental phenotype data reveals gene functions von Hoehndorf, Robert, Hardy, Nigel W, Osumi-Sutherland, David, Tweedie, Susan, Schofield, Paul N, Gkoutos, Georgios V

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