Article
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
American journal of human genetics - 2 Jul 2015
Groza Tudor, Köhler Sebastian, Moldenhauer Dawid, Vasilevsky Nicole, Baynam Gareth, Zemojtel Tomasz, Schriml Lynn Marie, Kibbe Warren Alden, Schofield Paul N, Beck Tim, Vasant Drashtti, Brookes Anthony J, Zankl Andreas, Washington Nicole L, Mungall Christopher J, Lewis Suzanna E, Haendel Melissa A, Parkinson Helen, Robinson Peter N
Abstract excerpt
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been available for common disease. Here, we have developed a concept-recognition procedure that analyzes the frequencies of HPO disease annotations as identified in over five...
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