The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572507/
https://www.ncbi.nlm.nih.gov/pubmed/26119816
http://dx.doi.org/10.1016/j.ajhg.2015.05.020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572507/
https://www.ncbi.nlm.nih.gov/pubmed/26119816
http://dx.doi.org/10.1016/j.ajhg.2015.05.020

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