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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Pubblicato in:Am J Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4572507/
https://ncbi.nlm.nih.gov/pubmed/26119816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.05.020
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