Article
The Human Phenotype Ontology in 2017.
Nucleic acids research - 4 Jan 2017
Köhler Sebastian, Vasilevsky Nicole A, Engelstad Mark, Foster Erin, McMurry Julie, Aymé Ségolène, Baynam Gareth, Bello Susan M, Boerkoel Cornelius F, Boycott Kym M, Brudno Michael, Buske Orion J, Chinnery Patrick F, Cipriani Valentina, Connell Laureen E, Dawkins Hugh J S, DeMare Laura E, Devereau Andrew D, de Vries Bert B A, Firth Helen V, Freson Kathleen, Greene Daniel, Hamosh Ada, Helbig Ingo, Hum Courtney, Jähn Johanna A, James Roger, Krause Roland, F Laulederkind Stanley J, Lochmüller Hanns, Lyon Gholson J, Ogishima Soichi, Olry Annie, Ouwehand Willem H, Pontikos Nikolas, Rath Ana, Schaefer Franz, Scott Richard H, Segal Michael, Sergouniotis Panagiotis I, Sever Richard, Smith Cynthia L, Straub Volker, Thompson Rachel, Turner Catherine, Turro Ernest, Veltman Marijcke W M, Vulliamy Tom, Yu Jing, von Ziegenweidt Julie, Zankl Andreas, Züchner Stephan, Zemojtel Tomasz, Jacobsen Julius O B, Groza Tudor, Smedley Damian, Mungall Christopher J, Haendel Melissa, Robinson Peter N
Abstract excerpt
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being...
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