The Human Phenotype Ontology in 2017

Köhler, Sebastian; Vasilevsky, Nicole; Engelstad, Mark; D. Foster, Erin; A. McMurry, Julie; Aymé, Ségolène; Baynam, Gareth; M. Bello, Susan; F. Boerkoel, Cornelius; M. Boycott, Kym; Brudno, Michael; J. Buske, Orion; F. Chinnery, Patrick; Cipriani, Valentina; E. Connell, Laureen; Dawkins, Hugh; E. DeMare, Laura; Devereau, A.; B.A. de Vries, Bert; V. Firth, Helen; Freson, Kathleen; Greene, Daniel; Hamosh, Ada; Helbig, Ingo; Hum, Courtney; Jähn, Johanna; James, Roger; Krause, Roland; J. F. Laulederkind, Stanley; Lochmüller, Hanns; J. Lyon, Gholson; Ogishima, Soichi; Olry, Annie; H. Ouwehand, Willem; Pontikos, Nikolas; Rath, Ana; Schaefer, Franz; H. Scott, Richard; M. Segal, Michael; I. Sergouniotis, Panagiotis; Sever, Richard; L. Smith, Cynthia; Straub, Volker; Thompson, Rachel; Turner, C.; Turro, Ernest; W. M. Veltman, Marijcke; Vulliamy, Tom; Yu, Jing; von Ziegenweidt, Julie; Zankl, Andreas; Züchner, Stephan; Żemojtel, Tomasz; O.B. Jacobsen, Julius; Groza, Tudor; Smedley, Damian; Mungall, Chris; Haendel, Melissa; N. Robinson, Peter

doi:10.1093/nar/gkw1039

Public

The Human Phenotype Ontology in 2017

Published in Nucleic Acids Research • Nov 28, 2016

Authors:

Sebastian Köhler

Nicole Vasilevsky

Mark Engelstad

Abstract

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 phenoty...

Subject

Phenotype

Biology

Computational biology

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