Article (Scientific journals)
The Human Phenotype Ontology in 2017
Köhler, Sebastian; Vasilevsky, Nicole A.; Engelstad, Mark et al.
2016In Nucleic Acids Research
Peer reviewed


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Nucl. Acids Res.-2016-Köhler-nar-gkw1039.pdf
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Abstract :
[en] 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; project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that operate on these. These components are being used for computational deep phenotyping and precision medicine as well as integration of clinical data into translational research. The HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools and will thereby contribute toward nascent efforts at global data exchange for identifying disease etiologies. This update article reviews the progress of the HPO project since the debut Nucleic Acids Research database article in 2014, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.
Disciplines :
Human health sciences: Multidisciplinary, general & others
Author, co-author :
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  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Laulederkind, Stanley J. F.
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.;  University of Connecticut - UCONN > Institute for Systems Genomics
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Title :
The Human Phenotype Ontology in 2017
Publication date :
Journal title :
Nucleic Acids Research
Peer reviewed :
Peer reviewed
Focus Area :
Systems Biomedicine
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