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Journal Articles Nucleic Acids Research Year : 2017

The Human Phenotype Ontology in 2017

Sebastian Köhler
  • Function : Author
Nicole A Vasilevsky
Mark Engelstad
  • Function : Author
Erin Foster
  • Function : Author
Julie Mcmurry
  • Function : Author
Gareth Baynam
  • Function : Author
Susan M Bello
  • Function : Author
Cornelius F Boerkoel
  • Function : Author
Kym M Boycott
  • Function : Author
Michael Brudno
  • Function : Author
Orion J Buske
  • Function : Author
Patrick F Chinnery
  • Function : Author
Valentina Cipriani
  • Function : Author
Laureen E Connell
  • Function : Author
Hugh Dawkins
  • Function : Author
Laura E Demare
  • Function : Author
Andrew D Devereau
  • Function : Author
Bert de Vries
  • Function : Author
Helen V Firth
  • Function : Author
Kathleen Freson
  • Function : Author
Daniel Greene
  • Function : Author
Ada Hamosh
  • Function : Author
Ingo Helbig
  • Function : Author
Courtney Hum
  • Function : Author
Johanna A Jähn
  • Function : Author
Roger James
  • Function : Author
Roland Krause
  • Function : Author
Stanley F Laulederkind
  • Function : Author
Hanns Lochmüller
  • Function : Author
Gholson J Lyon
  • Function : Author
Soichi Ogishima
  • Function : Author
Annie Olry
  • Function : Author
Willem H Ouwehand
  • Function : Author
Nikolas Pontikos
  • Function : Author
Franz Schaefer
  • Function : Author
Richard H Scott
  • Function : Author
Michael Segal
  • Function : Author
Panagiotis I Sergouniotis
  • Function : Author
Richard Sever
  • Function : Author
Cynthia L Smith
  • Function : Author
Volker Straub
  • Function : Author
Rachel Thompson
  • Function : Author
Catherine Turner
  • Function : Author
Ernest Turro
  • Function : Author
Marijcke Veltman
  • Function : Author
Tom Vulliamy
  • Function : Author
Jing Yu
  • Function : Author
Julie von Ziegenweidt
  • Function : Author
Andreas Zankl
  • Function : Author
Stephan Züchner
  • Function : Author
Tomasz Zemojtel
  • Function : Author
Julius Jacobsen
  • Function : Author
Tudor Groza
  • Function : Author
Damian Smedley
  • Function : Author
Christopher J Mungall
  • Function : Author
Melissa Haendel
  • Function : Author
Peter N Robinson
  • Function : Author
  • PersonId : 1340249
Hugh J.S. Dawkins
  • Function : Author
Bert B.A. de Vries
  • Function : Author
Stanley J F. Laulederkind
Marijcke W.M. Veltman
  • Function : Author
Julie von Ziegenweidt
  • Function : Author
Julius O.B. Jacobsen
  • Function : Author

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 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.
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Dates and versions

hal-04412294 , version 1 (23-01-2024)

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Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, Erin Foster, Julie Mcmurry, et al.. The Human Phenotype Ontology in 2017. Nucleic Acids Research, 2017, 45 (D1), pp.D865-D876. ⟨10.1093/nar/gkw1039⟩. ⟨hal-04412294⟩
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