Article (Scientific journals)
The Human Phenotype Ontology in 2021.
Köhler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas et al.
2020In Nucleic Acids Research
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Abstract :
[en] The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.
Disciplines :
Genetics & genetic processes
Author, co-author :
Köhler, Sebastian
Gargano, Michael
Matentzoglu, Nicolas
Carmody, Leigh C.
Lewis-Smith, David
Vasilevsky, Nicole A.
Danis, Daniel
Balagura, Ganna
Baynam, Gareth
Brower, Amy M.
Callahan, Tiffany J.
Chute, Christopher G.
Est, Johanna L.
Galer, Peter D.
Ganesan, Shiva
Griese, Matthias
Haimel, Matthias
Pazmandi, Julia
Hanauer, Marc
Harris, Nomi L.
Hartnett, Michael J.
Hastreiter, Maximilian
Hauck, Fabian
He, Yongqun
Jeske, Tim
Kearney, Hugh
Kindle, Gerhard
Klein, Christoph
Knoflach, Katrin
Krause, Roland  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Bioinformatics Core
Lagorce, David
McMurry, Julie A.
Miller, Jillian A.
Munoz-Torres, Monica C.
Peters, Rebecca L.
Rapp, Christina K.
Rath, Ana M.
Rind, Shahmir A.
Rosenberg, Avi Z.
Segal, Michael M.
Seidel, Markus G.
Smedley, Damian
Talmy, Tomer
Thomas, Yarlalu
Wiafe, Samuel A.
Xian, Julie
Yüksel, Zafer
Helbig, Ingo
Mungall, Christopher J.
Haendel, Melissa A.
Robinson, Peter N.
More authors (41 more) Less
External co-authors :
yes
Language :
English
Title :
The Human Phenotype Ontology in 2021.
Publication date :
2020
Journal title :
Nucleic Acids Research
ISSN :
1362-4962
Publisher :
Oxford University Press, United Kingdom
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
FnR Project :
FNR11583046 - Epileptogenesis Of Genetic Epilepsies, 2017 (01/04/2018-30/06/2021) - Roland Krause
Commentary :
© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.
Available on ORBilu :
since 04 January 2021

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