Reference : The Human Phenotype Ontology in 2021.
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/45306
The Human Phenotype Ontology in 2021.
English
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 mailto [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. [> >]
2020
Nucleic acids research
Yes (verified by ORBilu)
International
0305-1048
1362-4962
England
[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.
Researchers ; Professionals
http://hdl.handle.net/10993/45306
10.1093/nar/gkaa1043
© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.
FnR ; FNR11583046 > Roland Krause > MechEPI > Epileptogenesis of genetic epilepsies > 01/04/2018 > 31/03/2021 > 2017

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