E-resources
-
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; 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
Nucleic acids research, 01/2021, Volume: 49, Issue: D1Journal Article
Abstract 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.
Author
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.