Publications by authors named "Jillian A Miller"
The Human Phenotype Ontology in 2021.
Sebastian Köhler Michael Gargano Nicolas Matentzoglu Leigh C Carmody David Lewis-Smith Jillian A Miller
Nucleic Acids Res
January 2021
Article Synopsis
- The Human Phenotype Ontology (HPO) was established in 2008 to standardize the description and analysis of phenotypic abnormalities in human diseases, and has become a global reference for phenotype data.
- Recent updates to the HPO include expansions in various medical fields, with improvements such as the seizure subontology aligning with international epilepsy guidelines, demonstrating their clinical validity.
- Ongoing efforts focus on harmonizing phenotypic definitions across the HPO and other ontologies, enhancing computational tools for cross-species disease research, and translating the HPO into indigenous languages for broader accessibility.