An ontological foundation for ocular phenotypes and rare eye diseases.
Details
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UNIL restricted access
State: Public
Version: Final published version
License: Not specified
UNIL restricted access
State: Public
Version: Final published version
License: Not specified
Serval ID
serval:BIB_CBB1C2FB3900
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
An ontological foundation for ocular phenotypes and rare eye diseases.
Journal
Orphanet journal of rare diseases
Working group(s)
ERN-EYE Ontology Study Group
Contributor(s)
Ashworth J.L., Audo I., Balciuniene V.J., Banin E., Black G.C., Böhringer D., Boon CJF, Bremond-Gignac D., Calvas P., Castela G., Dagnelie G., Dollfus H., Downes S.M., Fasolo A., Fasser C., Gelzinis A., Goetz K., Hamann S., Héon E., Iarossi G., Kawasaki A., Keegan D., Kessel L., Khan K., Klett A., Köhler S., Leroux D., Leroy B.P., Lisch W., Liskova P., Lorenz B., Maggi R., Maxime E., Meunier I., Mohand-Said S., Nowomiejska K., Perdomo Y., Petzold A., Preising M., Robinson P.N., Scholl HPN, Sergouniotis P.I., Sodi A., Stingl K., Studer F., Suppiej A., Thompson R., Touitou V., Traboulsi E., Trumpaitis J., Tuft S.J., Vaclavik V., Valeina S., Van Cauwenbergh C., Verloes A., Vighetto A., Wheeler R., Wheeler-Schilling T., Yu-Wai-Man P., Zobor D., Zrenner E.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Publication state
Published
Issued date
09/01/2019
Peer-reviewed
Oui
Volume
14
Number
1
Pages
8
Language
english
Notes
Publication types: Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Publication Status: epublish
Abstract
The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical heterogeneity and geographic dispersion make data-driven, evidence-based practice particularly challenging. Inter-institutional collaboration and information sharing is crucial but the lack of standardised terminology poses an important barrier. Ontologies are computational tools that include sets of vocabulary terms arranged in hierarchical structures. They can be used to provide robust terminology standards and to enhance data interoperability. Here, we discuss the development of the ophthalmology-related component of two well-established biomedical ontologies, the Human Phenotype Ontology (HPO; includes signs, symptoms and investigation findings) and the Orphanet Rare Disease Ontology (ORDO; includes rare disease nomenclature/nosology).
A variety of approaches were used including automated matching to existing resources and extensive manual curation. To achieve the latter, a study group including clinicians, patient representatives and ontology developers from 17 countries was formed. A broad range of terms was discussed and validated during a dedicated workshop attended by 60 members of the group.
A comprehensive, structured and well-defined set of terms has been agreed on including 1106 terms relating to ocular phenotypes (HPO) and 1202 terms relating to rare eye disease nomenclature (ORDO). These terms and their relevant annotations can be accessed in http://www.human-phenotype-ontology.org/ and http://www.orpha.net/ ; comments, corrections, suggestions and requests for new terms can be made through these websites. This is an ongoing, community-driven endeavour and both HPO and ORDO are regularly updated.
To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease community. We hope that this work will not only improve coding and standardise information exchange in clinical care and research, but also it will catalyse the transition to an evidence-based precision ophthalmology paradigm.
A variety of approaches were used including automated matching to existing resources and extensive manual curation. To achieve the latter, a study group including clinicians, patient representatives and ontology developers from 17 countries was formed. A broad range of terms was discussed and validated during a dedicated workshop attended by 60 members of the group.
A comprehensive, structured and well-defined set of terms has been agreed on including 1106 terms relating to ocular phenotypes (HPO) and 1202 terms relating to rare eye disease nomenclature (ORDO). These terms and their relevant annotations can be accessed in http://www.human-phenotype-ontology.org/ and http://www.orpha.net/ ; comments, corrections, suggestions and requests for new terms can be made through these websites. This is an ongoing, community-driven endeavour and both HPO and ORDO are regularly updated.
To our knowledge, this is the first effort of such scale to provide terminology standards for the rare eye disease community. We hope that this work will not only improve coding and standardise information exchange in clinical care and research, but also it will catalyse the transition to an evidence-based precision ophthalmology paradigm.
Keywords
Biological Ontologies, Computational Biology/methods, Evidence-Based Medicine, Eye Diseases/classification, Humans, Precision Medicine/methods, Rare Diseases/classification, Evidence-based precision medicine, Human phenotype ontology, Orphanet rare disease ontology, Rare eye disease
Pubmed
Web of science
Open Access
Yes
Create date
20/03/2024 9:32
Last modification date
09/08/2024 15:52