Dorothée Leroux

TL;DR: The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data and plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.

TL;DR: The development of the ophthalmology-related component of two well-established biomedical ontologies, the Human Phenotype Ontology and the Orphanet Rare Disease Ontology, is discussed, believed to be the first effort of such scale to provide terminology standards for the rare eye disease community.

TL;DR: The European Reference Network for Rare Eye Diseases (ERN-EYE) as mentioned in this paper was created to facilitate improvement in diagnosis of rare eye diseases in European member states by providing access to genetic and genomic testing.

TL;DR: Professor Michael Larsen, who is a member of the ERN-EYE Ontology Study Group and co-chair of Workgroup on Retinal Rare Eye Diseases (WG1), was inadvertently omitted from the author list in the Acknowledgements section of the original article.

TL;DR: The second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed per center, comparable diagnostic work-up, and increasing genotyping in diagnostic laboratories as mentioned in this paper .