Save the date: March 26, 2021, 14:00 CET
More about the webinar
The ERN-RITA Molecular Testing Working Group, together with the ESID Genetics Working Party, initiated the Human Phenotype Ontology (HPO) for immune-mediated disorders project. HPO is being increasingly adopted as a standard for phenotypic abnormalities by diverse groups such as international rare disease organizations, registries, clinical labs, biomedical resources, and clinical software tools. It provides comprehensive bioinformatic resources for the analysis of human diseases and phenotypes, offering a computational bridge between genome biology and clinical medicine. ERN-RITA and ESID joined forces to create and correct HPO terminology for immune-mediated disorders (Inborn Errors on Immunity, IEI).
The coordination and bioinformatics part of this project is performed by the research group of Kaan Boztug at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD). The HPO and disease ontology terms are being revised in small, functional groups. To date, three hands-on workshops were held in 2018, 2019 and 2020 respectively.
The project is interesting for clinicians, geneticists and bioinformaticians in the field of IEI.
1) Introduction, by Marielle van Gijn (Chair of Molecular Testing WG, University Medical Center Groningen) and Anne-Sophie Korganow (Chair of Research WG, Les Hôpitaux Universitaires de Strasbourg)
2) Curation and Expansion of Human Phenotype Ontology for of Inborn Errors of Immunity, by Julia Pazmandi and Matthias Haimel from the research group of Kaan Boztug at the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD)
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