Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

IntroductionAccurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic descriptions. However, although the HPO terms for...

Full description

Bibliographic Details
Main Authors: Willem Maassen, Geertje Legger, Ovgu Kul Cinar, Paul van Daele, Marco Gattorno, Brigitte Bader-Meunier, Carine Wouters, Tracy Briggs, Lennart Johansson, Joeri van der Velde, Morris Swertz, Ebun Omoyinmi, Esther Hoppenreijs, Alexandre Belot, Despina Eleftheriou, Roberta Caorsi, Florence Aeschlimann, Guilaine Boursier, Paul Brogan, Matthias Haimel, Marielle van Gijn
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Immunology
Subjects:
Human Phenotype Ontology (HPO)
systemic autoinflammatory disorders (SAIDs)
genome diagnostics
variant interpretation
whole exome sequencing (WES)
LIRICAL
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1215869/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2023.1215869/full

Similar Items