Lochmüller Lab

We are delighted to have played a role in this new paper on the continued development and expansion of the human phenotype ontology. This comprehensive and interoperable vocabulary of phenotypic terms has become the global standard for annotating phenotypic features in rare disease. The new publication describes the ways the ontology has developed in response to its user community and incorporated new disease annotations, improved logical definitions and links with other ontologies and animal data, as well as translations and lay versions accessible to patients. Together with the development team at the Centro Nacional de Análisis Genómico, we incorporated HPO annotation into the RD-Connect Genome-Phenome Analysis Platform, enabling the use of sophisticated prioritization algorithms such as Exomiser to aid users in identifying the causative variant in their undiagnosed patients.

Read the open-access publication in the Nucleic Acids Research Database Issue here.