The heads of the IMPaCT-GENóMICA HPO Phenotyping working group addressed the importance of using labelling with the terminology Human Phenotype Ontology (HPO) to carry out a correct phenotyping of patients at the workshop held online on 26 April. The recording of the day, to which 255 people attended, it is available at this link.
Guiomar Pérez de Nanclares and Raquel Rodríguez López explained the meaning of the HPO terminology. Guerau Fernández offered an overview of the use of this terminology in bioinformatics pipelines to achieve a genetic diagnosis. For her part, Andrea Sariego presented two examples of clinical cases from the Marqués de Valdecilla Hospital in which the importance of performing a good HPO phenotyping was proven in order to achieve an accurate diagnosis.
En la segunda parte del taller, se explicó la importancia de la terminología HPO en el programa IMPaCT-GENóMICA. Esta parte del taller fue presentada por Jaime Cruz, quién comentó los usos avanzados de HPO, y por Beatriz Morte, quién resaltó el uso de la terminología HPO en la plataforma IMPaCT-GENóMICA para la recogida de la información fenotípica.