{"id":4624,"date":"2022-04-17T14:55:42","date_gmt":"2022-04-17T12:55:42","guid":{"rendered":"https:\/\/impact.isciii.es\/recording-of-the-workshop-on-the-importance-of-phenotypic-labelling-with-hpo-in-clinical-practice-is-now-available\/"},"modified":"2024-09-27T11:07:17","modified_gmt":"2024-09-27T09:07:17","slug":"recording-of-the-workshop-on-the-importance-of-phenotypic-labelling-with-hpo-in-clinical-practice-is-now-available","status":"publish","type":"post","link":"https:\/\/impact.isciii.es\/en\/recording-of-the-workshop-on-the-importance-of-phenotypic-labelling-with-hpo-in-clinical-practice-is-now-available\/","title":{"rendered":"Recording of the workshop on the importance of phenotypic labelling with HPO in clinical practice is now available"},"content":{"rendered":"\n

The heads of the IMPaCT-GEN\u00f3MICA 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<\/em> on 26 April.\nThe recording of the day<\/strong>, to which <\/strong>255 people attended, it is available at this link<\/a>.<\/p>\n\n

Guiomar P\u00e9rez de Nanclares and Raquel Rodr\u00edguez L\u00f3pez explained the meaning of the HPO terminology<\/strong>.\nGuerau Fern\u00e1ndez offered an overview of the use of this terminology in bioinformatics pipelines <\/em>to achieve a genetic diagnosis<\/strong>.\nFor her part, Andrea Sariego presented two examples of clinical cases<\/strong> from the Marqu\u00e9s de Valdecilla Hospital in which the importance of performing a good HPO phenotyping was proven in order to achieve an accurate diagnosis. <\/p>\n\n

En la segunda parte del taller, se explic\u00f3 la importancia de la terminolog\u00eda HPO en el programa IMPaCT-GEN\u00f3MICA<\/strong>. Esta parte del taller fue presentada por Jaime Cruz, qui\u00e9n coment\u00f3 los usos avanzados de HPO, y por Beatriz Morte, qui\u00e9n resalt\u00f3 el uso de la terminolog\u00eda HPO en la plataforma IMPaCT-GEN\u00f3MICA para la recogida de la informaci\u00f3n fenot\u00edpica.