Automatic genetic phenotype normalization from dysmorphology physical examinations: an overview of the BioCreative VIII-Task 3 competition
Database (Oxford) 2025-11-25
Summary:
We present here an overview of the BioCreative VIII Task 3 competition, which called for the development of state-of-the-art approaches to automatic normalization of observations noted by physicians in dysmorphology physical examinations to the Human Phenotype Ontology (HPO). We made available for the task 3136 deidentified and manually annotated observations extracted from electronic health records of 1652 paediatric patients at the Children's Hospital of Philadelphia. This task is challenging...