Article
Automatic genetic phenotype normalization from dysmorphology physical examinations: an overview of the BioCreative VIII-Task 3 competition.
Database : the journal of biological databases and curation - 18 Jan 2025
Weissenbacher Davy, Zhao Xinwei, Priestley Jessica R C, Szigety Katherine M, Schmidt Sarah F, O'Connor Karen, Soysal Ekin, Roberts Kirk, Qi Jiewei, Luo Ling, Yang Zhihao, Lin Hongfei, Kim Hajung, Kim Chanhwi, Sohn Jiwoong, Beck Tim, Rei Marek, Kim Sunkyu, Simpson T Ian, Posma Joram M, Lain Antoine, Sung Mujeen, Kang Jaewoo, Alhassan Areej, Schlegel Viktor, Aloud Monira, Batista-Navarro Riza, Nenadic Goran, Lin Ying-Jia, Feng Zhi-Quan, Kao Hung-Yu, Campbell Ian M, Gonzalez-Hernandez Graciela
Abstract excerpt
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...
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