Article
An Integrated Pipeline for Phenotypic Characterization, Clustering and Visualization of Patient Cohorts in a Rare Disease-Oriented Clinical Data Warehouse.
Studies in health technology and informatics - 22 Aug 2024
Chen Xiaoyi, Wang Junyuan, Faviez Carole, Wang Xiaomeng, Vincent Marc, Tsopra Rosy, Burgun Anita, Garcelon Nicolas
Abstract excerpt
Rare diseases pose significant challenges due to their heterogeneity and lack of knowledge. This study develops a comprehensive pipeline interoperable with a document-oriented clinical data warehouse, integrating cohort characterization, patient clustering and interpretation. Leveraging NLP, semantic similarity, machine learning and visualization, the pipeline enables the identification of prevalent phenotype...
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