Utilization of Electronic Medical Records and Biomedical Literature to Support the Diagnosis of Rare Diseases Using Data Fusion and Collaborative Filtering Approaches

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Abstract

This study demonstrated potential utilization of heterogeneous datasets in a collaborative filtering model to support rare disease diagnosis. In addition to phenotypic-based analysis, in the future, we plan to further resolve the heterogeneity issue and reduce miscommunication between EMR and literature by mining genotypic information to establish a comprehensive disease-phenotype-gene network for rare disease diagnosis.

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