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

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.