Rare disease knowledge enrichment through a data-driven approach

摘要

BackgroundExisting resources to assist the diagnosis of rare diseases are usually curated from the literature that can be limited for clinical use. It often takes substantial effort before the suspicion of a rare disease is even raised to utilize those resources. The primary goal of this study was to apply a data-driven approach to enrich existing rare disease resources by mining phenotype-disease associations from electronic medical record (EMR).