Creation and curation of knowledge graphs can accelerate disease discovery and analysis in real-world data.
Proposes creating patient knowledge graphs using large language model extraction techniques, allowing data extraction via natural language rather than rigid ontological hierarchies.
Demonstrates the method through patient search for Dravet syndrome using a large ambulatory care EHR database.
Applies the method to identify Beta-propeller protein-associated neurodegeneration (BPAN) patients, showing real-world discovery where no ground truth exists.