WITHDRAWN EHR-based Deep Phenotyping of Rare Diseases

Thomas M. Menino Convention & Exhibition Center 

Our understanding of rare diseases remains limited. However, the universal adoption of electronic health record (EHR) systems has enabled high-fidelity characterization of clinical manifestations of diseases with accurate temporality—data that is vital for enhancing clinical decision support and patient outcomes. In this talk, I will present our work leveraging large language models (LLMs) to extract and normalize rare disease phenotype concepts and identify accurate onset information. By supporting phenotype-driven genetic test recommendations and diagnosis, our results demonstrate that nuanced phenotypes derived from EHR narratives effectively accelerate knowledge discovery and application for rare diseases.

phenotyping

rare diseases

electronic health records

large language models

natural language processing

machine learning in health