Finding and Phenotyping Rare Disease in the EHR

Explore advanced computational methods for identifying and characterizing rare diseases using electronic health record (EHR) data in this 41-minute conference talk from the Computational Genomics Summer Institute. Learn how to leverage large-scale EHR datasets containing millions of patient records to detect patterns and phenotypes associated with rare genetic conditions. Discover innovative approaches for mining clinical data spanning decades to understand trends in genetic testing and disease presentation. Examine methodologies for next-generation phenotyping using enhanced coding systems like phecodeX that improve discovery research capabilities in medical phenomics. Understand how pathogenic variants in hereditary cancer genes can be associated with multiple diseases through comprehensive EHR analysis. Gain insights into tracking the phenotypic presentation of Mendelian diseases across diagnostic trajectories and how computational tools can transform rare disease research by extracting meaningful patterns from routine clinical care data.