Speaker:

Chunhua Weng, Ph.D.,
Columbia University

Abstract:

Integration of detailed phenotypic information with genetic data is well established to facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotypic information, electronic health records (EHRs) have the potential to empower diagnostic variant interpretation. However, how to accurately and efficiently extract phenotypes from heterogeneous EHR narratives remains a challenge. In this talk, I will describe a high-throughput EHR phenotype extraction and analysis framework that performs Human Phenotype Ontology (HPO) concept extraction and normalization from EHR narratives and prioritizes disease genes based on the HPO-coded phenotypic manifestations. Our results on four retrospective cohorts from multiple institutions show the promise of leveraging EHR data to automate phenotype-driven analysis of clinical exomes or genomes, facilitating the implementation of genomic medicine on scale.