Pheno+: An Electronic Health Record-Integrated, Clinician-in-the-Loop Application for Efficient Phenotyping in Clinical Genomics

Objective To develop and evaluate Pheno+, an electronic health record (EHR)-integrated application that streamlines the generation of structured phenotypes for genomic testing and analysis. Materials and Methods We developed Pheno+ as a Substitutable Medical Applications and Reusable Technologies on Fast Healthcare Interoperability Resources (SMART on FHIR) application embedded within the University of Utah Health EHR. Pheno+ retrieves clinician-selected clinical notes and applies ClinPhen, a natural language processing tool that identifies candidate Human Phenotype Ontology (HPO) terms from c

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