To enhance phenotype recognition in clinical notes of genetic diseases, we developed two models—PhenoBCBERT and PhenoGPT—for expanding the vocabularies of Human …
The Knowledge Management Center (KMC) for the Illuminating the Druggable Genome (IDG) project aims to aggregate, update, and articulate protein-centric data knowledge for …
Human genetic disorders, such as Down syndrome, have a wide variety of clinical phenotypic presentations, and characterizing each nuanced phenotype and subtype can be …
A Nixon, L Fang, JM Havrilla… - Chemistry & Biodiversity, 2022 - Wiley Online Library
Clinical notes from electronic health records (EHRs) contain a large amount of clinical phenotype data on patients that can provide insights into the phenotypic presentation of …