OBJECTIVES
To evaluate how cross-terminology mapping of International Classification of Diseases (ICD)-coded diagnoses is associated with preservation of diagnostic distinctions and traceability in electronic health record (EHR)-derived phenotypes for genomic research.
MATERIALS AND METHODS
We conducted a retrospecti...
Jordan G. Nestor, Sarath Krishna Murthy, Casey N. Ta et al.· JAMIA Journal of the America...· 0 citations
BACKGROUND
Precision medicine requires delivery and tracking of genome-informed risk assessments (GIRAs), often documented in unstructured electronic health record (EHR) notes, making large-scale evaluation reliant on labor-intensive manual chart review. Large language models (LLMs) offer a promising approach to automa...
Yi Xin, K. W. Davis, Wu-Chen Su et al.· JAMIA Journal of the America...· 0 citations
The electronic MEdical Records and GEnomics (eMERGE) network successfully generated and returned comprehensive risk profiles using logic and data specific to 11 conditions in a secure and semi-automated fashion employing a customized REDCap database.
Jennifer Morse, M. He, Hana Bangash et al.· JAMIA Open· 0 citations
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