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Krzysztof Kiryluk

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Open access Oct 2026

Lost in transformation: diagnostic aggregation and semantic drift in ICD-derived kidney phenotypes.

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. · 0 citations
Review Open access Oct 2026

Guideline-grounded large language models for extracting genome-informed clinical recommendations from electronic health records.

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. · 0 citations
Review Open access Jul 2026

Using a translational data platform to create clinical-grade genome-informed risk assessments

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. · 0 citations

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