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Author

D. P. Maripuri

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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 Aug 2026

Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

Six patients from five unrelated families with biallelic, rare IRAK4 variants presenting with severe, persistent autoinflammation without immunodeficiency are identified and a strongly concordant clinical and radiological phenotype emerges of IRAK4-mediated autoinflammation, expanding the phenotypic and mutational spec...

E. Wiener, R. Rius, C. D. Dominguez Gonzalez et al. · 0 citations

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