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Open access
Oct 2026
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
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Review
Aug 2026
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.
· medRxiv · 0 citations
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Open access
Jun 2026
A role for EHMT2 in an autosomal recessive neurodevelopmental disorder is supported and anticipatory guidance for the patient’s family is allowed.
D. Rots, B. C. D. de Oliveira, L. M. L. Carvalho et al.
· Frontiers in Genetics · 0 citations
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