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D. Smedley

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Open access Aug 2026

AI semantics for biomedical data integration

Researchers increasingly need to explore hypotheses that span multimodal data across different scales, organisms, and domains. In practice, this requires connecting knowledge across fragmented databases with incompatible APIs and heterogeneous annotation practices. Large language model (LLM) agents can automate this da...

James A. McLaughlin, Aleix Puig-Barbe, Arwa Ibrahim et al. · 1 citation
Open access Sep 2026

Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing.

It is demonstrated that serum proteomics can support rare disease diagnosis and identify disease-causing genes in patients undiagnosed after GS, although successful implementation will likely depend on tissue specificity of protein expression, detectability in blood, proteomic platform coverage, and sensitivity.

J. Carrasco-Zanini, J. Andrade, M. Pietzner et al. · 0 citations

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