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Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients.
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Leveraging Foundational Models in Computational Biology: Validation, Understanding, and Innovation.
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Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms.
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Disease progression strikingly differs in research and real-world Parkinson's populations.
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Emerging therapeutic drug monitoring technologies: considerations and opportunities in precision medicine.
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Disease progression strikingly differs in research and real-world Parkinson's populations.
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Predicting seizure recurrence after an initial seizure-like episode from routine clinical notes using large language models: a retrospective cohort study.
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