Article

Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies

2025-09-07

Abstract excerpt

<h4>ABSTRACT</h4> Rare genetic aortopathies are frequently undiagnosed due to phenotypic heterogeneity, and delayed diagnosis can lead to fatal cardiac outcomes. While genetic testing can enable early proactive interventions, it relies on primary care physicians to recognize a genetic basis for symptoms and then refer patients to clinical genetics. Broad-scale screening methods are needed to identify cases that d...

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Literature Corpus work: c773dfa1-baea-5828-8eae-0ed4aa87ab46
DOI: 10.1101/2025.09.05.25333227

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