Genetic & Genomic MedicinemedRxivPreprint
Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies
Pankhuri Singhal, Zilinghan Li, Ze Xiao Yang…·Anurag Verma
This paper develops an open-source LLM-based pipeline to identify patients with rare genetic aortopathies using clinical notes, achieving high accuracy in recommending genetic testing.