Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic Aortopathies
Pankhuri Singhal, Zilinghan Li, Ze Xiao Yang, Tarak Nandi, Colleen Morse, Zachary Rodriguez, Alex Rodriguez, Volodymyr Kindratenko, Giorgio Sirugo, Reed Edwin Pyeritz, Theodore G. Drivas, Ravi Madduri, 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.
medRxiv · Sep 5, 2025 · PreprintGenetic & Genomic Medicine