Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
aiDIVA - Diagnostics of Rare Genetic Diseases Using Large Language Models
Dominic Boceck, Lucia Laugwitz, Marc Sturm…·Stephan Ossowski
aiDIVA uses AI and LLMs to prioritize causal genetic variants in rare diseases, achieving high accuracy in identifying top candidates.
DOI 10.1038/s41525-026-00611-x