Evaluating Large Language Models for Gene-to-Phenotype Mapping: The Critical Role of Full-Text Database Access
Nicolas Matthew Suhardi, Anastasia Oktarina, Julia S. Retzky, Damanpreet Dhillon, Dona Ninan, Mathias P. Bostrom, Yang Xu, Vincentius Jeremy Suhardi
This study evaluates LLMs for gene-to-phenotype mapping, finding that models with dedicated databases achieve >80% accuracy and provide supporting literature.
bioRxiv · Jun 11, 2025 · PreprintGenetics