most citedGestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Text

4 citations · 4 across the 1 of their papers we have counts for

collaborators
Showing cs.CLShow all

1 paper · 1 filter

cs.CL2026

Integrating Chain-of-Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis from Clinical Notes

Zhanliang Wang, Da Wu, Quan Nguyen +1

Background: Several studies show that large language models (LLMs) struggle with phenotype-driven gene prioritization for rare diseases. These studies typically use Human Phenotype…