3 papers
q-bio.GN2026
RareCollab: an LLM-powered framework for multimodal reasoning in Mendelian disease diagnosis
Guantong Qi, Jiasheng Wang, Mei Ling Chong +15
Rare disease diagnosis increasingly relies on integrating genomic, phenotypic and transcriptomic evidence, yet these signals remain difficult to reconcile within a common interpret…
cs.LG2025
ConSol: Sequential Probability Ratio Testing to Find Consistent LLM Reasoning Paths Efficiently
Jaeyeon Lee, Guantong Qi, Matthew Brady Neeley +2
Recent advancements in large language models (LLMs) integrating explicit reasoning, such as OpenAI's o3-mini, DeepSeek-R1, and QWQ-32B, enable smaller models to solve complex tasks…
q-bio.GN2025
Survey and Improvement Strategies for Gene Prioritization with Large Language Models
Matthew Neeley, Guantong Qi, Guanchu Wang +9
Rare diseases are challenging to diagnose due to limited patient data and genetic diversity. Despite advances in variant prioritization, many cases remain undiagnosed. While large…