1 citations · 1 across the 3 of their papers we have counts for
4 papers
Documenting Trofinetide Treatment Phenotypes in Rett Syndrome with a Dual-LLM Consensus Pipeline
Daniel Palacios, Guantong Qi, Mikael Guzman Karlsson +6
Objective: Trofinetide, approved in 2023 as the first Rett syndrome treatment, lacks scalable real-world monitoring because chart review is labor-intensive. We developed a dual lar…
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…
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…
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…