2 papers
q-bio.QM2026
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…
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…