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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…
q-bio.GN2025★ 1 cited
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…