LA-MARRVEL: A Knowledge-Grounded, Language-Aware LLM Framework for Clinically Robust Rare Disease Gene Prioritization

ArXi:2511.02263v4 Announce Type: replace-cross Rare disease diagnosis requires matching variant-bearing genes to complex patient phenotypes across large and heterogeneous evidence sources. This process remains time-intensive in current clinical interpretation pipelines. To overcome these limitations, We present LA-MARRVEL, a knowledge-grounded, language-aware LLM framework and designed for clinical robustness and practical deployment.