RD-Embed: Unified representations of rare-disease knowledge from clinical records
Tudor Groza, Freddie Tan, Noah Tian Run Lim, Maheshwaran Windersalam Shanmugasundar, Jhanvi Kappaganthu, Jane Andrea Lieviant, Neerja Karnani, Haichao Chen, Tien Yin Wong, Saumya Shekhar Jamuar
RD-Embed improves rare-disease diagnosis by aligning clinical text and SNOMED codes through a three-stage framework, achieving better retrieval performance than existing models.
medRxiv · Apr 4, 2026 · PreprintGenetic & Genomic Medicine