RDEmbed: A Sentence-Embedding Framework for Rare Disease Phenotype Representation and Phenotypic Similarity Analysis
Xinghua Wang, Jianlian Wang, Zijian Zhang, Hongfang Liu, Arif Harmanci
RDEmbed uses sentence embeddings to analyze rare disease phenotypes from clinical text, outperforming ontology-based methods in similarity analysis and clustering.
bioRxiv · Oct 19, 2026 · PreprintBioinformatics