GeneticsPLoS GeneticsPeer-reviewed
PERADIGM: Phenotype Embedding Similarity-based Rare Disease Gene Mapping
Wangjie Zheng, Yuhan Xie, Jianlei Gu…·Hongyu Zhao
PERADIGM identifies rare disease-associated genes by integrating phenotype embeddings and patient similarity, outperforming traditional methods in detecting candidate genes for ADPKD, Marfan syndrome, and NF1.