Autor: Leqi Xu, Wangjie Zheng, Jiaqi Hu, Yingxin Lin, Jia Zhao, Gefei Wang, Tianyu Liu, Hongyu Zhao
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Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding
EEPRS integrates electronic health record-derived phenotype embeddings with GWAS summary statistics to improve polygenic risk prediction. Using embedding methods such as Word2Vec and GPT, EEPRS enhances both single- and multi-trait PRS performance and …