Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record
Elisabeth A. Rosenthal, Wei‐Qi Wei, Yuan Luo, Bahram Namjou‐Khales, Daniel J. Schaid, Edward D. Esplin, Michael Lape, Leah Claire Kottyan, Jennifer A. Pacheco, Chunhua Weng, Adam Samuel Gordon, Iftikhar J. Kullo, David R. Crosslin, William M. Grady, Li Hsu, , Gail Pairitz Jarvik
The paper uses a polygenic risk score for colorectal cancer in a PheWAS to find genetic correlations with other phenotypes from electronic health records.
medRxiv · Feb 26, 2025 · PreprintGenetic & Genomic Medicine