Multi-ancestry Genome- and Phenome-wide Association Studies of Diverticular Disease in Electronic Health Records with Natural Language Processing enriched phenotype algorithm
Yoonjung Yoonie Joo, Jennifer A. Pacheco, William K Thompson, Laura J. Rasmussen‐Torvik, Luke V. Rasmussen, Frederick T. J. Lin, Mariza de Andrade, Kenneth M. Borthwick, Erwin P. Böttinger, Andrew Cagan, David Carrell, Joshua C. Denny, Stephen B. Ellis, Omri Gottesman, James G. Linneman, , M. Geoffrey Hayes
This study uses NLP to identify diverticular disease from EHRs and performs GWAS and PheWAS across multiple ancestries to find genetic risk variants and clinical associations.
bioRxiv · Jun 8, 2020 · PreprintBioinformatics