BioinformaticsbioRxivPreprint
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…·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.
DOI 10.1101/2020.06.08.138735