Article
Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm.
PloS one - 1 Jan 2023
Joo Yoonjung Yoonie, Pacheco Jennifer A, Thompson William K, Rasmussen-Torvik Laura J, Rasmussen Luke V, Lin Frederick T J, Andrade Mariza de, Borthwick Kenneth M, Bottinger Erwin, Cagan Andrew, Carrell David S, Denny Joshua C, Ellis Stephen B, Gottesman Omri, Linneman James G, Pathak Jyotishman, Peissig Peggy L, Shang Ning, Tromp Gerard, Veerappan Annapoorani, Smith Maureen E, Chisholm Rex L, Gawron Andrew J, Hayes M Geoffrey, Kho Abel N
Abstract excerpt
OBJECTIVE: Diverticular disease (DD) is one of the most prevalent conditions encountered by gastroenterologists, affecting ~50% of Americans before the age of 60. Our aim was to identify genetic risk variants and clinical phenotypes associated with DD, leveraging multiple electronic health record (EHR) data sources of 91,166 multi-ancestry participants with a Natural Language Processing (NLP) technique. MATERIALS...
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