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Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm

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 (E...

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Detalles Bibliográficos
Autores principales: Joo, Yoonjung Yoonie, Pacheco, Jennifer A., Thompson, William K., Rasmussen-Torvik, Laura J., Rasmussen, Luke V., Lin, Frederick T. J., de Andrade, Mariza, 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191288/
https://www.ncbi.nlm.nih.gov/pubmed/37196047
http://dx.doi.org/10.1371/journal.pone.0283553