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Open Access
Peer-reviewed
Research Article
Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm
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Yoonjung Yoonie Joo,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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Jennifer A. Pacheco,
Roles Conceptualization, Data curation, Investigation, Methodology, Resources, Writing – original draft, Writing – review & editing
Affiliation Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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William K. Thompson,
Roles Data curation, Formal analysis, Methodology, Software
Affiliation Center for Health Information Partnerships, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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Laura J. Rasmussen-Torvik,
Roles Data curation, Resources, Validation, Writing – review & editing
Affiliation Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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Luke V. Rasmussen,
Roles Data curation, Resources, Validation, Writing – review & editing
Affiliation Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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Frederick T. J. Lin,
Roles Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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Mariza de Andrade,
Roles Data curation, Writing – review & editing
Affiliation College of Medicine, Mayo Clinic, Rochester, MN, United States of America
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Kenneth M. Borthwick,
Roles Data curation, Writing – review & editing
Affiliation Geisinger, Danville, PA, United States of America
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Erwin Bottinger,
Roles Data curation, Writing – review & editing
Affiliation Icahn School of Medicine at Mount Sinai, New York, NY, United States of America
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Andrew Cagan,
Roles Writing – review & editing
Affiliation Partners Healthcare, Charlestown, MA, United States of America
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David S. Carrell,
Roles Data curation, Writing – review & editing
Affiliation Kaiser Permanente Washington Health Research Institute, Seattle, Washington, United States of America
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Joshua C. Denny,
Roles Data curation, Methodology, Writing – review & editing
Affiliation Departments of Biomedical Informatics and Medicine, Vanderbilt University, Nashville, TN, United States of America
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Stephen B. Ellis,
Roles Data curation
Affiliation The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America
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Omri Gottesman,
Roles Data curation
Affiliation The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America
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James G. Linneman,
Roles Data curation
Affiliation Office of Research Computing and Analytics, Marshfield Clinic Research Institute, Marshfield, WI, United States of America
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Jyotishman Pathak,
Roles Data curation
Affiliation Department of Healthcare Policy and Research, Weill Cornell Medical College, New York, NY, United States of America
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Peggy L. Peissig,
Roles Data curation
Affiliation Center for Precision Medicine Research, Marshfield Clinic Research Institute, Marshfield, WI, United States of America
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Ning Shang,
Roles Data curation
Affiliation Department of Biomedical Informatics, Columbia University, New York, NY, United States of America
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Gerard Tromp,
Roles Data curation
Affiliation Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa
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Annapoorani Veerappan,
Roles Investigation, Validation
Affiliation Department of Medicine, Gastroenterology, Duke University, Durham, NC, United States of America
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Maureen E. Smith,
Roles Conceptualization, Funding acquisition, Project administration, Resources, Writing – review & editing
Affiliation Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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Rex L. Chisholm,
Roles Funding acquisition, Project administration, Resources, Writing – review & editing
Affiliation Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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Andrew J. Gawron,
Roles Investigation, Supervision, Writing – review & editing
Affiliation Division of Gastroenterology, Hepatology & Nutrition, University of Utah, Salt Lake City, UT, United States of America
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M. Geoffrey Hayes ,
Roles Conceptualization, Funding acquisition, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing
* E-mail: ghayes@northwestern.edu (MGH); a-kho@northwestern.edu (ANK)
¶‡ MGH and ANK are jointly supervised to this work.
Affiliations Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America, Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America, Department of Anthropology, Northwestern University, Evanston, IL, United States of America
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Abel N. Kho
Roles Conceptualization, Funding acquisition, Investigation, Methodology, Resources, Supervision, Writing – original draft, Writing – review & editing
* E-mail: ghayes@northwestern.edu (MGH); a-kho@northwestern.edu (ANK)
¶‡ MGH and ANK are jointly supervised to this work.
Affiliations Center for Health Information Partnerships, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America, Division of General Internal Medicine and Geriatrics, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, United States of America
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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
- 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 Bottinger,
- Andrew Cagan
- Published: May 17, 2023
- https://doi.org/10.1371/journal.pone.0283553