Electronic Medical Records for Genetic Research: Results of the eMERGE Consortium
Open accessAbstract
Clinical data captured in electronic medical records accurately identify cases and controls for genome-wide association studies.
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The previous PheWAS was conducted in the Electronic Medical Records and Genomics (eMERGE) Network, a sample combining participants enrolled from multiple healthcare systems.
“Conversely, the previous PheWAS was conducted in the Electronic Medical Records and Genomics (eMERGE) Network [39] which is a sample combining participants enrolled from multiple healthcare systems.”
From Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations (2022) · cites this paper as [39]
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References 44 · Cited by 336
- Authors
- Kho, A. N., Pacheco, J. A., Peissig, P. L., Rasmussen, L., Newton, K. M., Weston, N., Crane, P. K., Pathak, J., Chute, C. G., Bielinski, S. J., Kullo, I. J., Li, R., Manolio, T. A., Chisholm, R. L., & Denny, J. C.
- Affiliations
- Northwestern University (US)
- Marshfield Clinic Research Foundation (US)
- Kaiser Permanente Washington Health Research Institute (US)
- University of Washington (US)
- Mayo Clinic (US)
- National Human Genome Research Institute (US)
- Vanderbilt University (US)
- Corresponding author
- Kho, Abel N.
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2011-04-20
- Volume
- 3
- Issue
- 79
- Pages
- 79re1-79re1
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC3690272
- OpenAlex
- W2142071150
- Cited by
- 336
- References
- 44
- Citations by year
- 2026: 3 · 2025: 15 · 2024: 6 · 2023: 10 · 2022: 11 · 2021: 15 · 2020: 11 · 2019: 22 · 2018: 19 · 2017: 28 · 2016: 33 · 2015: 38 · 2014: 42 · 2013: 53 · 2012: 25
- FWCI
- 64.27
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (U01AG006781)
- National Human Genome Research Institute (U01HG004599, U01 HG04603, U01HG004609, U01HG004608, U01HG004610, U01HG006375, U01HG004603, U01 HG04599)
- National Center for Research Resources (UL1RR024975, UL1RR025741)
- Topics
- Health Sciences › Health Professions › Health Information Management › Electronic Health Records Systems
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Physical Sciences › Computer Science › Artificial Intelligence › Machine Learning in Healthcare
- Keywords
- electronic health records, eMERGE, genome-wide association study, predictive value, natural language processing, case finding
- MeSH terms
- Clinical Trials as Topic, Data Collection, Humans, Phenotype, Genomics, Genetic Research, Genome-Wide Association Study, Electronic Health Records
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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