eMERGE Network Imputed GWAS for 41 Phenotypes

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Major outcomes in high-risk hypertensive patients randomized to angiotensin-converting enzyme inhibitor or calcium channel blocker vs diuretic: The Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT).

C. Furberg, J. Wright, B. Davis, et al.. (2002). JAMA. Cited 5,353 times. https://doi.org/10.1001/JAMA.288.23.2981

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study

A. Kho, M. Hayes, L. Rasmussen-Torvik, et al.. (2012). Journal of the American Medical Informatics Association : JAMIA. Cited 285 times. https://doi.org/10.1136/amiajnl-2011-000439

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.

J. Denny, D. Crawford, M. Ritchie, et al.. (2011). American journal of human genetics. Cited 251 times. https://doi.org/10.1016/j.ajhg.2011.09.008

Electronic health records-driven phenotyping: challenges, recent advances, and perspectives.

Jyotishman Pathak, A. Kho, J. Denny. (2013). Journal of the American Medical Informatics Association : JAMIA. Cited 246 times. https://doi.org/10.1136/amiajnl-2013-002428

Meta-Analysis of Genome-Wide Association Studies in African Americans Provides Insights into the Genetic Architecture of Type 2 Diabetes

M. Ng, D. Shriner, Brian H. Chen, et al.. (2014). PLoS Genetics. Cited 232 times. https://doi.org/10.1371/journal.pgen.1004517

Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes

M. Larson, Larry D. Atwood, Emelia J. Benjamin, et al.. (2007). BMC Medical Genetics. Cited 200 times. https://doi.org/10.1186/1471-2350-8-S1-S5

Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk

M. Ritchie, J. Denny, R. Zuvich, et al.. (2013). Circulation. Cited 175 times. https://doi.org/10.1161/CIRCULATIONAHA.112.000604

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

K. Shameer, J. Denny, K. Ding, et al.. (2013). Human Genetics. Cited 140 times. https://doi.org/10.1007/s00439-013-1355-7

Initial Combination Therapy Reduces the Risk of Cardiovascular Events in Hypertensive Patients: A Matched Cohort Study

A. Gradman, H. Parise, P. Lefebvre, et al.. (2013). Hypertension. Cited 128 times. https://doi.org/10.1161/HYPERTENSIONAHA.112.201566

A Genome-Wide Association Study of Red Blood Cell Traits Using the Electronic Medical Record

I. Kullo, K. Ding, H. Jouni, et al.. (2010). PLoS ONE. Cited 126 times. https://doi.org/10.1371/journal.pone.0013011

Importance of multi-modal approaches to effectively identify cataract cases from electronic health records

P. Peissig, L. Rasmussen, R. Berg, et al.. (2012). Journal of the American Medical Informatics Association : JAMIA. Cited 123 times. https://doi.org/10.1136/amiajnl-2011-000456

Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network

D. Crosslin, A. McDavid, Noah Weston, et al.. (2012). Human Genetics. Cited 111 times. https://doi.org/10.1007/s00439-011-1103-9

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm.

Gregory T. Jones, M. J. Bown, S. Gretarsdottir, et al.. (2013). Human molecular genetics. Cited 109 times. https://doi.org/10.1093/hmg/ddt141

Impact of data fragmentation across healthcare centers on the accuracy of a high-throughput clinical phenotyping algorithm for specifying subjects with type 2 diabetes mellitus

Wei-Qi Wei, C. Leibson, J. Ransom, et al.. (2012). Journal of the American Medical Informatics Association : JAMIA. Cited 104 times. https://doi.org/10.1136/amiajnl-2011-000597

Billing code algorithms to identify cases of peripheral artery disease from administrative data

Jin Fan, Adelaide M. Arruda-Olson, C. Leibson, et al.. (2013). Journal of the American Medical Informatics Association : JAMIA. Cited 101 times. https://doi.org/10.1136/amiajnl-2013-001827

A collaborative approach to developing an electronic health record phenotyping algorithm for drug-induced liver injury.

C. Overby, Jyotishman Pathak, O. Gottesman, et al.. (2013). Journal of the American Medical Informatics Association : JAMIA. Cited 75 times. https://doi.org/10.1136/amiajnl-2013-001930

Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example

B. Goldstein, J. Knowles, Elias L Salfati, et al.. (2014). Frontiers in Genetics. Cited 62 times. https://doi.org/10.3389/fgene.2014.00254

Genetic variation in the HLA region is associated with susceptibility to herpes zoster

D. Crosslin, D. Carrell, A. Burt, et al.. (2014). Genes and Immunity. Cited 56 times. https://doi.org/10.1038/gene.2014.51

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children

B. Namjou, M. Keddache, Keith A. Marsolo, et al.. (2013). Frontiers in Genetics. Cited 51 times. https://doi.org/10.3389/fgene.2013.00268

The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study

I. Kullo, K. Shameer, H. Jouni, et al.. (2014). Frontiers in Genetics. Cited 51 times. https://doi.org/10.3389/fgene.2014.00166

High Density GWAS for LDL Cholesterol in African Americans Using Electronic Medical Records Reveals a Strong Protective Variant in APOE

L. Rasmussen-Torvik, J. Pacheco, R. Wilke, et al.. (2012). Clinical and Translational Science. Cited 49 times. https://doi.org/10.1111/j.1752-8062.2012.00446.x

Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank.

M. Hall, S. Dudek, Robert J. Goodloe, et al.. (2013). Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. Cited 48 times. https://doi.org/10.1142/9789814583220_0020

Phenome-wide association studies (PheWASs) for functional variants

Zhan Ye, John Mayer, L. Ivacic, et al.. (2014). European Journal of Human Genetics. Cited 48 times. https://doi.org/10.1038/ejhg.2014.123

Genome-Wide Association Studies for Atherosclerotic Vascular Disease and Its Risk Factors

K. Ding, I. Kullo. (2009). Circulation: Cardiovascular Genetics. Cited 46 times. https://doi.org/10.1161/CIRCGENETICS.108.816751

Mortality and Morbidity During and After the Antihypertensive and Lipid‐Lowering Treatment to Prevent Heart Attack Trial

W. Cushman, B. Davis, S. Pressel, et al.. (2012). The Journal of Clinical Hypertension. Cited 45 times. https://doi.org/10.1111/j.1751-7176.2011.00568.x

Genetic Variants That Confer Resistance to Malaria Are Associated with Red Blood Cell Traits in African-Americans: An Electronic Medical Record-based Genome-Wide Association Study

K. Ding, M. de Andrade, T. Manolio, et al.. (2013). G3: Genes|Genomes|Genetics. Cited 44 times. https://doi.org/10.1534/g3.113.006452

Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections

Zhan Ye, D.A. Vasco, Tonia C. Carter, et al.. (2014). Frontiers in Genetics. Cited 42 times. https://doi.org/10.3389/fgene.2014.00125

A Highly Specific Algorithm for Identifying Asthma Cases and Controls for Genome-Wide Association Studies

J. Pacheco, P. Avila, Jason A. Thompson, et al.. (2009). AMIA ... Annual Symposium proceedings. AMIA Symposium. Cited 40 times.

The absence of longitudinal data limits the accuracy of high-throughput clinical phenotyping for identifying type 2 diabetes mellitus subjects

Wei-Qi Wei, C. Leibson, J. Ransom, et al.. (2013). International journal of medical informatics. Cited 39 times. https://doi.org/10.1016/j.ijmedinf.2012.05.015

Postapproval outcomes of juxtarenal aortic aneurysms treated with the Zenith fenestrated endovascular graft.

C. Vemuri, G. Oderich, Jason T. Lee, et al.. (2013). Journal of vascular surgery. Cited 37 times. https://doi.org/10.1016/j.jvs.2014.01.071

Identifying Abdominal Aortic Aneurysm Cases and Controls using Natural Language Processing of Radiology Reports

S. Sohn, Z. Ye, Hongfang Liu, et al.. (2013). AMIA Summits on Translational Science Proceedings. Cited 36 times.

Next-Generation Analysis of Cataracts: Determining Knowledge Driven Gene-Gene Interactions Using Biofilter, and Gene-Environment Interactions Using the PhenX Toolkit

S. Pendergrass, S. Verma, E. Holzinger, et al.. (2012). Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing. Cited 25 times. https://doi.org/10.1142/9789814447973_0015

An Autism Case History to Review the Systematic Analysis of Large-Scale Data to Refine the Diagnosis and Treatment of Neuropsychiatric Disorders

I. Kohane. (2015). Biological Psychiatry. Cited 22 times. https://doi.org/10.1016/j.biopsych.2014.05.024

A Rigorous Algorithm To Detect And Clean Inaccurate Adult Height Records Within EHR Systems

Arun Muthalagu, Jennifer A. Pacheco, Sharon Aufox, et al.. (2014). Applied Clinical Informatics. Cited 13 times. https://doi.org/10.4338/ACI-2013-09-RA-0074

Extension of GWAS results for lipid-related phenotypes to extreme obesity using electronic health record (EHR) data and the Metabochip

A. Parihar, G. Wood, Xin Chu, et al.. (2014). Frontiers in Genetics. Cited 7 times. https://doi.org/10.3389/fgene.2014.00222
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