eMERGE Publications

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Below is a list of selected publications from the eMERGE Network.

Participant choices for return of genomic results in the eMERGE Network
Genet Med · November, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants
Genet Med · September, 2020
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups
Am J Hum Genet · May, 2020
Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network
J Biomed Inform · November, 2019
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
J Hum Genet · September, 2019
Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2
Acta Neurol Scand · September, 2019
Enrichment sampling for a multi-site patient survey using electronic health records and census data
J Am Med Inform Assoc · March, 2019
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype
Genet Epidemiol · February, 2019
Leveraging electronic health records to assess the role of ADRB2 single nucleotide polymorphisms in predicting exacerbation frequency in asthma patients
Pharmacogenet Genomics · November, 2018
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs
Healthcare (Basel) · July, 2018
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study
J Mol Diagn · July, 2017
Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US
Am J Hum Genet · March, 2017
Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions
BMC Med Res Methodol · November, 2016
Practical considerations in genomic decision support: The eMERGE experience
J Pathol Inform · September, 2015
Practical guidance on informed consent for pediatric participants in a biorepository
Mayo Clin Proc · November, 2014
Return of genomic results to research participants: the floor, the ceiling, and the choices in between
Am J Hum Genet · June, 2014
Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts
Front Genet · April, 2014
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
Front Genet · March, 2014
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future
Journal Article · October, 2013