Mining electronic health records: towards better research applications and clinical care

PB Jensen, LJ Jensen, S Brunak - Nature Reviews Genetics, 2012 - nature.com
Clinical data describing the phenotypes and treatment of patients represents an underused
data source that has much greater research potential than is currently realized. Mining of …

[HTML][HTML] The electronic medical records and genomics (eMERGE) network: past, present, and future

O Gottesman, H Kuivaniemi, G Tromp, WA Faucett… - Genetics in …, 2013 - nature.com
Abstract The Electronic Medical Records and Genomics Network is a National Human
Genome Research Institute–funded consortium engaged in the development of methods …

Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges

B Piasecka, D Duffy, A Urrutia… - Proceedings of the …, 2018 - National Acad Sciences
The contribution of host genetic and nongenetic factors to immunological differences in
humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral …

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network

KM Newton, PL Peissig, AN Kho… - Journal of the …, 2013 - academic.oup.com
Background Genetic studies require precise phenotype definitions, but electronic medical
record (EMR) phenotype data are recorded inconsistently and in a variety of formats …

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

C Sidore, F Busonero, A Maschio, E Porcu, S Naitza… - Nature …, 2015 - nature.com
We report∼ 17.6 million genetic variants from whole-genome sequencing of 2,120
Sardinians; 22% are absent from previous sequencing-based compilations and are …

[HTML][HTML] Secondary use of clinical data: the Vanderbilt approach

I Danciu, JD Cowan, M Basford, X Wang, A Saip… - Journal of biomedical …, 2014 - Elsevier
The last decade has seen an exponential growth in the quantity of clinical data collected
nationwide, triggering an increase in opportunities to reuse the data for biomedical research …

Design and anticipated outcomes of the eMERGE‐PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

LJ Rasmussen‐Torvik, SC Stallings… - Clinical …, 2014 - Wiley Online Library
We describe here the design and initial implementation of the eMERGE‐PGx project.
eMERGE‐PGx, a partnership of the Electronic Medical Records and Genomics Network and …

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

JC Denny, DC Crawford, MD Ritchie… - The American Journal of …, 2011 - cell.com
We repurposed existing genotypes in DNA biobanks across the Electronic Medical Records
and Genomics network to perform a genome-wide association study for primary …

Electronic medical record phenotyping using the anchor and learn framework

Y Halpern, S Horng, Y Choi… - Journal of the American …, 2016 - academic.oup.com
ABSTRACT Background Electronic medical records (EMRs) hold a tremendous amount of
information about patients that is relevant to determining the optimal approach to patient …

[HTML][HTML] Extracting research-quality phenotypes from electronic health records to support precision medicine

WQ Wei, JC Denny - Genome medicine, 2015 - Springer
The convergence of two rapidly developing technologies-high-throughput genotyping and
electronic health records (EHRs)-gives scientists an unprecedented opportunity to utilize …