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 …

Phenome-wide association studies as a tool to advance precision medicine

JC Denny, L Bastarache… - Annual review of genomics …, 2016 - annualreviews.org
Beginning in the early 2000s, the accumulation of biospecimens linked to electronic health
records (EHRs) made possible genome-phenome studies (ie, comparative analyses of …

The role of electronic health records in advancing genomic medicine

JE Linder, L Bastarache, JJ Hughey… - Annual review of …, 2021 - annualreviews.org
Recent advances in genomic technology and widespread adoption of electronic health
records (EHRs) have accelerated the development of genomic medicine, bringing promising …

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 …

Chapter 13: Mining electronic health records in the genomics era

JC Denny - PLoS computational biology, 2012 - journals.plos.org
The combination of improved genomic analysis methods, decreasing genotyping costs, and
increasing computing resources has led to an explosion of clinical genomic knowledge in …

Opportunities and challenges for biomarker discovery using electronic health record data

P Singhal, ALM Tan, TG Drivas, KB Johnson… - Trends in Molecular …, 2023 - cell.com
Electronic health records (EHRs) have become increasingly relied upon as a source for
biomedical research. One important research application of EHRs is the identification of …

Using phecodes for research with the electronic health record: from PheWAS to PheRS

L Bastarache - Annual review of biomedical data science, 2021 - annualreviews.org
Electronic health records (EHRs) are a rich source of data for researchers, but extracting
meaningful information out of this highly complex data source is challenging. Phecodes …

Electronic health records: the next wave of complex disease genetics

BN Wolford, CJ Willer, I Surakka - Human molecular genetics, 2018 - academic.oup.com
The combination of electronic health records (EHRs) with genetic data has ushered in the
next wave of complex disease genetics. Population-based biobanks and other large cohorts …

Deep phenotyping on electronic health records facilitates genetic diagnosis by clinical exomes

JH Son, G Xie, C Yuan, L Ena, Z Li, A Goldstein… - The American Journal of …, 2018 - cell.com
Integration of detailed phenotype information with genetic data is well established to
facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype …

Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods

RL Richesson, J Sun, J Pathak, AN Kho… - Artificial intelligence in …, 2016 - Elsevier
Objective The combination of phenomic data from electronic health records (EHR) and
clinical data repositories with dense biological data has enabled genomic and …