Extracting research-quality phenotypes from electronic health records to support precision medicine
The convergence of two rapidly developing technologies-high-throughput genotyping and
electronic health records (EHRs)-gives scientists an unprecedented opportunity to utilize …
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 …
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 …
records (EHRs) have accelerated the development of genomic medicine, bringing promising …
Mining electronic health records: towards better research applications and clinical care
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 …
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 …
increasing computing resources has led to an explosion of clinical genomic knowledge in …
Opportunities and challenges for biomarker discovery using electronic health record data
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 …
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 …
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 …
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
Integration of detailed phenotype information with genetic data is well established to
facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype …
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
Objective The combination of phenomic data from electronic health records (EHR) and
clinical data repositories with dense biological data has enabled genomic and …
clinical data repositories with dense biological data has enabled genomic and …