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 …
Unravelling the human genome–phenome relationship using phenome-wide association studies
Advances in genoty** technology have, over the past decade, enabled the focused
search for common genetic variation associated with human diseases and traits. With the …
search for common genetic variation associated with human diseases and traits. With the …
Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies
In genome-wide association studies (GWAS) for thousands of phenotypes in large biobanks,
most binary traits have substantially fewer cases than controls. Both of the widely used …
most binary traits have substantially fewer cases than controls. Both of the widely used …
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
Candidate gene and genome-wide association studies (GWAS) have identified genetic
variants that modulate risk for human disease; many of these associations require further …
variants that modulate risk for human disease; many of these associations require further …
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record
Objective To compare three grou**s of Electronic Health Record (EHR) billing codes for
their ability to represent clinically meaningful phenotypes and to replicate known genetic …
their ability to represent clinically meaningful phenotypes and to replicate known genetic …
The phenotypic legacy of admixture between modern humans and Neandertals
Many modern human genomes retain DNA inherited from interbreeding with archaic
hominins, such as Neandertals, yet the influence of this admixture on human traits is largely …
hominins, such as Neandertals, yet the influence of this admixture on human traits is largely …
Natural language processing for EHR-based computational phenoty**
This article reviews recent advances in applying natural language processing (NLP) to
Electronic Health Records (EHRs) for computational phenoty**. NLP-based …
Electronic Health Records (EHRs) for computational phenoty**. NLP-based …
Phenome-wide association studies as a tool to advance precision medicine
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 …
[HTML][HTML] Semi-supervised learning of the electronic health record for phenotype stratification
Patient interactions with health care providers result in entries to electronic health records
(EHRs). EHRs were built for clinical and billing purposes but contain many data points about …
(EHRs). EHRs were built for clinical and billing purposes but contain many data points about …
Extracting research-quality phenotypes from electronic health records to support precision medicine
The convergence of two rapidly develo** technologies-high-throughput genoty** and
electronic health records (EHRs)-gives scientists an unprecedented opportunity to utilize …
electronic health records (EHRs)-gives scientists an unprecedented opportunity to utilize …