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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 …
Large-scale genome-wide association study of coronary artery disease in genetically diverse populations
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …
Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis
Parkinson's disease is a progressive neurodegenerative movement disorder with a long
latent phase and currently no disease-modifying treatments. Reliable predictive biomarkers …
latent phase and currently no disease-modifying treatments. Reliable predictive biomarkers …
A generalized linear mixed model association tool for biobank-scale data
Compared with linear mixed model-based genome-wide association (GWA) methods,
generalized linear mixed model (GLMM)-based methods have better statistical properties …
generalized linear mixed model (GLMM)-based methods have better statistical properties …
Assessment of electronic health record for cancer research and patient care through a sco** review of cancer natural language processing
PURPOSE The advancement of natural language processing (NLP) has promoted the use
of detailed textual data in electronic health records (EHRs) to support cancer research and …
of detailed textual data in electronic health records (EHRs) to support cancer research and …
Sleep patterns and risk of chronic disease as measured by long-term monitoring with commercial wearable devices in the All of Us Research Program
Poor sleep health is associated with increased all-cause mortality and incidence of many
chronic conditions. Previous studies have relied on cross-sectional and self-reported survey …
chronic conditions. Previous studies have relied on cross-sectional and self-reported survey …
Rare and common genetic determinants of metabolic individuality and their effects on human health
Garrod's concept of 'chemical individuality'has contributed to comprehension of the
molecular origins of human diseases. Untargeted high-throughput metabolomic …
molecular origins of human diseases. Untargeted high-throughput metabolomic …
TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease
Somatic mutations in blood indicative of clonal hematopoiesis of indeterminate potential
(CHIP) are associated with an increased risk of hematologic malignancy, coronary artery …
(CHIP) are associated with an increased risk of hematologic malignancy, coronary artery …
An atlas of genetic scores to predict multi-omic traits
The use of omic modalities to dissect the molecular underpinnings of common diseases and
traits is becoming increasingly common. But multi-omic traits can be genetically predicted …
traits is becoming increasingly common. But multi-omic traits can be genetically predicted …
Leveraging electronic health records and knowledge networks for Alzheimer's disease prediction and sex-specific biological insights
Identification of Alzheimer's disease (AD) onset risk can facilitate interventions before
irreversible disease progression. We demonstrate that electronic health records from the …
irreversible disease progression. We demonstrate that electronic health records from the …