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 …
Stroke genetics informs drug discovery and risk prediction across ancestries
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …
death worldwide—were conducted predominantly in populations of European ancestry …
Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …
dysfunction is poorly understood. In the present study, we define the genetic association with …
A large-scale genome-wide association study meta-analysis of cannabis use disorder
Background Variation in liability to cannabis use disorder has a strong genetic component
(estimated twin and family heritability about 50–70%) and is associated with negative …
(estimated twin and family heritability about 50–70%) and is associated with negative …
Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
Association of telomere length with risk of disease and mortality
Importance Telomeres protect DNA from damage. Because they shorten with each mitotic
cycle, leukocyte telomere length (LTL) serves as a mitotic clock. Reduced LTL has been …
cycle, leukocyte telomere length (LTL) serves as a mitotic clock. Reduced LTL has been …
Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations
Alcohol consumption level and alcohol use disorder (AUD) diagnosis are moderately
heritable traits. We conduct genome-wide association studies of these traits using …
heritable traits. We conduct genome-wide association studies of these traits using …
[HTML][HTML] Map** ICD-10 and ICD-10-CM codes to phecodes: workflow development and initial evaluation
Background: The phecode system was built upon the International Classification of
Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association …
Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association …