Electronic health records and polygenic risk scores for predicting disease risk
Accurate prediction of disease risk based on the genetic make-up of an individual is
essential for effective prevention and personalized treatment. Nevertheless, to date …
essential for effective prevention and personalized treatment. Nevertheless, to date …
Genomic medicine for kidney disease
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
[HTML][HTML] Returning integrated genomic risk and clinical recommendations: The eMERGE study
JE Linder, A Allworth, HT Bland, PJ Caraballo… - Genetics in …, 2023 - Elsevier
Purpose Assessing the risk of common, complex diseases requires consideration of clinical
risk factors as well as monogenic and polygenic risks, which in turn may be reflected in …
risk factors as well as monogenic and polygenic risks, which in turn may be reflected in …
Predictive utility of polygenic risk scores for coronary heart disease in three major racial and ethnic groups
Because polygenic risk scores (PRSs) for coronary heart disease (CHD) are derived from
mainly European ancestry (EA) cohorts, their validity in African ancestry (AA) and Hispanic …
mainly European ancestry (EA) cohorts, their validity in African ancestry (AA) and Hispanic …
Using electronic health records to generate phenotypes for research
SA Pendergrass, DC Crawford - Current protocols in human …, 2019 - Wiley Online Library
Electronic health records contain patient‐level data collected during and for clinical care.
Data within the electronic health record include diagnostic billing codes, procedure codes …
Data within the electronic health record include diagnostic billing codes, procedure codes …
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 …
biomedical research. One important research application of EHRs is the identification of …
The eMERGE genotype set of 83,717 subjects imputed to~ 40 million variants genome wide and association with the herpes zoster medical record phenotype
IB Stanaway, TO Hall, EA Rosenthal… - Genetic …, 2019 - Wiley Online Library
Abstract The Electronic Medical Records and Genomics (eMERGE) network is a network of
medical centers with electronic medical records linked to existing biorepository samples for …
medical centers with electronic medical records linked to existing biorepository samples for …
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 …
A flexible symbolic regression method for constructing interpretable clinical prediction models
Abstract Machine learning (ML) models trained for triggering clinical decision support (CDS)
are typically either accurate or interpretable but not both. Scaling CDS to the panoply of …
are typically either accurate or interpretable but not both. Scaling CDS to the panoply of …
Importance of diversity in precision medicine: Generalizability of genetic associations across ancestry groups toward better identification of disease susceptibility …
LA Cruz, JN Cooke Bailey… - Annual review of …, 2023 - annualreviews.org
Genome-wide association studies (GWAS) revolutionized our understanding of common
genetic variation and its impact on common human disease and traits. Developed and …
genetic variation and its impact on common human disease and traits. Developed and …