Electronic health records and polygenic risk scores for predicting disease risk

R Li, Y Chen, MD Ritchie, JH Moore - Nature Reviews Genetics, 2020 - nature.com
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 …

Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
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 …

Predictive utility of polygenic risk scores for coronary heart disease in three major racial and ethnic groups

O Dikilitas, DJ Schaid, ML Kosel, RJ Carroll… - The American Journal of …, 2020 - cell.com
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 …

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 …

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 …

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 …

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 …

A flexible symbolic regression method for constructing interpretable clinical prediction models

WG La Cava, PC Lee, I Ajmal, X Ding, P Solanki… - NPJ Digital …, 2023 - nature.com
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 …

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 …