Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

JC Denny, L Bastarache, MD Ritchie, RJ Carroll… - Nature …, 2013 - nature.com
Candidate gene and genome-wide association studies (GWAS) have identified genetic
variants that modulate risk for human disease; many of these associations require further …

Benefit of preemptive pharmacogenetic information on clinical outcome

DM Roden, SL Van Driest, JD Mosley… - Clinical …, 2018 - Wiley Online Library
The development of new knowledge around the genetic determinants of variable drug action
has naturally raised the question of how this new knowledge can be used to improve the …

Predictive accuracy of a polygenic risk score compared with a clinical risk score for incident coronary heart disease

JD Mosley, DK Gupta, J Tan, J Yao, QS Wells… - Jama, 2020 - jamanetwork.com
Importance Polygenic risk scores comprising millions of single-nucleotide polymorphisms
(SNPs) could be useful for population-wide coronary heart disease (CHD) screening …

Current practices in LC-MS untargeted metabolomics: A scoping review on the use of pooled quality control samples

CD Broeckling, RD Beger, LL Cheng… - Analytical …, 2023 - ACS Publications
Untargeted metabolomics is an analytical approach with numerous applications serving as
an effective metabolic phenotyping platform to characterize small molecules within a …

FOXA1 is an essential determinant of ERα expression and mammary ductal morphogenesis

GM Bernardo, KL Lozada, JD Miedler… - …, 2010 - journals.biologists.com
FOXA1, estrogen receptor α (ERα) and GATA3 independently predict favorable outcome in
breast cancer patients, and their expression correlates with a differentiated, luminal tumor …

Genome-and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

MD Ritchie, JC Denny, RL Zuvich, DC Crawford… - Circulation, 2013 - Am Heart Assoc
Background—ECG QRS duration, a measure of cardiac intraventricular conduction, varies≈
2-fold in individuals without cardiac disease. Slow conduction may promote re-entrant …

[PDF][PDF] Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease

EK Silverman, LJ Palmer, JD Mosley, M Barth… - The American Journal of …, 2002 - cell.com
Chronic obstructive pulmonary disease (COPD) is a common, complex disease associated
with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction; …

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

L Bastarache, JJ Hughey, S Hebbring, J Marlo, W Zhao… - Science, 2018 - science.org
Genetic association studies often examine features independently, potentially missing
subpopulations with multiple phenotypes that share a single cause. We describe an …

Screening for Acute IKr Block Is Insufficient to Detect Torsades de Pointes Liability: Role of Late Sodium Current

T Yang, YW Chun, DM Stroud, JD Mosley… - Circulation, 2014 - Am Heart Assoc
Background—New drugs are routinely screened for I Kr blocking properties thought to
predict QT prolonging and arrhythmogenic liability. However, recent data suggest that …

Coronary artery calcium score and polygenic risk score for the prediction of coronary heart disease events

SS Khan, WS Post, X Guo, J Tan, F Zhu, D Bos… - Jama, 2023 - jamanetwork.com
Importance Coronary artery calcium score and polygenic risk score have each separately
been proposed as novel markers to identify risk of coronary heart disease (CHD), but no …