Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
…, JD Mosley, JR Field, JM Pulley, AH Ramirez… - 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 study to …
that modulate risk for human disease; many of these associations require further study to …
Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project
…, CL Vnencak‐Jones, AH Ramirez… - Clinical …, 2012 - Wiley Online Library
The promise of “personalized medicine” guided by an understanding of each individual's
genome has been fostered by increasingly powerful and economical methods to acquire …
genome has been fostered by increasingly powerful and economical methods to acquire …
[PDF][PDF] Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record
…, JC Denny, DC Crawford, AH Ramirez… - The American Journal of …, 2010 - cell.com
Large-scale DNA databanks linked to electronic medical record (EMR) systems have been
proposed as an approach for rapidly generating large, diverse cohorts for discovery and …
proposed as an approach for rapidly generating large, diverse cohorts for discovery and …
[PDF][PDF] Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome-and phenome-wide studies
…, R Zuvich, P Peissig, D Carrell, AH Ramirez… - The American Journal of …, 2011 - cell.com
We repurposed existing genotypes in DNA biobanks across the Electronic Medical Records
and Genomics network to perform a genome-wide association study for primary …
and Genomics network to perform a genome-wide association study for primary …
Building evidence and measuring clinical outcomes for genomic medicine
Human genomic sequencing has potential diagnostic, prognostic, and therapeutic value
across a wide breadth of clinical disciplines. One barrier to widespread adoption is the paucity …
across a wide breadth of clinical disciplines. One barrier to widespread adoption is the paucity …
The effect of novel promoter variants in MATE1 and MATE2 on the pharmacokinetics and pharmacodynamics of metformin
…, RA Castro, L Xu, A Dahlin, AH Ramirez… - Clinical …, 2013 - Wiley Online Library
Interindividual variation in response to metformin, first‐line therapy for type 2 diabetes, is
substantial. Given that transporters are determinants of metformin pharmacokinetics, we …
substantial. Given that transporters are determinants of metformin pharmacokinetics, we …
Optimizing drug outcomes through pharmacogenetics: a case for preemptive genotyping
…, JD Cowan, H Xu, AH Ramirez… - Clinical …, 2012 - Wiley Online Library
Routine integration of genotype data into drug decision making could improve patient safety,
particularly if many relevant genetic variants can be assayed simultaneously before …
particularly if many relevant genetic variants can be assayed simultaneously before …
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
Genetic association studies often examine features independently, potentially missing
subpopulations with multiple phenotypes that share a single cause. We describe an approach that …
subpopulations with multiple phenotypes that share a single cause. We describe an approach that …
Genome-and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk
…, JS Schildcrout, L Bastarache, AH Ramirez… - 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 …
≈2-fold in individuals without cardiac disease. Slow conduction may promote re-entrant …
A Common 5′‐UTR Variant in MATE2‐K Is Associated With Poor Response to Metformin
JH Choi, SW Yee, AH Ramirez… - Clinical …, 2011 - Wiley Online Library
Multidrug and toxin extrusion 2 (MATE2‐K (SLC47A2)), a polyspecific organic cation
exporter, facilitates the renal elimination of the antidiabetes drug metformin. In this study, we …
exporter, facilitates the renal elimination of the antidiabetes drug metformin. In this study, we …