Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

ICD-10-CM Crosswalks in the primary care setting: assessing reliability of the GEMs and reimbursement mappings

(2015) Robert W. Turer et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Opportunities for drug repositioning from phenome-wide association studies

(2015) Majid Rastegar-Mojarad et al.   NATURE BIOTECHNOLOGY

A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough

(2015) J D Mosley et al.   PHARMACOGENOMICS JOURNAL

GTEx detects genetic effects

(2015) G. Gibson   SCIENCE

Extracting research-quality phenotypes from electronic health records to support precision medicine

(2015) Wei-Qi Wei et al.   Genome Medicine

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

(2014) Robert J. Carroll et al.   BIOINFORMATICS

Biobanks and Electronic Medical Records: Enabling Cost-Effective Research

(2014) E. Bowton et al.   Science Translational Medicine

Detection of Pleiotropy through a Phenome-Wide Association Study (PheWAS) of Epidemiologic Data as Part of the Environmental Architecture for Genes Linked to Environment (EAGLE) Study

(2014) Molly A. Hall et al.   PLoS Genetics

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis

(2014) Bahram Namjou et al.   Frontiers in Genetics

Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C19 Genotype and Clopidogrel Therapy: 2013 Update

(2013) S A Scott et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

A PheWAS approach in studying HLA-DRB1*1501

(2013) S J Hebbring et al.   GENES AND IMMUNITY

The Electronic Medical Records and Genomics (eMERGE) Network: past, present and future

(2013) Omri Gottesman et al.   GENETICS IN MEDICINE

Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network

(2013) K. M. Newton et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Caveats for the Use of Operational Electronic Health Record Data in Comparative Effectiveness Research

(2013) William R. Hersh et al.   MEDICAL CARE

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

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Comorbidity Clusters in Autism Spectrum Disorders: An Electronic Health Record Time-Series Analysis

(2013) Finale Doshi-Velez et al.   PEDIATRICS

Phenome-Wide Association Studies on a Quantitative Trait: Application to TPMT Enzyme Activity and Thiopurine Therapy in Pharmacogenomics

(2013) Antoine Neuraz et al.   PLoS Computational Biology

Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network

(2013) Sarah A. Pendergrass et al.   PLoS Genetics

Electronic Medical Records as a Tool in Clinical Pharmacology: Opportunities and Challenges

(2012) D M Roden et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

The absence of longitudinal data limits the accuracy of high-throughput clinical phenotyping for identifying type 2 diabetes mellitus subjects

(2012) Wei-Qi Wei et al.   INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS

Chapter 13: Mining Electronic Health Records in the Genomics Era

(2012) Joshua C. Denny   PLoS Computational Biology

Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies

(2011) Joshua C. Denny et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Emerging Role of Electronic Medical Records in Pharmacogenomics

(2011) R A Wilke et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study

(2011) Abel N Kho et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Using electronic health records to drive discovery in disease genomics

(2011) Isaac S. Kohane   NATURE REVIEWS GENETICS

Disease Ontology: a backbone for disease semantic integration

(2011) L. M. Schriml et al.   NUCLEIC ACIDS RESEARCH

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

(2010) Marylyn D. Ritchie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Multiple Pigmentation Gene Polymorphisms Account for a Substantial Proportion of Risk of Cutaneous Malignant Melanoma

(2009) David L. Duffy et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine

(2008) DM Roden et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

(2008) Jiali Han et al.   PLoS Genetics