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

Introduction #

Results #

Genotype selection and population characteristics #

PheWAS replication of NHGRI Catalog association #

Novel association identified by PheWAS #

Pleiotropy revealed by PheWAS analysis #

Independent replication of PheWAS associations #

Discussion #

Study design #

Genotyping #

Organization of billing codes for PheWAS #

Replication of NHGRI Catalog associations using PheWAS phenotypes #

Phenome-wide analysis to detect novel assocations #

Categorization of PheWAS results #

Replication analysis for actinic keratosis, seborrheric keratosis and nonmelanoma skin cancer #

ROC curve analysis #

Statistical analysis #

Accession code #

dbGaP: Phs000360

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