Article
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Nature biotechnology - 1 Dec 2013
Denny Joshua C, Bastarache Lisa, Ritchie Marylyn D, Carroll Robert J, Zink Raquel, Mosley Jonathan D, Field Julie R, Pulley Jill M, Ramirez Andrea H, Bowton Erica, Basford Melissa A, Carrell David S, Peissig Peggy L, Kho Abel N, Pacheco Jennifer A, Rasmussen Luke V, Crosslin David R, Crane Paul K, Pathak Jyotishman, Bielinski Suzette J, Pendergrass Sarah A, Xu Hua, Hindorff Lucia A, Li Rongling, Manolio Teri A, Chute Christopher G, Chisholm Rex L, Larson Eric B, Jarvik Gail P, Brilliant Murray H, McCarty Catherine A, Kullo Iftikhar J, Haines Jonathan L, Crawford Dana C, Masys Daniel R, Roden Dan M
Abstract excerpt
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 replicate the results. Here we report the first large-scale application of the phenome-wide association study (PheWAS) paradigm within electronic medical records (EMRs), an unbiased approach to replication and discovery that...
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