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

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)...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3969265/
https://ncbi.nlm.nih.gov/pubmed/24270849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nbt.2749
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