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

OBJECTIVE: To compare three groupings of Electronic Health Record (EHR) billing codes for their ability to represent clinically meaningful phenotypes and to replicate known genetic associations. The three tested coding systems were the International Classification of Diseases, Ninth Revision, Clinic...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Wei, Wei-Qi, Bastarache, Lisa A., Carroll, Robert J., Marlo, Joy E., Osterman, Travis J., Gamazon, Eric R., Cox, Nancy J., Roden, Dan M., Denny, Joshua C.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5501393/
https://ncbi.nlm.nih.gov/pubmed/28686612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0175508
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