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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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Bibliographic Details
Published in: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.
Format: Artigo
Language:Inglês
Published: Public Library of Science 2017
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Online Access: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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