Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network.

Newton KM, Peissig PL, Kho AN, Bielinski SJ, Berg RL, Choudhary V, Basford M, Chute CG, Kullo IJ, Li R, Pacheco JA, Rasmussen LV, Spangler L, Denny JC. Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network. Journal of the American Medical Informatics Association : JAMIA. 2013 Jun;20(20). e147-54. PMID: 23531748 [PubMed] PMCID: PMC3715338

Abstract

Genetic studies require precise phenotype definitions, but electronic medical record (EMR) phenotype data are recorded inconsistently and in a variety of formats.