Phenotyping: Cohort Discovery Using EHR Data
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Phenotyping is the practice of developing algorithms designed to identify specific phenomic traits within an individual. These algorithms are created using multiple variables enabling researchers to accurately identify traits and perform analyses. Best practice materials and data standardizations tools have been developed to aid with phenotyping protocols and collaboration. Phenotyping also seeks to advance the science of de-identification, transportable phenotyping methods, structure and standards, and portable components of algorithms and methods. Within the eMERGE network, phenotyping focuses both disease related and pharmacogenomic related phenotypes.
- Kho AN, Hayes MG, Rasmussen-Torvik L, Pacheco JA, Thompson WK,…Lowe WL. Use of Diverse Electronic Medical Record Systems to Identify Genetic Risk for Type 2 Diabetes within a Genome-wide Association Study. J Am Med Inform Assoc. 2012 Mar-Apr;19(2):212-8. PMC3277617
- Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R,…Roden DM. Systematic Comparison of Phenome-wide Association Study of Electronic Medical Record Data and Genome-wide Association Study Data. Nat Biotechnol. 2013 Dec;31(12):1102-10. PMC3969265
- Mo H, Thompson WK, Rasmussen LV, Pacheco JA, Jiang G, Kiefer R,…Harris PA. Desiderata for Computable Representations of Electronic Health Records-Driven Phenotype Algorithms. J Am Med Inform Assoc. 2015 Nov;22(6):1220-30. PMC4639716
* Click here to view a listing of eMERGE Studies currently available in dbGaP.