Heatherly R, Denny JC, Haines JL, Roden DM, Malin BA. Size matters: how population size influences genotype-phenotype association studies in anonymized data. Journal of biomedical informatics. 2014 Dec;52(52). 243-50. PMID: 25038554 [PubMed] PMCID: PMC4260994 NIHMSID: NIHMS616937.
Electronic medical records (EMRs) data is increasingly incorporated into genome-phenome association studies. Investigators hope to share data, but there are concerns it may be "re-identified" through the exploitation of various features, such as combinations of standardized clinical codes. Formal anonymization algorithms (e.g., k-anonymization) can prevent such violations, but prior studies suggest that the size of the population available for anonymization may influence the utility of the resulting data. We systematically investigate this issue using a large-scale biorepository and EMR system through which we evaluate the ability of researchers to learn from anonymized data for genome-phenome association studies under various conditions.