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Dumitrescu L, Ritchie MD, Brown-Gentry K, Pulley JM, Basford M, Denny JC, Oksenberg JR, Roden DM, Haines JL, Crawford DC. Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genetics in medicine : official journal of the American College of Medical Genetics. 2010 Oct;12(12). 648-50. NIHMSID: NIHMS226367.
Abstract
The Vanderbilt DNA Databank (BioVU) is a biorepository that currently contains >80,000 DNA samples linked to electronic medical records. Although BioVU is a valuable source of samples and phenotypes for genetic association studies, it is unclear whether the administratively assigned race/ethnicity in BioVU can accurately describe and be used as a proxy for genetic ancestry.