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. PMID: 20733501 [PubMed] PMCID: PMC2952033 NIHMSID: NIHMS226367.
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.