Dataset Information

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.

ABSTRACT: PURPOSE: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. METHODS:We genotyped 360 single nucleotide polymorphisms on the Illumina DNA Test Panel containing ancestry informative markers in 1910 BioVU samples with observer-reported ancestry and 384 samples from the Multiple Sclerosis Genetics Group with self-reported ancestry. Genetic ancestry was inferred for all individuals using Structure 2.2. RESULTS:More than 98% of observer-reported European Americans were genetically inferred to have at least 60% European ancestry. Ninety-three percent of observer-reported African Americans were genetically inferred to be predominantly of African ancestry. We determined that the concordance of observer-reported race/ethnicity and inferred genetic ancestry was not significantly different from that of self-reported race/ethnicity in either population (P = 0.09 and 0.94 in European Americans and African Americans, respectively). CONCLUSIONS:Observer-reported race/ethnicity for European Americans and African Americans approximates genetic ancestry as well as self-reported race/ethnicity, making biorepositories linked to electronic medical records such as BioVU a viable source of DNA samples for future large-scale genetic association studies.

SUBMITTER: Dumitrescu L

PROVIDER: S-EPMC2952033 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature

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Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.

Dumitrescu Logan L Ritchie Marylyn D MD Brown-Gentry Kristin K Pulley Jill M JM Basford Melissa M Denny Joshua C JC Oksenberg Jorge R JR Roden Dan M DM Haines Jonathan L JL Crawford Dana C DC

Genetics in medicine : official journal of the American College of Medical Genetics 20101001 10

<h4>Purpose</h4>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.<h4>Methods</h4>We genotyped 360 single nucleotide polymorphisms on the Illumina DNA Test Panel containing a ...[more]

PMID: 20733501

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Dataset Information

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.

Publications

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.

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