title: Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.
abstract: OBJECTIVE
  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.
authors: Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, USA.
authors: Logan
authors: L
authors: Dumitrescu
authors: Marylyn D
authors: MD
authors: Ritchie
authors: Kristin
authors: K
authors: Brown-Gentry
authors: Jill M
authors: JM
authors: Pulley
authors: Melissa
authors: M
authors: Basford
authors: Joshua C
authors: JC
authors: Denny
authors: Jorge R
authors: JR
authors: Oksenberg
authors: Dan M
authors: DM
authors: Roden
authors: Jonathan L
authors: JL
authors: Haines
authors: Dana C
authors: DC
authors: Crawford
mesh_terms: D018070:Biological Specimen Banks; D044383:Black People; D030541:Databases, Genetic; D030561:Databases, Nucleic Acid; D057286:Electronic Health Records; D005006:Ethnicity / Q000235:genetics; D056726:Genetic Association Studies; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D016347:Medical Records Systems, Computerized; D015588:Observer Variation; D010641:Phenotype; D044469:Racial Groups / Q000235:genetics; D057566:Self Report; D044465:White People; D001741:Black or African American
chemical_list: D005819:Genetic Markers