title: Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records.
abstract: BACKGROUND
  The ADME Core Panel assays 184 variants across 34 pharmacogenes, many of which are difficult to accurately genotype with standard multiplexing methods.
  
  
  METHODS
  We genotyped 326 frequently medicated individuals of European descent in Vanderbilt's biorepository linked to de-identified electronic medical records, BioVU, on the ADME Core Panel to assess quality and performance of the assay. We compared quality control metrics and determined the extent of direct and indirect marker overlap between the ADME Core Panel and the Illumina Omni1-Quad.
  
  
  RESULTS
  We found the quality of the ADME Core Panel data to be high, with exceptions in select copy number variants and markers in certain genes (notably CYP2D6). Most of the common variants on the ADME panel are genotyped by the Omni1, but absent rare variants and copy number variants could not be accurately tagged by single markers.
  
  
  CONCLUSIONS
  Our frequently medicated study population did not convincingly differ in allele frequency from reference populations, suggesting that heterogeneous clinical samples (with respect to medications) have similar allele frequency distributions in pharmacogenetics genes compared with reference populations.
authors: Center for Human Genetics Research & Department of Molecular Physiology & Biophysics, Vanderbilt University, 2215 Garland Avenue, 519 Light Hall, Nashville, TN 37232-0700, USA.
authors: Matthew T
authors: MT
authors: Oetjens
authors: Joshua C
authors: JC
authors: Denny
authors: Marylyn D
authors: MD
authors: Ritchie
authors: Niloufar B
authors: NB
authors: Gillani
authors: Danielle M
authors: DM
authors: Richardson
authors: Nicole A
authors: NA
authors: Restrepo
authors: Jill M
authors: JM
authors: Pulley
authors: Holli H
authors: HH
authors: Dilks
authors: Melissa A
authors: MA
authors: Basford
authors: Erica
authors: E
authors: Bowton
authors: Dan R
authors: DR
authors: Masys
authors: Russell A
authors: RA
authors: Wilke
authors: Dan M
authors: DM
authors: Roden
authors: Dana C
authors: DC
authors: Crawford
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics; D056915:DNA Copy Number Variations; D057286:Electronic Health Records; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D019338:Polypharmacy; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D019389:Cytochrome P-450 CYP2D6
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