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International Journal of Legal Medicine

, Volume 133, Issue 3, pp 807–810 | Cite as

Exploring the 1000 Genomes Project haplotype reporting for the CYP2D6 pharmacogene

  • Frank R. WendtEmail author
  • August E. Woerner
  • Antti Sajantila
  • Rodrigo S. Moura-Neto
  • Bruce Budowle
Letter to the Editor

The Gaedigk et al. article “A perspective by PharmVar: Are the hundreds of CYP2D6 haplotypes predicted by Wendt and colleagues real?” describes shortcomings of the 2017 Wendt et al. article “Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences” [1]. To summarize, they discuss (1) the lack of submission of novel variants to www.PharmVar.org; (2) inaccurate activity score reporting, namely for those haplotypes containing the 843T>G SNP; (3) use of 1000 Genomes Project (1kGP) data from the inaccessible regions of the database; and (4) lack of sequence and structural validation for any of the described haplotypes.

We thank Gaedigk and colleagues for their review of the Wendt et al. 2017 findings and in many ways share their concerns. In general, the authors’ letter raises valid concerns for the data presented in the original Wendt et al. study and many pharmacogenomics studies utilizing publically available data. However, the authors’ appear to overstate our reported...

References

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    Wendt FR, Sajantila A, Moura-Neto RS, Woerner AE, Budowle B (2017) Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences. Int J Legal Med.  https://doi.org/10.1007/s00414-017-1709-0
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    Pharmacogene Variation Consortium (PharmVar) CYP2D6 allele nomenclature. https://www.pharmvar.org/gene/CYP2D6
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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Frank R. Wendt
    • 1
    • 2
    Email author
  • August E. Woerner
    • 1
    • 2
  • Antti Sajantila
    • 3
  • Rodrigo S. Moura-Neto
    • 4
  • Bruce Budowle
    • 1
    • 2
  1. 1.Center for Human IdentificationUniversity of North Texas Health Science CenterFort WorthUSA
  2. 2.Graduate School of Biomedical SciencesUniversity of North Texas Health Science CenterFort WorthUSA
  3. 3.Laboratory of Forensic Biology, Department of Forensic MedicineUniversity of HelsinkiHelsinkiFinland
  4. 4.Instituto de BiologiaUniversidade Federal do Rio de JaneiroRio de JaneiroBrazil

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