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Contemporary pharmacogenetic assays in view of the PharmGKB database

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Abstract
Aim: Six modern PGx assays were compared with the Pharmacogenomics Knowledge Base (PharmGKB) to determine the proportion of the currently known PGx genotypes that are assessed by these assays. Materials & methods: Investigated assays were ‘Ion AmpliSeq Pharmacogenomics,’ ‘iPLEX PGx Pro,’ ‘DMET Plus,’ ‘PharmcoScan,’ ‘Living DNA’ and ‘23andMe.’ Results: PharmGKB contains 3474 clinical annotations of which 75, 70 and 45% can be determined by PharmacoScan, Living DNA and 23andMe, respectively. The other assays are designed to test a specific subset of PGx variants. Conclusion: Assaying all known PGx variants would only comprise a minor fraction of the current assays’ capacity. Unfortunately, this is not achieved. Moreover, not necessarily the variants with the highest effects or the highest evidence are selected.
Keywords
Molecular Medicine, Genetics, Pharmacology

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Please use this url to cite or link to this publication:

Chicago
Tilleman, Laurentijn, Jana Weymaere, Björn Heindryckx, Dieter Deforce, and Filip Van Nieuwerburgh. 2019. “Contemporary Pharmacogenetic Assays in View of the PharmGKB Database.” Pharmacogenomics.
APA
Tilleman, L., Weymaere, J., Heindryckx, B., Deforce, D., & Van Nieuwerburgh, F. (2019). Contemporary pharmacogenetic assays in view of the PharmGKB database. Pharmacogenomics.
Vancouver
1.
Tilleman L, Weymaere J, Heindryckx B, Deforce D, Van Nieuwerburgh F. Contemporary pharmacogenetic assays in view of the PharmGKB database. Pharmacogenomics. Future Medicine Ltd; 2019;
MLA
Tilleman, Laurentijn et al. “Contemporary Pharmacogenetic Assays in View of the PharmGKB Database.” Pharmacogenomics (2019): n. pag. Print.
@article{8609129,
  abstract     = {Aim: Six modern PGx assays were compared with the Pharmacogenomics Knowledge Base (PharmGKB) to determine the proportion of the currently known PGx genotypes that are assessed by these assays. Materials \& methods: Investigated assays were {\textquoteleft}Ion AmpliSeq Pharmacogenomics,{\textquoteright} {\textquoteleft}iPLEX PGx Pro,{\textquoteright} {\textquoteleft}DMET Plus,{\textquoteright} {\textquoteleft}PharmcoScan,{\textquoteright} {\textquoteleft}Living DNA{\textquoteright} and {\textquoteleft}23andMe.{\textquoteright} Results: PharmGKB contains 3474 clinical annotations of which 75, 70 and 45\% can be determined by PharmacoScan, Living DNA and 23andMe, respectively. The other assays are designed to test a specific subset of PGx variants. Conclusion: Assaying all known PGx variants would only comprise a minor fraction of the current assays{\textquoteright} capacity. Unfortunately, this is not achieved. Moreover, not necessarily the variants with the highest effects or the highest evidence are selected.},
  author       = {Tilleman, Laurentijn and Weymaere, Jana and Heindryckx, Bj{\"o}rn and Deforce, Dieter and Van Nieuwerburgh, Filip},
  issn         = {1462-2416},
  journal      = {Pharmacogenomics},
  publisher    = {Future Medicine Ltd},
  title        = {Contemporary pharmacogenetic assays in view of the PharmGKB database},
  url          = {http://dx.doi.org/10.2217/pgs-2018-0167},
  year         = {2019},
}

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