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Contemporary pharmacogenetic assays in view of the PharmGKB database

(2019) PHARMACOGENOMICS. 20(4). p.261-272
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Organization
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
ADME, pharmacogenetics, pharmacogenomics, PharmGKB, CYP2D6 GENE, CYTOCHROME-P450, KNOWLEDGE, GENOME

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Citation

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

MLA
Tilleman, Laurentijn et al. “Contemporary Pharmacogenetic Assays in View of the PharmGKB Database.” PHARMACOGENOMICS 20.4 (2019): 261–272. Print.
APA
Tilleman, Laurentijn, Weymaere, J., Heindryckx, B., Deforce, D., & Van Nieuwerburgh, F. (2019). Contemporary pharmacogenetic assays in view of the PharmGKB database. PHARMACOGENOMICS, 20(4), 261–272.
Chicago author-date
Tilleman, Laurentijn, Jana Weymaere, Björn Heindryckx, Dieter Deforce, and Filip Van Nieuwerburgh. 2019. “Contemporary Pharmacogenetic Assays in View of the PharmGKB Database.” Pharmacogenomics 20 (4): 261–272.
Chicago author-date (all authors)
Tilleman, Laurentijn, Jana Weymaere, Björn Heindryckx, Dieter Deforce, and Filip Van Nieuwerburgh. 2019. “Contemporary Pharmacogenetic Assays in View of the PharmGKB Database.” Pharmacogenomics 20 (4): 261–272.
Vancouver
1.
Tilleman L, Weymaere J, Heindryckx B, Deforce D, Van Nieuwerburgh F. Contemporary pharmacogenetic assays in view of the PharmGKB database. PHARMACOGENOMICS. 2019;20(4):261–72.
IEEE
[1]
L. Tilleman, J. Weymaere, B. Heindryckx, D. Deforce, and F. Van Nieuwerburgh, “Contemporary pharmacogenetic assays in view of the PharmGKB database,” PHARMACOGENOMICS, vol. 20, no. 4, pp. 261–272, 2019.
@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 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.},
  author       = {Tilleman, Laurentijn and Weymaere, Jana and Heindryckx, Björn and Deforce, Dieter and Van Nieuwerburgh, Filip},
  issn         = {1462-2416},
  journal      = {PHARMACOGENOMICS},
  keywords     = {ADME,pharmacogenetics,pharmacogenomics,PharmGKB,CYP2D6 GENE,CYTOCHROME-P450,KNOWLEDGE,GENOME},
  language     = {eng},
  number       = {4},
  pages        = {261--272},
  title        = {Contemporary pharmacogenetic assays in view of the PharmGKB database},
  url          = {http://dx.doi.org/10.2217/pgs-2018-0167},
  volume       = {20},
  year         = {2019},
}

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