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1.	Kalman, L. V., et al. (author) Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting 2016 In: Clinical Pharmacology and Therapeutics. - : WILEY-BLACKWELL. - 0009-9236 .- 1532-6535. ; 99:2, s. 172-185 Journal article (peer-reviewed)abstract This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
2.	Rodriguez-Antona, C, et al. (author) PharmVar GeneFocus: CYP3A5 2022 In: Clinical pharmacology and therapeutics. - 1532-6535. Journal article (peer-reviewed)
3.	Rodriguez-Antona, C, et al. (author) PharmVar GeneFocus: CYP3A5 2022 In: Clinical pharmacology and therapeutics. - : Wiley. - 1532-6535 .- 0009-9236. ; 112:6, s. 1159-1171 Journal article (peer-reviewed)
4.	Sangkuhl, Katrin, et al. (author) PharmVar GeneFocus : CYP2C9 2021 In: Clinical Pharmacology and Therapeutics. - : John Wiley & Sons. - 0009-9236 .- 1532-6535. ; 110:3, s. 662-676 Journal article (peer-reviewed)abstract The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C9 gene. Genetic variation within the CYP2C9 gene locus impacts the metabolism or bioactivation of many clinically important drugs, including nonsteroidal anti-inflammatory drugs, phenytoin, antidiabetic agents, and angiotensin receptor blockers. Variable CYP2C9 activity is of particular importance regarding efficacy and safety of warfarin and siponimod as indicated in their package inserts. This GeneFocus provides a comprehensive overview and summary of CYP2C9 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium.

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Type of publication: journal article (4)

Type of content: peer-reviewed (4)

Author/Editor: Gaedigk, A. (3); Whirl-Carrillo, M (3); Lauschke, VM (2); Rodriguez-Antona, C (2); Wang, DX (2); Klein, TE (2); show more...; Wang, D. (1); Ingelman-Sundberg, M (1); Daly, Ann K. (1); Wadelius, Mia (1); McLeod, H L (1); Gaedigk, Andrea (1); Roberts, A. (1); Zanger, U. M. (1); Schwab, M (1); Klein, Teri E (1); Whirl-Carrillo, Mich ... (1); Sangkuhl, Katrin (1); Agundez, Jose A G (1); Scott, Stuart A (1); Cavallari, Larisa H. (1); Lindqvist Appell, Ma ... (1); Scott, S. A. (1); Del Tredici, Andria ... (1); Klein, T. E. (1); Daly, A. K. (1); Lauschke, V. M. (1); Nickerson, D. A. (1); McMillin, G A (1); Bruford, E. (1); Drogemoller, B (1); Kalman, L. V. (1); Agundez, J. A. G. (1); Black, J. L. (1); Bell, G. C. (1); Boukouvala, S. (1); Bruckner, C. (1); Caudle, K. (1); Coulthard, S. A. (1); Del Tredici, A. L. (1); den Dunnen, J. T. (1); Drozda, K. (1); Everts, R. E. (1); Flockhart, D. (1); Freimuth, R. R. (1); Hachad, H. (1); Hartshorne, T. (1); Maglott, D. R. (1); Meyer, U. A. (1); Mueller, D. J. (1); show less...

University: Karolinska Institutet (3); Uppsala University (1); Linköping University (1)

Language: English (4)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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