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Lookup NU author(s): Dr Sally Coulthard, Professor Ann DalyORCiD
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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.
Author(s): Kalman LV, Agundez JAG, Appell ML, Black JL, Bell GC, Boukouvala S, Bruckner C, Bruford E, Caudle K, Coulthard SA, Daly AK, Del Tredici AL, den Dunnen JT, Drozda K, Everts RE, Flockhart D, Freimuth RR, Gaedigk A, Hachad H, Hartshorne T, Ingelman-Sundberg M, Klein TE, Lauschke VM, Maglott DR, McLeod HL, McMillin GA, Meyer UA, Muller DJ, Nickerson DA, Oetting WS, Pacanowski M, Pratt VM, Relling MV, Roberts A, Rubinstein WS, Sangkuhl K, Schwab M, Scott SA, Sim SC, Thirumaran RK, Toji LH, Tyndale RF, van Schaik RHN, Whirl-Carrillo M, Yeo KTJ, Zanger UM
Publication type: Article
Publication status: Published
Journal: Clinical Pharmacology & Therapeutics
Year: 2016
Volume: 99
Issue: 2
Pages: 172-185
Print publication date: 01/02/2016
Online publication date: 20/11/2015
Acceptance date: 14/10/2015
ISSN (print): 0009-9236
ISSN (electronic): 1532-6535
Publisher: John Wiley & Sons, Inc.
URL: http://dx.doi.org/10.1002/cpt.280
DOI: 10.1002/cpt.280
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