Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
Clinical Pharmacology & Therapeutics2015Vol. 99(2), pp. 172–185
Citations Over TimeTop 1% of 2015 papers
LV Kalman, José A. G. Agúndez, Malin Lindqvist Appell, J.H. Black, GC Bell, Sotiria Boukouvala, Carsten Bruckner, Elspeth A. Bruford, KE Caudle, SA Coulthard, Ann K. Daly, AL Del Tredici, Johan T. den Dunnen, Katarzyna Drozda, Robin E. Everts, David A. Flockhart, Robert R. Freimuth, Andrea Gaedigk, Houda Hachad, Toinette Hartshorne, Magnus Ingelman‐Sundberg, Teri E. Klein, Volker M. Lauschke, DR Maglott, HL McLeod, GA McMillin, Meyer Ua, Müller Dj, D. A. Nickerson, WS Oetting, MA Pacanowski, Pratt Vm, MV Relling, Angharad M. Roberts, Rubinstein Ws, Katrin Sangkuhl, Matthias Schwab, Stuart A. Scott, SC Sim, RK Thirumaran, LH Toji, Rachel F. Tyndale, RHN van Schaik, Michelle Whirl‐Carrillo, K. L. B. Yeo, UM Zanger
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.
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