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Relling, MV

Mayo Clinic

St. Jude Children's Research Hospital

Citations 1

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

Clinical Pharmacology & Therapeutics | October 20, 2015 | Volume: 99 | Issue: 2 | Pages: 172-185

10.1002/cpt.280 Get It

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.