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Wiley, Clinical Pharmacology & Therapeutics, 2(99), p. 172-185, 2015

DOI: 10.1002/cpt.280

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Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting

Journal article published in 2015 by Johan T. den Dunnen, Ron H. N. van Schaik, Teri E. Klein, Volker M. Lauschke, Donna R. Maglott, Howard L. McLeod, Al Del Tredici, Gwendolyn A. McMillin, Urs A. Meyer, Daniel J. Müller, Deborah A. Nickerson, William S. Oetting, Victoria M. Pratt, Malin Lindqvist Appell, Mary V. Relling and other authors.
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Abstract

This manuscript 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. This article is protected by copyright. All rights reserved.