Article
Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
Clinical pharmacology and therapeutics - 1 Feb 2016
Kalman L V, Agúndez Jag, Appell M Lindqvist, Black J L, Bell G C, Boukouvala S, Bruckner C, Bruford E, Caudle K, Coulthard S A, Daly A K, Del Tredici Al, den Dunnen J T, Drozda K, Everts R E, Flockhart D, Freimuth R R, Gaedigk A, Hachad H, Hartshorne T, Ingelman-Sundberg M, Klein T E, Lauschke V M, Maglott D R, McLeod H L, McMillin G A, Meyer U A, Müller D J, Nickerson D A, Oetting W S, Pacanowski M, Pratt V M, Relling M V, Roberts A, Rubinstein W S, Sangkuhl K, Schwab M, Scott S A, Sim S C, Thirumaran R K, Toji L H, Tyndale R F, van Schaik Rhn, Whirl-Carrillo M, Yeo Ktj, Zanger U M
Abstract excerpt
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...
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