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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
Author(s) -
Kalman LV,
Agúndez JAG,
Appell M Lindqvist,
Black JL,
Bell GC,
Boukouvala S,
Bruckner C,
Bruford E,
Caudle K,
Coulthard SA,
Daly AK,
Tredici AL Del,
den Dunnen JT,
Drozda K,
Everts RE,
Flockhart D,
Freimuth RR,
Gaedigk A,
Hachad H,
Hartshorne T,
IngelmanSundberg M,
Klein TE,
Lauschke VM,
Maglott DR,
McLeod HL,
McMillin GA,
Meyer UA,
Müller 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,
WhirlCarrillo M,
Yeo KTJ,
Zanger UM
Publication year - 2016
Publication title -
clinical pharmacology and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.941
H-Index - 188
eISSN - 1532-6535
pISSN - 0009-9236
DOI - 10.1002/cpt.280
Subject(s) - workgroup , standardization , confusion , pharmacogenetics , nomenclature , chemical nomenclature , transparency (behavior) , computer science , computational biology , medicine , biology , genetics , psychology , gene , taxonomy (biology) , genotype , computer network , chemistry , botany , computer security , organic chemistry , psychoanalysis , operating system
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.