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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting
Centre Disease Control and Prevent, GA USA.
University of Extremadura, Spain.
Linköping University, Department of Medical and Health Sciences, Division of Drug Research. Linköping University, Faculty of Medicine and Health Sciences.ORCID iD: 0000-0002-2809-7591
Mayo Clin, MN USA.
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2016 (English)In: Clinical Pharmacology and Therapeutics, ISSN 0009-9236, E-ISSN 1532-6535, Vol. 99, no 2, 172-185 p.Article in journal (Refereed) PublishedText
Abstract [en]

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.

Place, publisher, year, edition, pages
WILEY-BLACKWELL , 2016. Vol. 99, no 2, 172-185 p.
National Category
Clinical Medicine
URN: urn:nbn:se:liu:diva-125677DOI: 10.1002/cpt.280ISI: 000369533100020PubMedID: 26479518OAI: diva2:908356
Available from: 2016-03-02 Created: 2016-02-29 Last updated: 2016-03-02

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Lindqvist Appell, Malin
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