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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.
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.
Afiliación
  • Kalman LV; Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
  • Agúndez J; Department of Pharmacology, University of Extremadura, Cáceres, Spain.
  • Appell ML; Division of Drug Research, Department of Medical and Health Sciences, Faculty of Medicine and Health Sciences, Linköping University, Linköping, Sweden.
  • Black JL; Mayo Clinic, Rochester, Minnesota, USA.
  • Bell GC; Moffitt Cancer Center, Tampa, Florida, USA.
  • Boukouvala S; Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece.
  • Bruckner C; Affymetrix, Santa Clara, California, USA.
  • Bruford E; HUGO Gene Nomenclature Committee (HGNC), EMBL-EBI, European Molecular Biology Laboratory, Wellcome Genome Campus, Hinxton, UK.
  • Caudle K; St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
  • Coulthard SA; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Daly AK; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Del Tredici A; Millennium Health, LLC, San Diego, California, USA.
  • den Dunnen JT; Department of Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Drozda K; US Food and Drug Administration, Silver Spring, Maryland, USA.
  • Everts RE; Agena Bioscience, San Diego, California, USA.
  • Flockhart D; Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Freimuth RR; Mayo Clinic, Rochester, Minnesota, USA.
  • Gaedigk A; Division of Clinical Pharmacology and Therapeutic Innovation, Children's Mercy Kansas City and School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.
  • Hachad H; Translational Software, Bellevue, Washington, USA.
  • Hartshorne T; Department of Genetic Analysis, Thermo Fisher Scientific, South San Francisco, California, USA.
  • Ingelman-Sundberg M; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
  • Klein TE; Department of Genetics, Stanford University, Stanford, California, USA.
  • Lauschke VM; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
  • Maglott DR; National Institutes of Health / National Library of Medicine / National Center for Biotechnology Information, Bethesda, Maryland, USA.
  • McLeod HL; Moffitt Cancer Center, Tampa, Florida, USA.
  • McMillin GA; University of Utah and ARUP Laboratories, Salt Lake City, Utah, USA.
  • Meyer UA; University of Basel, Basel, Switzerland.
  • Müller DJ; Department of Psychiatry, University of Toronto, CAMH, Toronto, Ontario, Canada.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Oetting WS; Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.
  • Pacanowski M; US Food and Drug Administration, Silver Spring, Maryland, USA.
  • Pratt VM; Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Relling MV; St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
  • Roberts A; Aegis Science Corporation, Nashville, Tennessee, USA.
  • Rubinstein WS; National Institutes of Health / National Library of Medicine / National Center for Biotechnology Information, Bethesda, Maryland, USA.
  • Sangkuhl K; Department of Genetics, Stanford University, Stanford, California, USA.
  • Schwab M; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart and Department of Clinical Pharmacology, University Hospital, Tuebingen, Germany.
  • Scott SA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Sim SC; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
  • Thirumaran RK; Genelex Corporation, Seattle, Washington, USA.
  • Toji LH; Coriell Institute for Medical Research, Camden, New Jersey, USA.
  • Tyndale RF; CAMH and the Departments of Psychiatry and Pharmacology & Toxicology, University of Toronto, Toronto, Ontario, Canada.
  • van Schaik R; Department of Clinical Chemistry, Erasmus MC Rotterdam, International Federation for Clinical Chemistry (IFCC) Task Force Pharmacogenetics, Rotterdam, The Netherlands.
  • Whirl-Carrillo M; Department of Genetics, Stanford University, Stanford, California, USA.
  • Yeo K; Department of Pathology, The University of Chicago, Chicago, Illinois, USA.
  • Zanger UM; Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology, Stuttgart and Department of Clinical Pharmacology, University Hospital, Tuebingen, Germany.
Clin Pharmacol Ther ; 99(2): 172-85, 2016 Feb.
Article en En | MEDLINE | ID: mdl-26479518
ABSTRACT
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Farmacogenética / Pruebas Genéticas / Alelos / Terminología como Asunto Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Clin Pharmacol Ther Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Farmacogenética / Pruebas Genéticas / Alelos / Terminología como Asunto Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Clin Pharmacol Ther Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos