Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation

被引：74

作者：

Gaedigk, Andrea ^{[1
,2
]}

Casey, Scott T. ^{[3
]}

Whirl-Carrillo, Michelle ^{[4
]}

Miller, Neil A. ^{[3
]}

Klein, Teri E. ^{[4
,5
]}

机构：

[1] Childrens Mercy Kansas City, Div Clin Pharmacol Toxicol & Therapeut Innovat, Kansas City, MO 64108 USA

[2] Univ Missouri Kansas City, Sch Med, Kansas City, MO 64110 USA

[3] Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO USA

[4] Stanford Univ, Dept Biomed Data Sci, Stanford, CA 94305 USA

[5] Stanford Univ, Stanford Ctr Biomed Informat Res, Stanford, CA 94305 USA

来源：

CLINICAL PHARMACOLOGY & THERAPEUTICS | 2021年 / 110卷 / 03期

关键词：

D O I：

10.1002/cpt.2321

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

The Pharmacogene Variation Consortium (PharmVar) was founded in 2017 to provide the clinical and research communities a repository and standardized nomenclature of genes contributing to variability in drug metabolism and response. Over the past 4 years, PharmVar has provided the research and clinical pharmacogenetics/genomics communities with essential information for flagship pharmacogenes with well-established drug-gene relationships and published clinical guidelines such as CYP2C9, CYP2C19, and CYP2D6. In this Perspective we highlight recent milestones and standardization efforts.

引用

页码：542 / 545

页数：4

共 9 条

[1] PharmVar GeneFocus: CYP2C19
Botton, Mariana R.
Whirl-Carrillo, Michelle
Del Tredici, Andria L.
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Cavallari, Larisa H.
Agundez, Jose A. G.
Duconge, Jorge
Lee, Ming Ta Michael
Woodahl, Erica L.
Claudio-Campos, Karla
Daly, Ann K.
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Pratt, Victoria M.
Scott, Stuart A.
Gaedigk, Andrea
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[2] PharmVar GeneFocus: CYP2B6
Desta, Zeruesenay
El-Boraie, Ahmed
Gong, Li
Somogyi, Andrew A.
Lauschke, Volker M.
Dandara, Collet
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Whirl-Carrillo, Michelle
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[3] European Bioinformatics Institute (EMBL-EBI) and the National Center for Biotechnology Information (NCBI), LOC REF GEN LRG REC
[4] Human Genome Variation Society, SEQ VAR NOM
[5] National Center for Biotechnology Information, NCBI MATCH ANN NCBI
[6] PharmVar GeneFocus: CYP2D6
Nofziger, Charity
Turner, Amy J.
Sangkuhl, Katrin
Whirl-Carrillo, Michelle
Agundez, Jose A. G.
Black, John L.
Dunnenberger, Henry M.
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[7] PharmVar Standards, NTR
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Cavallari, Larisa H.
Agundez, Jose A. G.
Whirl-Carrillo, Michelle
Duconge, Jorge
Del Tredici, Andria L.
Wadelius, Mia
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Scott, Stuart A.
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Pratt, Victoria M.
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[J]. CLINICAL PHARMACOLOGY & THERAPEUTICS, 2021, 110 (03) : 662 - 676
[9] Pharmacogene Variation Consortium Gene Introduction: NUDT15
Yang, Jun J.
Whirl-Carrillo, Michelle
Scott, Stuart A.
Turner, Amy J.
Schwab, Matthias
Tanaka, Yoichi
Suarez-Kurtz, Guilherme
Schaeffeler, Elke
Klein, Ted E.
Miller, Neil A.
Gaedigki, Andrea
[J]. CLINICAL PHARMACOLOGY & THERAPEUTICS, 2019, 105 (05) : 1091 - 1094

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