Literature DB >> 30020016

Accurately genotyping CYP2D6: not for the faint of heart.

Charity Nofziger1, Markus Paulmichl2,3.   

Abstract

Entities:  

Keywords:  CYP2D7; allele drop out; personalized medicine; pharmacogenetics; sequencing

Mesh：

Substances：

Year:  2018        PMID： 30020016     DOI： 10.2217/pgs-2018-0105

Source DB:  PubMed          Journal:  Pharmacogenomics        ISSN： 1462-2416            Impact factor:   2.533


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  12 in total

1.  Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.

Authors:  Wanqiong Qiao; Suparna Martis; Geetu Mendiratta; Lisong Shi; Mariana R Botton; Yao Yang; Andrea Gaedigk; Raymon Vijzelaar; Lisa Edelmann; Ruth Kornreich; Robert J Desnick; Stuart A Scott
Journal:  Pharmacogenomics       Date:  2018-12-06       Impact factor: 2.533

2.  Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population.

Authors:  Koya Fukunaga; Eiji Hishinuma; Masahiro Hiratsuka; Ken Kato; Takuji Okusaka; Takeo Saito; Masashi Ikeda; Teruhiko Yoshida; Hitoshi Zembutsu; Nakao Iwata; Taisei Mushiroda
Journal:  J Hum Genet       Date:  2020-08-05       Impact factor: 3.172

3.  Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.

Authors:  Amy J Turner; Praful Aggarwal; Erin C Boone; Cyrine-Eliana Haidar; Mary V Relling; Ashley D Derezinski; Ulrich Broeckel; Andrea Gaedigk
Journal:  J Mol Diagn       Date:  2021-02-22       Impact factor: 5.568

Review 4.  Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy.

Authors:  Victoria M Pratt; Larisa H Cavallari; Andria L Del Tredici; Andrea Gaedigk; Houda Hachad; Yuan Ji; Lisa V Kalman; Reynold C Ly; Ann M Moyer; Stuart A Scott; R H N van Schaik; Michelle Whirl-Carrillo; Karen E Weck
Journal:  J Mol Diagn       Date:  2021-06-10       Impact factor: 5.341

5.  Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes.

Authors:  Yaowaluck Hongkaew; Wendy Y Wang; Roger Gaedigk; Chonlaphat Sukasem; Andrea Gaedigk
Journal:  Pharmacogenomics       Date:  2021-05-17       Impact factor: 2.638

Review 6.  The Evolution of PharmVar.

Authors:  Andrea Gaedigk; Katrin Sangkuhl; Michelle Whirl-Carrillo; Greyson P Twist; Teri E Klein; Neil A Miller
Journal:  Clin Pharmacol Ther       Date:  2018-12-07       Impact factor: 6.875

7.  The 9th Santorini Conference: Systems Medicine, Personalised Health and Therapy. "The Odyssey from Hope to Practice", Santorini, Greece, 30 September⁻3 October 2018.

Authors:  Sophie Visvikis-Siest; Vesna Gorenjak; Maria G Stathopoulou; Alexandros M Petrelis; Georges Weryha; Christine Masson; Brigitte Hiegel; Satish Kumar; Robert Barouki; Eric Boerwinkle; Georges Dagher; Panagiotis Deloukas; Federico Innocenti; John Lamont; Michael Marschler; Heiko Meyer; Urs A Meyer; Charity Nofziger; Markus Paulmichl; Cora Vacher; Lynn Webster
Journal:  J Pers Med       Date:  2018-12-12

8.  Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6-Mediated Metabolic Activity.

Authors:  Rachel Dalton; Seung-Been Lee; Katrina G Claw; Bhagwat Prasad; Brian R Phillips; Danny D Shen; Lai Hong Wong; Mitch Fade; Matthew G McDonald; Maitreya J Dunham; Douglas M Fowler; Allan E Rettie; Erin Schuetz; Timothy A Thornton; Deborah A Nickerson; Andrea Gaedigk; Kenneth E Thummel; Erica L Woodahl
Journal:  Clin Transl Sci       Date:  2019-10-25       Impact factor: 4.689

9.  Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.

Authors:  Xiao Chen; Fei Shen; Nina Gonzaludo; Alka Malhotra; Cande Rogert; Ryan J Taft; David R Bentley; Michael A Eberle
Journal:  Pharmacogenomics J       Date:  2021-01-18       Impact factor: 3.245

10.  A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping.

Authors:  David Twesigomwe; Galen E B Wright; Britt I Drögemöller; Jorge da Rocha; Zané Lombard; Scott Hazelhurst
Journal:  NPJ Genom Med       Date:  2020-08-03       Impact factor: 8.617
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