ArticlePharmacogenomics2019
Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.
Article in Pharmacogenomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Resolving CYP2D6 Structural Complexity with Long-Read Sequencing: Implications for Tamoxifen Precision Dosing in Thai Breast Cancer Patients.Clinical pharmacology and therapeutics · 2026Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.Clinical pharmacology and therapeutics · 2023Review
- Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio HifiJournal of personalized medicine · 2023Article
- CYP2D6 and CYP2C19 Genes Associated with Tricontinental and Latin American Ancestry of Pe-ruviansDrug metabolism and bioanalysis letters · 2023Article
- The Identification of NovelFrontiers in pharmacology · 2022Article
- Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.The pharmacogenomics journal · 2021Article
- Relationship between CYP2D6 genotype, activity score and phenotype in a pediatric Thai population treated with risperidone.Scientific reports · 2021Article
- Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans.Journal of personalized medicine · 2021Article
- Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.Clinical and translational science · 2021Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6 duplications.
methodsGenotyping of 16 CYP2D6 alleles, multiplex ligation-dependent probe amplification (MLPA) and CYP2D6*36 and duplication allele-specific genotyping were performed on 427 African-American, Asian, Caucasian, Hispanic, and Ashkenazi Jewish individuals.
resultsA novel PCR strategy determined that almost half of all CYP2D6*10 (100C>T) alleles are actually *36 (isolated or in tandem with *10) and all identified duplication alleles were characterized. Integrated results from all testing platforms enabled the refinement of genotype frequencies across all studied populations.
conclusionThe polymorphic CYP2D6 gene requires comprehensive interrogation to characterize allelic variation across ethnicities, which was enabled in this study by integrating multiplexed genotyping, MLPA copy number analysis, novel PCR strategies and duplication allele-specific genotyping.
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Registered trials
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