ArticlePharmacogenetics and genomics2009
CYP2D6: novel genomic structures and alleles.
Article in Pharmacogenetics and genomics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 57 citations in OpenAlex.
- CYP2C19 variation and citalopram response.Pharmacogenetics and genomics · 2011Trial
- Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.Annals of laboratory medicine · 2025Review
- Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives.Frontiers in genetics · 2025Review
- Haplotype phasing of CYP2D6: an allelic ratio method using Agena MassARRAY data.Translational psychiatry · 2024Article
- PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.Clinical pharmacology and therapeutics · 2023Review
- Determination of the DuplicatedJournal of personalized medicine · 2023Article
- An efficient genotyper and star-allele caller for pharmacogenomics.Genome research · 2023Article
- Characterization of NovelJournal of personalized medicine · 2022Article
- PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus.Communications biology · 2022Article
- 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.The Journal of molecular diagnostics : JMD · 2021Review
- Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.The Journal of molecular diagnostics : JMD · 2021Article
- A Review of the Important Role ofGenes · 2020Review
- Sex Differences in Associations Between CYP2D6 Phenotypes and Response to Opioid Analgesics.Pharmacogenomics and personalized medicine · 2020Article
- PharmVar GeneFocus: CYP2D6.Clinical pharmacology and therapeutics · 2020Review
- A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus onNPJ genomic medicine · 2020Article
- Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project.The Journal of molecular diagnostics : JMD · 2019Article
- Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges.Journal of personalized medicine · 2019Review
- Real time PCR detection of common CYP2D6 genetic variants and its application in a Karen population study.Malaria journal · 2018Article
- Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes.Nature communications · 2018Article
- Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.Molecular genetics & genomic medicine · 2017Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
objectiveCYP2D6 is a polymorphic gene. It has been observed to be deleted, to be duplicated and to undergo recombination events involving the CYP2D7 pseudogene and surrounding sequences. The objective of this study was to discover the genomic structure of CYP2D6 recombinants that interfere with clinical genotyping platforms that are available today.
methodsClinical samples containing rare homozygous CYP2D6 alleles, ambiguous readouts, and those with duplication signals and two different alleles were analyzed by long-range PCR amplification of individual genes, PCR fragment analysis, allele-specific primer extension assay, and DNA sequencing to characterize alleles and genomic structure.
resultsNovel alleles, genomic structures, and the DNA sequence of these structures are described. Interestingly, in 49 of 50 DNA samples that had CYP2D6 gene duplications or multiplications where two alleles were detected, the chromosome containing the duplication or multiplication had identical tandem alleles.
conclusionSeveral new CYP2D6 alleles and genomic structures are described which will be useful for CYP2D6 genotyping. The findings suggest that the recombination events responsible for CYP2D6 duplications and multiplications are because of mechanisms other than interchromosomal crossover during meiosis.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.