ArticleThe Journal of molecular diagnostics : JMD2019
Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project.
Article in The Journal of molecular diagnostics : JMD, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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The trial behind it
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Who cites it
52 citing papers in PubMed, 77 citations in OpenAlex.
- Does Next Generation Sequencing (NGS)-Based CYP2D6 Sequencing Improve Genotype-Phenotype Concordance in Tamoxifen-Treated Patients?Clinical pharmacology and therapeutics · 2026Article
- Amplicon-based long-read sequencing for accurate CYP2D6 gene deletion and duplication detection using CYP2D7 as a reference gene.The pharmacogenomics journal · 2026Article
- Primaquine-derived 5,6-orthoquinone concentrations in urine associated with CYP2D6 genotype-predicted phenotype and blood methemoglobin levels.Antimicrobial agents and chemotherapy · 2026Article
- A de novo algorithm for allele reconstruction from Oxford nanopore amplicon reads, with application to CYP2D6.Bioinformatics (Oxford, England) · 2026Article
- Benchmark of Open-Access Star-Allele Callers to Accurately Assess Haplotypes and Phenotypes in Pharmacogenetic Studies.Clinical pharmacology and therapeutics · 2026Article
- A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long-Read Data.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Enhancing CYP2D6 genotyping with nanopore sequencing to address allele diversity P. vivax malaria elimination.Scientific reports · 2025Article
- New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table.The Journal of molecular diagnostics : JMD · 2025Article
- Comparative evaluation of Oxford Nanopore Technologies' adaptive sampling and the Twist long-read PGx panel for pharmacogenomic profiling.Frontiers in pharmacology · 2025Article
- StarTRAC-Frontiers in pharmacology · 2025Article
- Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project.The Journal of molecular diagnostics : JMD · 2024Article
- Reference Materials for Improving Reliability of Multiomics Profiling.Phenomics (Cham, Switzerland) · 2024Review
- Benchmarking pharmacogenomics genotyping tools: Performance analysis on short-read sequencing samples and depth-dependent evaluation.Clinical and translational science · 2024Article
- Star allele search: a pharmacogenetic annotation database and user-friendly search tool of publicly available 1000 Genomes Project biospecimens.BMC genomics · 2024Article
- Distribution of CYP2D6 multiplication, CYP2D6*5, and clinical implications in postoperative patients receiving tramadol analgesia in the Minangkabau ethnic group, Indonesia.F1000Research · 2024Article
- Article
- PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.Clinical pharmacology and therapeutics · 2023Review
- Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank.American journal of human genetics · 2023Article
- Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project.The Journal of molecular diagnostics : JMD · 2023Article
Corrections and comments
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Authors and funding
11 authors at 9 institutions in 1 country.
Funding
Abstract
Pharmacogenetic testing increasingly is available from clinical and research laboratories. However, only a limited number of quality control and other reference materials currently are available for the complex rearrangements and rare variants that occur in the CYP2D6 gene. To address this need, the Division of Laboratory Systems, CDC-based Genetic Testing Reference Material Coordination Program, in collaboration with members of the pharmacogenetic testing and research communities and the Coriell Cell Repositories (Camden, NJ), has characterized 179 DNA samples derived from Coriell cell lines. Testing included the recharacterization of 137 genomic DNAs that were genotyped in previous Genetic Testing Reference Material Coordination Program studies and 42 additional samples that had not been characterized previously. DNA samples were distributed to volunteer testing laboratories for genotyping using a variety of commercially available and laboratory-developed tests. These publicly available samples will support the quality-assurance and quality-control programs of clinical laboratories performing CYP2D6 testing.
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Registered trials
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