ArticleThe Journal of molecular diagnostics : JMD2022
Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project.
Article in The Journal of molecular diagnostics : JMD, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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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
12 citing papers in PubMed.
- Benchmark of Open-Access Star-Allele Callers to Accurately Assess Haplotypes and Phenotypes in Pharmacogenetic Studies.Clinical pharmacology and therapeutics · 2026Article
- New iPSC resource with long-read whole genome sequencing characterizations for enhanced in vitro modeling.bioRxiv : the preprint server for biology · 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
- Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project.The Journal of molecular diagnostics : JMD · 2024Article
- Benchmarking pharmacogenomics genotyping tools: Performance analysis on short-read sequencing samples and depth-dependent evaluation.Clinical and translational science · 2024Article
- Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.Nucleic acids research · 2024Article
- Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip.Frontiers in pharmacology · 2024Article
- The Genetic Testing Reference Materials Coordination Program: Over 10 Years of Support for Pharmacogenomic Testing.The Journal of molecular diagnostics : JMD · 2023Article
- Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project.The Journal of molecular diagnostics : JMD · 2023Article
- Pharmacogenetics of 6-mercaptopurine in a black Zimbabwean cohort treated for acute lymphoblastic leukaemia.Pharmacogenomics · 2023Article
- PAnno: A pharmacogenomics annotation tool for clinical genomic testing.Frontiers in pharmacology · 2023Article
- TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase.The Journal of molecular diagnostics : JMD · 2022Review
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Authors and funding
15 authors.
Funding
Abstract
Pharmacogenetic testing is increasingly provided by clinical and research laboratories; however, only a limited number of quality control and reference materials are currently available for many of the TPMT and NUDT15 variants included in clinical tests. To address this need, the Division of Laboratory Systems, Centers for Disease Control and Prevention-based Genetic Testing Reference Material (GeT-RM) coordination program, in collaboration with members of the pharmacogenetic testing and research communities and the Coriell Institute for Medical Research, has characterized 19 DNA samples derived from Coriell cell lines. DNA samples were distributed to four volunteer testing laboratories for genotyping using a variety of commercially available and laboratory developed tests and/or Sanger sequencing. Of the 12 samples characterized for TPMT, newly identified variants include TPMT∗2, ∗6, ∗12, ∗16, ∗21, ∗24, ∗32, ∗33, and ∗40; for the 7 NUDT15 reference material samples, newly identified variants are NUDT15∗2, ∗3, ∗4, ∗5, ∗6, and ∗9. In addition, a novel haplotype, TPMT∗46, was identified in this study. Preexisting data on an additional 11 Coriell samples, as well as some supplemental testing, were used to create comprehensive reference material panels for TPMT and NUDT15. These publicly available and well-characterized materials can be used to support the quality assurance and quality control programs of clinical laboratories performing clinical pharmacogenetic testing.
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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.