ArticleClinical pharmacology and therapeutics2018
Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase.
Article in Clinical pharmacology and therapeutics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 2 of them syntheses that pooled it.
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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
44 citing papers in PubMed, 2 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- The Clinical Pharmacogenetics Implementation Consortium's consensus-based framework for assigning allele function.American journal of human genetics · 2025Guideline
- DPYD genetic polymorphisms in non-European patients with severe fluoropyrimidine-related toxicity: a systematic review.British journal of cancer · 2024Pooled it
- Dihydropyrimidine Dehydrogenase Genotype-Phenotype Correlations in Plasma and Peripheral Blood Mononuclear Cells.Clinical pharmacology and therapeutics · 2026Article
- The evolving landscape of pharmacogenomics: Current achievements and future directions.Pharmacological reviews · 2026Review
- Potential clinical relevance of rare dihydropyrimidine dehydrogenase genetic variants identified using whole-exome NextGen sequencing in cancer patients with severe fluoropyrimidine toxicity.Cancer chemotherapy and pharmacology · 2025Article
- Personalizing cancer therapy: the role of pharmacogenetics in overcoming drug resistance and toxicity.Molecular biology reports · 2025Review
- Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Comparative evaluation of Oxford Nanopore Technologies' adaptive sampling and the Twist long-read PGx panel for pharmacogenomic profiling.Frontiers in pharmacology · 2025Article
- Lethal 5-Fluorouracil Toxicity in a Carrier ofJCO precision oncology · 2024Article
- Review
- Dihydropyrimidine Dehydrogenase Polymorphism c.2194G>A Screening Is a Useful Tool for Decreasing Gastrointestinal and Hematological Adverse Drug Reaction Risk in Fluoropyrimidine-Treated Patients.Current issues in molecular biology · 2024Article
- Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD.Genome medicine · 2024Article
- APF2: an improved ensemble method for pharmacogenomic variant effect prediction.The pharmacogenomics journal · 2024Article
- Population-specific variations inAntimicrobial agents and chemotherapy · 2024Article
- GermlineeLife · 2024Article
- Overcoming Barriers to Discovery and Implementation of Equitable Pharmacogenomic Testing in Oncology.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2024Review
- GermlinebioRxiv : the preprint server for biology · 2024Article
- Complete DPYD genotyping combined with dihydropyrimidine dehydrogenase phenotyping to prevent fluoropyrimidine toxicity: A retrospective study.Cancer medicine · 2024Article
- Clinical Implementation of Rare and NovelInternational journal of biological sciences · 2024Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Deleterious variants in dihydropyrimidine dehydrogenase (DPD, DPYD gene) can be highly predictive of clinical toxicity to the widely prescribed chemotherapeutic 5-fluorouracil (5-FU). However, there are very limited data pertaining to the functional consequences of the >450 reported no-synonymous DPYD variants. We developed a DPYD-specific variant classifier (DPYD-Varifier) using machine learning and in vitro functional data for 156 missense DPYD variants. The developed model showed 85% accuracy and outperformed other in silico prediction tools. An examination of feature importance within the model provided additional insight into functional aspects of the DPD protein relevant to 5-FU toxicity. In the absence of clinical data for unstudied variants, prediction tools like DPYD-Varifier have great potential to individualize medicine and improve the clinical decision-making process.
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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.