ArticleHuman mutation2016
Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.
Article in Human mutation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04004481 (Metabolites of Tramadol in the Postoperative Surgical Patients Admitted in the ICU), which is not on this map. Cited by 60 papers, 1 of them a synthesis that pooled it.
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.
Metabolites of Tramadol in the Postoperative Surgical Patients Admitted in the ICU
Who cites it
60 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Long-read sequencing of CYP2D6 may improve psychotropic prescribing and treatment outcomes: A systematic review and meta-analysis.Journal of psychopharmacology (Oxford, England) · 2024Pooled it
- A de novo algorithm for allele reconstruction from Oxford nanopore amplicon reads, with application to CYP2D6.Bioinformatics (Oxford, England) · 2026Article
- From fragments to full pictures: how long-read sequencing platforms are revolutionizing oncology research.Molecular biology reports · 2026Review
- A comprehensive assessment of pharmacogenomic annotation tools for next-generation sequencing data: an emphasis on cyp2d6 and vietnamese genomic data.Journal of human genetics · 2026Article
- Population modeling of pharmacokinetic variability of epinastine, a histamine HNaunyn-Schmiedeberg's archives of pharmacology · 2025Article
- Exploring the Pharmacogenetic Landscape: Identification of Clinically Relevant Genotypes by a Nation-Wide Medical Testing Laboratory in Romania.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Longitudinal assessment of DNA recovery from post-mortem whole blood stored in EDTA, sodium fluoride/potassium oxalate and additive-free tubes.International journal of legal medicine · 2025Article
- Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives.Frontiers in genetics · 2025Review
- Review
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study.NPJ Parkinson's disease · 2023Article
- Current status of the analytical validation of next generation sequencing applications for pharmacogenetic profiling.Molecular biology reports · 2023Review
- Implementation of CYP2D6-guided opioid therapy at Cincinnati Children's Hospital Medical Center.American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists · 2023Article
- Determination of the DuplicatedJournal of personalized medicine · 2023Article
- Characterization of CYP2D6 Pharmacogenetic Variation in Sub-Saharan African Populations.Clinical pharmacology and therapeutics · 2023Article
- From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions ofFrontiers in pharmacology · 2023Article
- Challenges Related to the Use of Next-Generation Sequencing for the Optimization of Drug Therapy.Handbook of experimental pharmacology · 2023Article
- How do emerging long-read sequencing technologies function in transforming the plant pathology research landscape?Plant molecular biology · 2022Review
- Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery.Human mutation · 2022Article
- Cas9 targeted nanopore sequencing with enhanced variant calling improves CYP2D6-CYP2D7 hybrid allele genotyping.PLoS genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
The cytochrome P450-2D6 (CYP2D6) enzyme metabolizes ∼25% of common medications, yet homologous pseudogenes and copy number variants (CNVs) make interrogating the polymorphic CYP2D6 gene with short-read sequencing challenging. Therefore, we developed a novel long-read, full gene CYP2D6 single molecule real-time (SMRT) sequencing method using the Pacific Biosciences platform. Long-range PCR and CYP2D6 SMRT sequencing of 10 previously genotyped controls identified expected star (*) alleles, but also enabled suballele resolution, diplotype refinement, and discovery of novel alleles. Coupled with an optimized variant-calling pipeline, CYP2D6 SMRT sequencing was highly reproducible as triplicate intra- and inter-run nonreference genotype results were completely concordant. Importantly, targeted SMRT sequencing of upstream and downstream CYP2D6 gene copies characterized the duplicated allele in 15 control samples with CYP2D6 CNVs. The utility of CYP2D6 SMRT sequencing was further underscored by identifying the diplotypes of 14 samples with discordant or unclear CYP2D6 configurations from previous targeted genotyping, which again included suballele resolution, duplicated allele characterization, and discovery of a novel allele and tandem arrangement. Taken together, long-read CYP2D6 SMRT sequencing is an innovative, reproducible, and validated method for full-gene characterization, duplication allele-specific analysis, and novel allele discovery, which will likely improve CYP2D6 metabolizer phenotype prediction for both research and clinical testing applications.
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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.