ArticleCommunications biology2022
PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus.
Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 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
- Amplicon-based long-read sequencing for accurate CYP2D6 gene deletion and duplication detection using CYP2D7 as a reference gene.The pharmacogenomics journal · 2026Article
- A de novo algorithm for allele reconstruction from Oxford nanopore amplicon reads, with application to CYP2D6.Bioinformatics (Oxford, England) · 2026Article
- A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long-Read Data.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- 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
- Novel CYP2A7/CYP2A6 germline hybrids associated with mutation burden in lung cancer revealed by whole-genome long-read sequencing.Scientific reports · 2025Article
- Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping.Scientific reports · 2025Article
- CCS-Consensuser: A Haplotype-Aware Consensus Generator for PacBio Amplicon Sequences.Molecular ecology resources · 2025Article
- Enhancing CYP2D6 genotyping with nanopore sequencing to address allele diversity P. vivax malaria elimination.Scientific reports · 2025Article
- Sequence Diversity and Encoded Enzymatic Differences of Monocistronic L1 ORF2 mRNA Variants in the Aged Normal and Alzheimer's Disease Brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives.Frontiers in genetics · 2025Review
- Leveraging the power of long reads for targeted sequencing.Genome research · 2024Review
- The impacts of ecological disturbances on the diversity of biosynthetic gene clusters in kauri (Agathis australis) soil.Environmental microbiome · 2024Article
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.Clinical pharmacology and therapeutics · 2023Review
- Case Series of Primaquine-Induced Haemolytic Events in Controlled Trials with G6PD Screening.Pathogens (Basel, Switzerland) · 2023Article
- Article
- Allelic diversity of the pharmacogene CYP2D6 in New Zealand Māori and Pacific peoples.Frontiers in genetics · 2022Article
- Applications of advanced technologies for detecting genomic structural variation.Mutation research. Reviews in mutation researchReview
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12 authors.
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Abstract
The CYP2D6 enzyme is estimated to metabolize 25% of commonly used pharmaceuticals and is of intense pharmacogenetic interest due to the polymorphic nature of the CYP2D6 gene. Accurate allele typing of CYP2D6 has proved challenging due to frequent copy number variants (CNVs) and paralogous pseudogenes. SNP-arrays, qPCR and short-read sequencing have been employed to interrogate CYP2D6, however these technologies are unable to capture longer range information. Long-read sequencing using the PacBio Single Molecule Real Time (SMRT) sequencing platform has yielded promising results for CYP2D6 allele typing. However, previous studies have been limited in scale and have employed nascent data processing pipelines. We present a robust data processing pipeline "PLASTER" for accurate allele typing of SMRT sequenced amplicons. We demonstrate the pipeline by typing CYP2D6 alleles in a large cohort of 377 Solomon Islanders. This pharmacogenetic method will improve drug safety and efficacy through screening prior to drug administration.
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Registered trials
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