ArticleThe pharmacogenomics journal2021
Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.
Article in The pharmacogenomics journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 64 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
64 citing papers in PubMed.
- Cytochrome P450 2D6 Metabolizer Phenotype Is Associated With Metoprolol Pharmacodynamics But Not With Metoprolol Discontinuation: A Retrospective Cohort Study in the All of Us Research Program.Journal of clinical medicine research · 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
- Genome Sequencing Enhances Precision and Clinical Utility of Pharmacogenetic Data Compared to Arrays.Journal of clinical pharmacology · 2026Article
- Population-scale genomic medicine with the Hong Kong Genome Project.Nature medicine · 2026Article
- Analytical Validation of an Annotation Tool for WGS-Based Pharmacogenomics: Preparing for Clinical Implementation in Pediatric Oncology.Clinical and translational science · 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
- 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
- Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6.NPJ genomic medicine · 2026Article
- Japanese genomes for pharmacogenomics: primary and secondary pipelines for population-specific insights.Frontiers in bioinformatics · 2026Article
- Novel CYP2A7/CYP2A6 germline hybrids associated with mutation burden in lung cancer revealed by whole-genome long-read sequencing.Scientific reports · 2025Article
- Population-scale Long-read Sequencing in themedRxiv : the preprint server for health sciences · 2025Article
- A Complete Picture of theInternational journal of molecular sciences · 2025Article
- Expanding biobank pharmacogenomics through machine learning calls of structural variation.Genetics · 2025Article
- CYP2D6 Phenotypes and Emergency Department Visits Among Patients Receiving Opioid Treatment.JAMA network open · 2025Article
- Comprehensive genome analysis and variant detection at scale using DRAGEN.Nature biotechnology · 2025Article
- Frequency and Implications of High-Risk Pharmacogenomic Phenotypes Identified in a Diverse Australian Pediatric Oncology Cohort.Clinical and translational science · 2025Article
- Genome-wide association testing beyond SNPs.Nature reviews. Genetics · 2025Review
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
4 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Responsible for the metabolism of ~21% of clinically used drugs, CYP2D6 is a critical component of personalized medicine initiatives. Genotyping CYP2D6 is challenging due to sequence similarity with its pseudogene paralog CYP2D7 and a high number and variety of common structural variants (SVs). Here we describe a novel bioinformatics method, Cyrius, that accurately genotypes CYP2D6 using whole-genome sequencing (WGS) data. We show that Cyrius has superior performance (96.5% concordance with truth genotypes) compared to existing methods (84-86.8%). After implementing the improvements identified from the comparison against the truth data, Cyrius's accuracy has since been improved to 99.3%. Using Cyrius, we built a haplotype frequency database from 2504 ethnically diverse samples and estimate that SV-containing star alleles are more frequent than previously reported. Cyrius will be an important tool to incorporate pharmacogenomics in WGS-based precision medicine initiatives.
Indexed as
Identifiers
What OpenQuestion holds
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.