ArticleClinical pharmacology and therapeutics2019
Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences.
Article in Clinical pharmacology and therapeutics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed.
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- Pharmacogenomic landscape of a Moroccan cohort: enhancing global diversity and addressing the North African gap.Scientific reports · 2026Article
- Integrating Somatic and Germline Pharmacogenomics for Therapeutic Decisions in Precision Oncology.JCO precision oncology · 2026Article
- Analytical Validation of an Annotation Tool for WGS-Based Pharmacogenomics: Preparing for Clinical Implementation in Pediatric Oncology.Clinical and translational science · 2026Article
- Computational variant predictors for pharmacogenomics: from evaluation of single alleles to assessment of adverse drug reactions to antidepressants.The pharmacogenomics journal · 2026Article
- A Framework to Quantify Disparities in Pharmacogenomic Treatment Concordance and Drug Response Outcomes.Clinical and translational science · 2026Article
- Comprehensive pharmacogenomics profiling of the Serbian population.Frontiers in pharmacology · 2025Article
- Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.Frontiers in genetics · 2025Article
- Dynamic star allele definitions in Pharmacogenomics: impact on diplotype calls, Phenotype predictions and statin therapy recommendations.Frontiers in pharmacology · 2025Article
- Pharmacogenetics: Opportunities for theAnnual review of pharmacology and toxicology · 2025Review
- StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data.bioRxiv : the preprint server for biology · 2024Article
- Clinical effects of CYP2D6 phenoconversion in patients with psychosis.Journal of psychopharmacology (Oxford, England) · 2024Article
- UnidentifiedJournal of psychopharmacology (Oxford, England) · 2024Article
- Socio-demographic and genetic risk factors for drug adherence and persistence across 5 common medication classes.Nature communications · 2024Article
- Thai pharmacogenomics database -2 (TPGxD-2) sequel to TPGxD-1, analyzing genetic variants in 26 non-VIPGx genes within the Thai population.Clinical and translational science · 2024Article
- Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.Scientific reports · 2024Article
- Prevalence of actionable pharmacogenetic variants and high-risk drug prescriptions: A Swiss hospital-based cohort study.Clinical and translational science · 2024Article
- Voriconazole metabolism is associated with the number of skin cancers per patient.Archives of dermatological research · 2024Article
- Voriconazole Metabolism is Associated with the Number of Skin Cancers Per Patient.Research square · 2024Article
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4 authors.
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Abstract
Variation in the enzymatic activity of pharmacogenes is defined by star alleles (haplotypes) comprised of single-nucleotide variants, small insertion-deletions, and large structural variants. We recently developed Stargazer, a next-generation sequencing-based tool to call star alleles for the clinically important CYP2D6 gene. Here, we present the utility of extending Stargazer to call star alleles for 28 pharmacogenes using whole genome sequencing (WGS) data. We applied Stargazer to WGS data from 70 ethnically diverse samples from the Genetic Testing Reference Materials Coordination Program (GeT-RM). These reference samples were extensively characterized by GeT-RM using multiple pharmacogenetic testing assays. In all 28 genes, Stargazer recalled 100% of star alleles (N = 92) present in GeT-RM's consensus genotypes (N = 1,559). Stargazer also detected star alleles not previously reported by GeT-RM, including complex structural variants. Our results demonstrate that combining WGS data and Stargazer enables automated, accurate, and comprehensive genotyping of pharmacogenes in the human genome.
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