ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- African Genetic Diversity: Implications for Cytochrome P450-mediated Drug Metabolism and Drug Development.EBioMedicine · 2017Pooled it
- Genome Sequencing Enhances Precision and Clinical Utility of Pharmacogenetic Data Compared to Arrays.Journal of clinical pharmacology · 2026Article
- Comprehensive pharmacogenomics profiling of the Serbian population.Frontiers in pharmacology · 2025Article
- PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.Clinical pharmacology and therapeutics · 2023Review
- Current status of the analytical validation of next generation sequencing applications for pharmacogenetic profiling.Molecular biology reports · 2023Review
- Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data.The pharmacogenomics journal · 2022Article
- Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?The Journal of molecular diagnostics : JMD · 2022Article
- Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.NPJ genomic medicine · 2022Article
- The Landscape of Clinical Implementation of Pharmacogenetic Testing in Central China: A Single-Center Study.Pharmacogenomics and personalized medicine · 2021Article
- Technologies for Pharmacogenomics: A Review.Genes · 2020Review
- Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450.Journal of personalized medicine · 2020Review
- Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine.Science China. Life sciences · 2019Review
- Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.Pharmacogenomics · 2019Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
purposeThe aim of the study was to assess exome data for preemptive pharmacogenetic screening for 203 clinically relevant pharmacogenetic variant positions from the Pharmacogenomics Knowledgebase and Clinical Pharmacogenetics Implementation Consortium and identify copy-number variants (CNVs) in CYP2D6.
methodsWe examined the coverage and genotype quality of 203 pharmacogenetic variant positions in 973 exomes compared with five genomes and with five genotyping chip data sets. Then, we determined the agreement of exome and chip genotypes by evaluating concordance in a three-way comparison of exome, genome, and chip-based genotyping at 1,929 variant positions in five individuals. Finally, we evaluated the utility of exomes for detecting CYP2D6 CNVs.
resultsFor 5 individuals examined for 203 pharmacogenetic variants (5 × 203 = 1,015), 998/1,015 were identified by genome, 849/1,015 were identified by exome, and 295/1,015 by genotyping chip. Thirty-six pharmacogenetic star allele variants with moderate to strong Clinical Pharmacogenetics Implementation Consortium (CPIC) therapeutic recommendations were identified in 973 exomes. Exomes had high (98%) genotype concordance with chip-based genotyping. CYP2D6 CNVs were identified in 57/973 exomes.
conclusionsExomes outperformed the current chip-based assay in detecting more important pharmacogenetic variant positions and CYP2D6 CNVs for preemptive pharmacogenetic screening. Tools should be developed to derive pharmacogenetic variants from exomes.Genet Med 19 3, 357-361.
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