ArticleClinical pharmacology and therapeutics2016
Comparison of genome sequencing and clinical genotyping for pharmacogenes.
Article in Clinical pharmacology and therapeutics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
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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.
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Who cites it
25 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
- Analytical Validation of an Annotation Tool for WGS-Based Pharmacogenomics: Preparing for Clinical Implementation in Pediatric Oncology.Clinical and translational science · 2026Article
- Development and Validation of a Multigene Panel for Pharmacogenomics Testing Using Next-Generation Sequencing for Routine Clinical Practice.Clinical and translational science · 2026Article
- Pharmacogenomics-Based Detection of Variants Involved in Pain, Anti-inflammatory and Immunomodulating Agents Pathways by Whole Exome Sequencing and DeepIranian journal of medical sciences · 2025Article
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Comparing the clinical utility of pharmacogenomic genotyping and next generation sequencing in a military health system adult medicine clinic.Pharmacogenomics · 2024Article
- Current status of the analytical validation of next generation sequencing applications for pharmacogenetic profiling.Molecular biology reports · 2023Review
- Comparison of variants in TPMT and NUDT15 between sequencing and genotyping methods in a multistate pediatric institution.Clinical and translational science · 2023Article
- Advancing Pharmacogenomics from Single-Gene to Preemptive Testing.Annual review of genomics and human genetics · 2022Review
- Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.NPJ genomic medicine · 2022Article
- Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization.The Journal of molecular diagnostics : JMD · 2021Article
- Technologies for Pharmacogenomics: A Review.Genes · 2020Review
- Repurposing of Diagnostic Whole Exome Sequencing Data of 1,583 Individuals for Clinical Pharmacogenetics.Clinical pharmacology and therapeutics · 2020Article
- Sequencing XMET genes to promote genotype-guided risk assessment and precision medicine.Science China. Life sciences · 2019Review
- Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Article
- The Role of Next-Generation Sequencing in Pharmacogenetics and Pharmacogenomics.Cold Spring Harbor perspectives in medicine · 2019Review
- Standardization can accelerate the adoption of pharmacogenomics: current status and the path forward.Pharmacogenomics · 2018Review
- Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.Clinical and translational science · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
Abstract
We compared whole exome sequencing (WES, n = 176 patients) and whole genome sequencing (WGS, n = 68) and clinical genotyping (DMET array-based approach) for interrogating 13 genes with Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. We focused on 127 CPIC important variants: 103 single nucleotide variations (SNV), 21 insertion/deletions (Indel), HLA-B alleles, and two CYP2D6 structural variations. WES and WGS provided interrogation of nonoverlapping sets of 115 SNV/Indels with call rate >98%. Among 68 loci interrogated by both WES and DMET, 64 loci (94.1%, confidence interval [CI]: 85.6-98.4%) showed no discrepant genotyping calls. Among 66 loci interrogated by both WGS and DMET, 63 loci (95.5%, CI: 87.2-99.0%) showed no discrepant genotyping calls. In conclusion, even without optimization to interrogate pharmacogenetic variants, WES and WGS displayed potential to provide reliable interrogation of most pharmacogenes and further validation of genome sequencing in a clinical lab setting is warranted.
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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.