ArticlePharmacogenetics and genomics2016
PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation.
Article in Pharmacogenetics and genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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Who cites it
65 citing papers in PubMed.
- Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.Scientific reports · 2025Article
- Analysis of targeted and whole genome sequencing of PacBio HiFi reads for a comprehensive genotyping of gene-proximal and phenotype-associated Variable Number Tandem Repeats.PLoS computational biology · 2025Article
- Genetic Landscape of VIP Pharmacogenomic Variants in the Kinh Vietnamese Population.Pharmacogenomics and personalized medicine · 2025Article
- Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals.Scientific reports · 2024Article
- Pharmacogenomic profiling of the South Korean population: Insights and implications for personalized medicine.Frontiers in pharmacology · 2024Article
- Pharmacogenomic and Statistical Analysis.Methods in molecular biology (Clifton, N.J.) · 2023Article
- The Implementation of Pharmacogenetics in the United Kingdom.Handbook of experimental pharmacology · 2023Article
- An efficient genotyper and star-allele caller for pharmacogenomics.Genome research · 2023Article
- 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
- Pharmacogenomic testing in paediatrics: Clinical implementation strategies.British journal of clinical pharmacology · 2022Review
- Association between CYP metabolizer phenotypes and selective serotonin reuptake inhibitors induced weight gain: a retrospective cohort study.BMC medicine · 2022Article
- Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach.The pharmacogenomics journal · 2022Article
- From pharmacogenetics to pharmaco-omics: Milestones and future directions.HGG advances · 2022Review
- CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project.The Journal of molecular diagnostics : JMD · 2022Article
- Integration of DNA sequencing with population pharmacokinetics to improve the prediction of irinotecan exposure in cancer patients.British journal of cancer · 2022Article
- Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?The Journal of molecular diagnostics : JMD · 2022Article
- ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation.PloS one · 2022Article
- Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review.Frontiers in medicine · 2022Article
- Target-Sequencing of Female Infertility Pathogenic Gene Panel and a Novel TUBB8 Loss-of-Function Mutation.Frontiers in genetics · 2022Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
objectivesAlthough the costs associated with whole-genome and whole-exome next-generation sequencing continue to decline, they remain prohibitively expensive for large-scale studies of genetic variation. As an alternative, custom-target sequencing has become a common methodology on the basis of its favorable balance between cost, throughput, and deep coverage.
methodsWe have developed PGRNseq, a custom-capture panel of 84 genes with associations to pharmacogenetic phenotypes, as a tool to explore the relationship between drug response and genetic variation, both common and rare. We utilized a set of 32 diverse HapMap trios and two clinical cohorts to assess platform performance, accuracy, and ability to discover novel variation.
resultsWe found that PGRNseq generates ultra-deep coverage data (mean=496x) that are over 99.8% concordant with orthogonal datasets. In addition, in our testing sets, PGRNseq identified many novel, rare variants of interest, underscoring its value in both research and clinical settings.
conclusionPGRNseq is an ideal platform for carrying out sequencing-based analyses of pharmacogenetic variation in large cohorts. In addition, the high accuracy associated with genotypes from PGRNseq highlight its utility as a clinical test.
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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.