ArticlePloS one2022
ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation.
Article in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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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.
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Who cites it
44 citing papers in PubMed, 50 citations in OpenAlex.
- Association of SULT2A1 Locus With Abiraterone Clearance in the Alliance A031201: Randomized Phase III Study of Enzalutamide Compared With Enzalutamide Plus Abiraterone for Metastatic Castration-Resistant Prostate Cancer.Clinical and translational science · 2025Trial
- Multi-Omics-Driven Insights into Cancer Biology and Therapeutic Targeting.AAPS PharmSciTech · 2026Review
- BioFRAM PGx, an Implementation Proposal for Pharmacogenetics in the Spanish National Health System.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Characterization of NAT2 Using Long-Read Sequencing: Allele, Diplotype, and Phenotype Call Accuracy Compared to Other Testing Strategies.Clinical pharmacology and therapeutics · 2026Article
- Benchmark of Open-Access Star-Allele Callers to Accurately Assess Haplotypes and Phenotypes in Pharmacogenetic Studies.Clinical pharmacology and therapeutics · 2026Article
- PharmVar GeneFocus: CYP1A2-Clinical Impact, Genetic Variation, and Updated Nomenclature.Clinical pharmacology and therapeutics · 2026Review
- VN1K is a pangenome-informed multi-omics and phenomics resource for the Vietnamese population.Nature communications · 2026Article
- 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
- Analytical and Clinical Validation of Action PharmaKitDx: A Comprehensive NGS Panel for the Identification of Pharmacogenetic Variants in Diverse Populations.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Computational variant predictors for pharmacogenomics: from evaluation of single alleles to assessment of adverse drug reactions to antidepressants.The pharmacogenomics journal · 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
- Development and Validation of a Multigene Panel for Pharmacogenomics Testing Using Next-Generation Sequencing for Routine Clinical Practice.Clinical and translational science · 2026Article
- Comprehensive whole genome sequencing-based pharmacogenomics profiling using a personalized genome interpretation workflow.Frontiers in pharmacology · 2026Article
- N-acetyltransferase (NAT) 1 and NAT2 enzyme activities drive interindividual variability in sulfamethoxazole N-acetylation.Drug metabolism and disposition: the biological fate of chemicals · 2025Article
- Pharmacogenomic and Clinical Predictors of Deferasirox Response in Transfusion-Dependent Thalassemia Identified Using Whole-Genome Sequencing.Clinical and translational science · 2025Article
- The role of pharmacogenomics and opioid prescribing for infants with surgical congenital heart disease.Pharmacogenetics and genomics · 2025Article
- Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping.Scientific reports · 2025Article
- Population-scale Long-read Sequencing in themedRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The accurate identification of genetic variants contributing to therapeutic drug response or adverse effects is the first step in implementation of precision drug therapy. Targeted sequencing has recently become a common methodology for large-scale studies of genetic variation thanks to its favorable balance between low cost, high throughput, and deep coverage. Here, we present ClinPharmSeq, a targeted sequencing panel of 59 genes with associations to pharmacogenetic (PGx) phenotypes, as a platform to explore the relationship between drug response and genetic variation, both common and rare. For validation, we sequenced DNA from 64 ethnically diverse Coriell samples with ClinPharmSeq to call star alleles (haplotype patterns) in 27 genes using the bioinformatics tool PyPGx. These reference samples were extensively characterized by multiple laboratories using PGx testing assays and, more recently, whole genome sequencing. We found that ClinPharmSeq can consistently generate deep-coverage data (mean = 274x) with high uniformity (30x or above = 94.8%). Our genotype analysis identified a total of 185 unique star alleles from sequencing data, and showed that diplotype calls from ClinPharmSeq are highly concordant with that from previous publications (97.6%) and whole genome sequencing (97.9%). Notably, all 19 star alleles with complex structural variation including gene deletions, duplications, and hybrids were recalled with 100% accuracy. Altogether, these results demonstrate that the ClinPharmSeq platform offers a feasible path for broad implementation of PGx testing and optimization of individual drug treatments.
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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.