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Long-Read Pharmacogenomics
Telomere sequencing
mRNA Vaccine QC
Wasatch BioLabs’ Pharmacogenomics (PGx) service delivers long-read, full-gene sequencing of 49 pharmacogenes, including UGT1A1, DPYD, and CYP2D6. Powered by Oxford Nanopore sequencing and Twist Bioscience target capture technology, our platform reveals complete haplotypes, copy number variants, and hybrid alleles directly from long-read DNA without short-read limitations.
Unlike SNP-based or short-read panels, WBL’s long-read PGx platform captures complete gene structures, preserving the critical genomic context for accurate pharmacogenomic interpretation. From exploratory biopharma studies to fit-for-purpose clinical validation, our service scales with your research needs.
Complete haplotypes and CNVs across 49 genes.
Long-read phasing of repeats and hybrids.
Scalable for RUO, GCP, and clinical studies.
Gene Coverage
Incomplete Gene Coverage, Limited Targets
Full Coverage of 49 Pharmacogenes
Phasing & Haplotype
Statistically Inferred Phasing, Uncertain Diplotypes
Copy Number Variants
Requires a Separate CNV Assay
CNV and Hybrid Allele Detection
Repetitive Regions
Difficult to Assemble Due To Short Fragments
Long Reads Span Entire Repeats
Rare Alleles
Often Misses Underrepresented Variants
Detects Novel and Rare Variants
Assay Integration
Multiple Workflows Required
Unified, Single-assay Workflow
Bioinformatics Interpretation
Fragmented, Manual Analysis
Automated Pipelines With Full Reporting
Clinical Relevance
Ambiguous or Incomplete Data
Decision-grade Insights For PK/PD Models
Drug metabolism-related pharmacogenes like CYP2D6, UGT1A1, and DPYD are rich in repeats and hybrid structures that short reads can’t resolve. WBL’s long-read capture method provides direct visibility into these complex regions, delivering diplotypes, structural context, and cleaner covariates for PK/PD modeling.
This streamlined PGx workflow transforms a 2 mL blood draw into high-resolution, full-gene pharmacogenomic data.
Genomic DNA is extracted from samples and sheared to fragment lengths exceeding 10kb for downstream nanopore long-read sequencing.
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Hybridization-based enrichment (Twist Bioscience) selectively captures 49 pharmacogenes covering exons, introns, and structural regions.
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Captured targets are sequenced using Oxford Nanopore long-read technology to span entire genes.
Reads are aligned to the human reference genome to identify SNPs, CNVs, and structural variants, followed by direct phasing of alleles.
Comprehensive haplotypes and pharmacogenomic annotations are generated through PharmCat and Chinook pipelines for clinical interpretation.
The PGx panel achieved >100× coverage across genes (F1 >0.95).
Direct CNV and hybrid calling with Chinook aligned to reference datasets.
PharmCat diplotypes matched truth sets across UGT1A1, DPYD, and CYP2D6.
All PGx projects include standardized bioinformatics analysis pipelines (wf-pgx, PharmCat, Chinook) and customizable reporting formats compatible with your data systems. Data delivery is handled through WBL’s validated LIMS with secure access for teams and CROs, or via secure transfer methods.
Wasatch BioLabs combines advanced long-read sequencing, hybridization-based target capture, and customizable bioinformatics to accelerate your pharmacogenomic research and clinical validation.
Tailored long-read workflows for variant, methylation, and structural analysis for accurate, scalable, and trial-ready results.
Simplify methylation analysis with MethylSeqR, our user-friendly R package that transforms raw nanopore data into actionable insights faster than ever.
Work with native-read sequencing experts with decades of experience in genomics, epigenomics, and bioinformatics to guide your project from discovery to clinical success.
