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mRNA Vaccine QC with Long-Read Sequencing

From Development to Release: Confidence in Every Molecule

Wasatch BioLabs’ Oxford Nanopore mRNA Vaccine QC service provides complete construct validation in a single assay. Using direct RNA sequencing, we capture full-length mRNA molecules without amplification or reverse transcription, preserving 5′/3′ integrity, poly(A) tail length, and native sequence fidelity. Whether you’re developing novel mRNA constructs or performing lot-release testing, our workflow delivers single-molecule resolution and comprehensive insight across every transcript.

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Translational Next-Generation Pharmacogenomics

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.

Full-Gene Coverage:

Complete haplotypes and CNVs across 49 genes.

Long-read Resolution:

Long-read phasing of repeats and hybrids.

Translational Ready:

Scalable for RUO, GCP, and clinical studies.

Category
Short-Read & SNP Panels
WBL Long-Read PGx Panel

Gene Coverage

Incomplete Gene Coverage, Limited Targets

Full Coverage of 49 Pharmacogenes

Phasing & Haplotype

Statistically Inferred Phasing, Uncertain Diplotypes

Direct Phasing, Accurate Haplotype Resolution

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

Solving PGx Challenges: Phasing, Repeats, and Structural Variants

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.

From Sample to Insight

This streamlined PGx workflow transforms a 2 mL blood draw into high-resolution, full-gene pharmacogenomic data.

1. Sample Preparation

Genomic DNA is extracted from samples and sheared to fragment lengths exceeding 10kb for downstream nanopore long-read sequencing.

2. Target Capture

Hybridization-based enrichment (Twist Bioscience) selectively captures 49 pharmacogenes covering exons, introns, and structural regions.

3. Long-Read Sequencing

Captured targets are sequenced using Oxford Nanopore long-read technology to span entire genes.

4. Variant Calling & Phasing

Reads are aligned to the human reference genome to identify SNPs, CNVs, and structural variants, followed by direct phasing of alleles.

5. Reporting

Comprehensive haplotypes and pharmacogenomic annotations are generated through PharmCat and Chinook pipelines for clinical interpretation.

Coverage & Quality:

Independent benchmarking with reference cell lines (GIAB and Coriell) confirmed high reproducibility, accuracy, and depth of coverage across all 49 genes.

The PGx panel achieved >100× coverage across genes (F1 >0.95).

CYP2D6 Structural Resolution:

Independent benchmarking with reference cell lines (GIAB and Coriell) confirmed high reproducibility, accuracy, and depth of coverage across all 49 genes.

Direct CNV and hybrid calling with Chinook aligned to reference datasets.

Diplotype Concordance:

Independent benchmarking with reference cell lines (GIAB and Coriell) confirmed high reproducibility, accuracy, and depth of coverage across all 49 genes.

PharmCat diplotypes matched truth sets across UGT1A1, DPYD, and CYP2D6.

Seamless Bioinformatics and Reporting

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.

More Than a Service Provider Your Translational Partner

Wasatch BioLabs combines advanced long-read sequencing, hybridization-based target capture, and customizable bioinformatics to accelerate your pharmacogenomic research and clinical validation.

Long-Read Workflows

[Service]

Tailored long-read workflows for variant, methylation, and structural analysis for accurate, scalable, and trial-ready results.

Bioinformatic Expertise

[Service]

Simplify methylation analysis with MethylSeqR, our user-friendly R package that transforms raw nanopore data into actionable insights faster than ever.

Collaborative Approach

[Service]

Work with native-read sequencing experts with decades of experience in genomics, epigenomics, and bioinformatics to guide your project from discovery to clinical success.

Advance Your PGx Studies with Long-Read Resolution

Accelerate discovery and validation with WBL’s long-read pharmacogenomics platform–designed for clarity, coverage, and clinical utility.

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