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NGS Reference Materials for Clinical Genomics Assay Validation and Performance Monitoring

Validating complex NGS assays across multiple
variant classes

Modern NGS assays frequently interrogate multiple biomarker classes within a single workflow, requiring laboratories to demonstrate analytical performance across SNVs, INDELs, CNVs, structural variants, RNA fusions and emerging genomic signatures. Obtaining well-characterised patient specimens containing all required alterations is often impractical, making highly multiplexed reference materials critical for robust assay development, analytical validation, verification and performance monitoring programmes.

Establishing analytical sensitivity and limit of detection using defined VAF reference materials

Establishing analytical sensitivity and limits of detection is a critical component of NGS assay validation. Laboratories commonly evaluate multiple VAF levels during a range-finding phase before confirming performance at the proposed LOD using replicate testing.

Clinical Application 

Typical Validation Focus 

Solid tumour testing 

1 to 10% VAF 

Liquid biopsy (ctDNA) 

≤1% VAF 

MRD testing 

Ultra-low-frequency variants 

Comprehensive oncology panels 

Multiple VAF levels 

Reference materials with predefined allele frequencies help laboratories characterise assay sensitivity under clinically relevant testing conditions.

Reference material categories in clinical genomics

Different categories of reference materials support different stages of assay development and validation.

Category 

Definition 

Primary Utility 

Reference Material (RM) 

Material with known properties used for performance assessment 

Validation, verification and monitoring 

Certified Reference Material (CRM) 

Reference material with certified values and traceability 

Calibration and method comparison 

Standard Reference Material (SRM) 

CRM produced by recognised standards organisations 

Benchmarking and standardisation 

Commercial NGS Reference Material 

Engineered material with characterised variants 

LOD studies, accuracy and reproducibility testing 

Commercial NGS reference materials provide a practical approach for comprehensive validation studies and long-term workflow performance assessment.

Supporting oncology, liquid biopsy and
haematological testing

The Seraseq® portfolio includes highly multiplexed DNA, RNA and ctDNA reference materials supporting tumour profiling, liquid biopsy, immuno-oncology, myeloid malignancy testing, RNA fusion detection, tumour mutational burden (TMB), microsatellite instability (MSI), homologous recombination deficiency (HRD), pharmacogenomics, NIPT and germline cancer testing workflows. Materials are available in purified nucleic acid, ctDNA and FFPE formats and are designed to provide broad mutation coverage, defined VAFs and reproducible performance across NGS platforms.

Why highly characterised reference materials matter
in clinical genomics

As sequencing assays become increasingly complex, highly characterised reference materials play an important role in establishing confidence in analytical performance. dPCR-quantified and NGS-validated materials help laboratories assess analytical sensitivity, precision, reproducibility and variant detection accuracy while supporting standardisation across operators, instruments and testing sites. By providing renewable sources of clinically relevant variants, they reduce reliance on limited patient specimens and contribute to robust validation and performance monitoring programmes throughout the NGS assay lifecycle.