Development of Well Characterized Breast, Lung, and Brain Cancer
Copy Number Variation Reference Materials

Copy number variation (CNV) can be a key driver of oncogenesis. Pathogenic CNVs are often associated with unfavorable prognosis and drug resistance. Therefore, detection and characterization of these types of genetic changes are important for personalized treatment. Well-characterized reference materials for CNVs are not widely available, which makes it difficult to assess accuracy and sensitivity of CNV calls made using next-generation sequencing or other methods.

With cell lines, the CNV content can be variable and may change with passages, the genomic background may not be diploid, and germline and somatic variants may not be well-characterized. Remnant patient samples generally lack characterization and the volumes needed for large validation studies.

Download this poster to see how the digital PCR testing revealed amplifications of each target gene that were within 25% of the expected number of additional copies, demonstrating that the Seraseq CNV reference materials that can be precisely and accurately mixed to distinct amplification levels.

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