American Association for Cancer Research (AACR) | Chicago, Illinois 2018
Dana Ruminski Lowe, Jessica Dickens, Catherine Huang, Yves Konigshofer, and Bharathi Anekella
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 (NGS) 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.
Therefore, we have developed and evaluated Seraseq® CNV reference materials for accuracy, precision, and limit-of-detection (LOD) studies for tumor profiling assay development and validation. By providing a highly consistent source of purified DNA with stable CNV content, these reference materials allow for repeatable assessment of assays targeting CNVs.