1. Cross-laboratory validation of the OncoScan® FFPE Assay, a multiplex tool for whole genome tumour profiling.
- Author
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Foster, Joseph M., Oumie, Assa, Togneri, Fiona S., Vasques, Fabiana Ramos, Hau, Debra, Taylor, Morag, Tinkler-Hundal, Emma, Southward, Katie, Medlow, Paul, McGreeghan-Crosby, Keith, Halfpenny, Iris, McMullan, Dominic J., Quirke, Phil, Keating, Katherine E., Griffiths, Mike, Spink, Karen G., and Brew, Fiona
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NUCLEOTIDE sequence , *EQUIPMENT & supplies - Abstract
Background: Adoption of new technology in both basic research and clinical settings requires rigorous validation of analytical performance. The OncoScan® FFPE Assay is a multiplexing tool that offers genome-wide copy number and loss of heterozygosity detection, as well as identification of frequently tested somatic mutations. Methods: In this study, 162 formalin fixed paraffin embedded samples, representing six different tumour types, were profiled in triplicate across three independent laboratories. OncoScan® formalin fixed paraffin embedded assay data was then analysed for reproducibility of genome-wide copy number, loss of heterozygosity and somatic mutations. Where available, somatic mutation data was compared to data from orthogonal technologies (pyro/sanger sequencing). Results: Cross site comparisons of genome-wide copy number and loss of heterozygosity profiles showed greater than 95% average agreement between sites. Somatic mutations pre-validated by orthogonal technologies showed greater than 90% agreement with OncoScan® somatic mutation calls and somatic mutation concordance between sites averaged 97%. Conclusions: Reproducibility of whole-genome copy number, loss of heterozygosity and somatic mutation data using the OncoScan® assay has been demonstrated with comparatively low DNA inputs from a range of highly degraded formalin fixed paraffin embedded samples. In addition, our data shows examples of clinically-relevant aberrations that demonstrate the potential utility of the OncoScan® assay as a robust clinical tool for guiding tumour therapy. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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