BRCA1/BRCA2 genes represent the best examples for our current understanding of the molecular genetics of cancer. Studying germline mutations in BRCA1, BRCA2, and other genes are necessary to identify novel markers associated with an increased risk of disease. While NGS testing is state of the art, many labs still struggle to optimize their NGS workflow to detect all pathogenic variants, including those challenging ones in homopolymer regions, small-to-large insertions, and deletions, as well as copy number variants down to exon level. Standardized and reproducible classification/interpretation of detected variants into pathogenic and benign to be able to compare and combine results from different labs or even different scientists presents another challenge.

In this Clinical OMICs webinar, we will present data from a pre-optimized sample extraction to variant interpretation workflow using the GeneReaderTM NGS System. Additionally, we will show the performance of the system on challenging variants using reference samples, as well as clinical samples. The findings presented in this webinar demonstrate the high level of accuracy for the GeneReader System, eliminating the need to perform time-consuming workflow optimizations.

Interested in learning more?

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Speaker: Julie Deschênes, PhD

Director