Clinical and Translational

Cancer Gene Variant Detection Using a Pre-Optimized Sample to Report Workflow

41 views
October 31, 2019

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?

Click here


Speaker: Julie Deschênes, PhD

Director

Global Product Management for Hereditary Cancer, QIAGEN

Related videos

Clinical and Translational

Managing Multiple Biomarker Therapeutic Development

132 views September 12, 2019

For the past two decades, the paradigm in the field has been “one biomarker,...

Clinical and Translational

Rapid and comprehensive NGS variant interpretation using web-based software

1,160 views December 12, 2018

NGS presents clinical laboratories with an ever-increasing amount of novel...

Clinical and Translational

Fast tracking clinical NGS testing with QIAGEN Clinical Informatics services

42 views October 15, 2019

Discover a simpler and faster approach to implementing clinical NGS...

Clinical and Translational

Increasing the efficiency of diagnostic odysseys

48 views September 16, 2019

Despite rapid cost reductions in sequencing technologies and an...