Implications of Next Generation Sequencing in Molecular Diagnosis of Cancer

Genetic testing requires screening of the entire gene, which by conventional sequencing is time consuming and expensive. Next Generation Sequencing (NGS) based approaches increase the sensitivity of mutation detection, making it fast and cost-effective compared to the conventional tests performed in a reflex-testing mode. Strand NGS includes workflows with quality assessment and filter sections that do not require any manual intervention. Post-analytical workflows in Strand NGS allow users to execute sequence analysis with stringent filtering to eliminate false positive and low quality reads. This simplifies the analysis in large scale cohort settings, where every sample needs to be processed identically.

In this webinar we will discuss the implications of next generation sequencing based tests in multi-gene testing. We will also show how NGS based tests help to identify copy number variations, split read analysis and breakpoint identification. Finally, we will show a brief glimpse of Indian cohort data, where NGS based tests have shown improved mutation detection. In this webinar, we will present clinical case studies on Hereditary Breast and Ovarian Cancer (HBOC) and Retinoblastoma patients to demonstrate how CNV analysis in Strand NGS enables researchers to detect and visualize copy number changes ranging from single exon to full gene.