If you've already registered, please click here to log in to the webcast

Around five to ten percent of cancer cases are associated with germline variants present from birth. Accurate molecular diagnosis of individuals carrying pathogenic germline variants enables increased screening, early detection and prevention for themselves and their family members.

However, larger variants (>50bp), known as structural variants (SVs), frequently co-occur with repetitive elements, making them difficult to characterize using short-read sequencing technologies.

In this webcast, the speakers will demonstrate the utility of Oxford Nanopore sequencing for resolving germline SVs that had been previously detected in cancer predisposition genes using short-read genome sequencing. Long-read sequencing resolved multiple germline SVs whose impact on gene expression or function could not be fully determined through short-read sequencing.

They will share how this technology could enhance informed decision-making by individuals and families when standard clinical testing is uninformative.

Learn how to:

• Recognize current challenges in molecular genetics for identification and management of cancer predisposition syndromes
• Evaluate when long-read sequencing might be the appropriate tool for resolving and interpreting germline structural variation
• Integrate molecular and bioinformatics knowledge to begin implementing long-read sequencing in the clinic