Improving structural variant interpretation for hereditary cancer susceptibility
In this Nature research webinar you will hear from, Katherine Dixon Ph.D. candidate from University of British Columbia, Canada, Dr. Kieran O’Neill, Staff Scientist, Genome Sciences Centre, Canada and Dr. My Linh Thibodeau, Medical Geneticist, The Hospital for Sick Children, Canada as they present there work on improving structural variant interpretation for hereditary cancer susceptibility by applying nanopore long-read sequencing to analysis and decision-making.
Increasing screening and early detection is critical for the prevention of cancer therefore an accurate molecular diagnosis is vital. Around five to ten percent of cancer cases are associated with germline variants present from birth, However, larger variants (>50bp), known as structural variants (SVs), frequently co-occur within repetitive elements, and are often not characterised by short-read sequencing methods.
Oxford nanopore long-read sequencing can characterise and resolve some of these SVs. In this webinar the speakers will demonstrate Oxford nanopore long-reads resolved multiple germline SVs whose impact on gene expression or function could not be fully determined through short-read sequencing and how this technology could enhance informed decision-making by individuals and families when standard clinical testing is uninformative.