Introducing cancer genomics with long reads


The last twenty years have experienced extensive growth in the sequencing of cancer genomes, leading to a dramatically increased understanding of the role of genetic and epigenetic mutations in cancer. This has largely been enabled by developments in short-read sequencing, but high-throughput instruments from Oxford Nanopore are poised to displace short-read sequencing for many applications.

Using long-read technology, tens of thousands of variants per cancer genome have been discovered that are not detectable using short reads, including structural variants and differentially methylated regions in known oncogenes and cancer risk genes. In this webinar, Prof. Michael Schatz described several ongoing efforts in their lab to develop methods to improve the analysis of cancer genomes using nanopore sequencing, including improved methods for finding structural variants and advances for nanopore signal analysis.

Prof. Schatz also discussed the future of cancer genomics, with the goal of telomere-to-telomere resolution of cancer genomes so that all possible genetic and epigenetic variants can be found and analyzed.

Watch this webinar to learn:

  • How short molecule nanopore sequencing increases read count and enables accurate copy number detection in cancer genomes
  • How structural variant refinement, comparison and population analysis can be made faster with the Jasmine tool
  • How UNCALLED and UNCALLED4 can benefit your nanopore signal analysis
  • The role of telomere-to-telomere genomes now and in the future of cancer genomics
Authors: Michael Schatz