New Developments in Long Read Optical Mapping Enable Novel Applications for Cancer and Genetic Disease
Sven Bocklandt, PhD
Bionano Genomics, Inc. Director, Scientific Affairs
The diagnostic yield in genetic disease has seen very little improvement over the last few decades, despite the introduction of whole genome sequencing. The promise of personalized medicine in cancer remains elusive, because no single technology can comprehensively detect all the rearrangements in the cancer genome.
Bionano Genomics? platform for whole genome mapping offers an extremely long-read technology, providing unmatched sensitivity to detect structural variation, genome wide, at low cost. Our de novo maps can resolve complex repetitive regions, identify Copy Number Variations, and elucidate genome-wide structural variation like balanced/unbalanced translocations, inversions, and indels with much higher sensitivity and precision than sequencing-based methods.
For heterogeneous cancer samples or cases of mosaicism, Bionano?s extremely high coverage depth allows for the detection of any type of structural variant with more than 80% sensitivity, present in as little as 10% of the cells, genome wide, and completely unbiased.
Examples will be presented of how Bionano?s platform is helping provide a molecular diagnosis for patients with undiagnosed genetic disorders, and how it elucidates genomic rearrangements in cancer that are missed by NGS and cytogenetic methods.
Thanks to the following:
Kristen Jepsen, Ph.D. | Director, IGM Genomics Center | UC San Diego
Elsa Molina, Ph.D.| Stem Cell Genomics Core Director | UC San Diego Stem Cell Program
Nasun Hah Ph.D.| Director, Next Generation Sequencing | Salk Institute for Biological Sciences
?Lunch will be provided. Please register so we can ensure an accurate headcount.
Have questions? Email: hmashhoodi@bionano genomics.com
For details, link here: https://bionano-lajollaseminar.eventbrite.com
From Apr 29, 2019 12:00PM to Apr 29, 2019 01:00PM at Sanford Consortium for Regenerative Medicine – 2800 Torrey Pines Scenic Dr – Conference Room #1013 – La Jolla, CA 92037