At Bionano’s ASHG workshop, Dr. Jim Broach from Penn State University explained how Bionano mapping first on Irys, and now on Saphyr, allows him to discover what’s going on in leukemia genomes. He showed some of the first patient-derived de novo cancer genome assemblies, built with Bionano, which help him identify novel cancer predisposing mutations. He also discussed how Bionano’s sensitivity for all structural variants but specifically for translocations makes it a possible successor to current cytogenetic methods.
We recorded the entire workshop. Watch Jim’s talk above, or click through to the Bionano update and presentations by Vanessa Hayes and Hayk Barseghyan. You can also listen to a podcast interview with Jim, more details in this Bionano U post.