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On May 11, 2017, Dr. James Broach from Penn State University Hershey presented a webinar with Bionano. He detailed how he used the Bionano genome mapping platform to identify large structural variations in acute myeloid leukemia (AML) and other hematologic malignancies.

Dr. Broach says that structural variations are not readily identified by next-generation sequencing methods and are currently diagnosed by traditional cytogenetics, an intrinsically low-resolution tool.

In an attempt to improve on these traditional methods, he utilized Bionano genome mapping to detect structural variations in a variety of cancer cell lines, and directly from leukemia patient blood samples.

In all cases, he identified the structural variants reported by classic cytogenetic analysis and, in addition, a large number of translocations, deletions, and insertions not observed by cytogenetics. Since many of these variants have never been detected before, their role in cancer has not been studied.

He concluded that Bionano’s structural variation detection allows us to look deeper into cancer genomes than ever before. He did all this work on his Bionano Irys® instrument, but was one of the first to purchase the Bionano Saphyr™ system when it was announced.

We can’t wait to see all the exciting results that the throughput and speed of Saphyr can bring to his work!

See Dr. Broach’s webinar here.

The presentation from Dr. Broach’s webinar is available here.

About Dr. James Broach: Dr. Broach is Distinguished Professor and Chair of the Department of Biochemistry and Molecular Biology at Penn State Hershey, Director of the Penn State Institute for Personalized Medicine and Professor Emeritus of Princeton University. Dr. Broach was Professor of Molecular Biology at Princeton University from 1984-2012, where he served as Associate Director of the Lewis Sigler Institute for Integrative Genomics and Co-Director of the Center for Computational Biology. Dr. Broach has served as a member of both the Genetics and the Genomics Study Sections and Chair of the Genomics, Computational Biology and Technology Study Section of the National Institutes of Health as well as chair of numerous special emphasis genomics panels. He was Co-Founder and Director of Research for Cadus Pharmaceuticals from 1992 to 2000.

Dr. Broach is a Fellow of the American Academy of Microbiology and a Fellow of the American Association for the Advancement of Science. Dr. Broach has published more than 175 articles in the area of molecular biology and genomics and holds a number of patents in drug discovery technologies.


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