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  • Dr. Rashmi Kanagal-Shamanna: Whole genome mapping as a novel molecular diagnostic tool in Myelodysplastic Syndromes
 

Watch this seminar to learn how Bionano technology identifies novel structural variants including complex rearrangements of multiple chromosomes.

At the 2019 meeting of the Cancer Genomics Consortium (CGC), Professor Rashmi Kanagal-Shamanna, Microarray Director in the Molecular Diagnostics Lab of the University of Texas MD Anderson Cancer Center, presented how Saphyr technology revealed structural variants that were missed by karyotyping and chromosomal microarray. In this study, 7 patient samples with Myelodysplastic Syndrome (MDS), a precursor to leukemia characterized by the presence of large structural variants, were analyzed using Saphyr technology. This whole genome imaging approach enabled elucidation of a complex rearrangement involving three chromosomes, with deletions and duplications at the breakpoints, all of which were not captured by other cytogenetic methods.

Other CGC presentations included an introduction on Bionano’s genome mapping technology and its use in cancer discovery by Dr. Sven Bocklandt, and you don’t want to miss Dr. Brynn Levy’s talk on his use of Bionano in patients with AML and ALL.

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