Optical mapping with genome imaging for accurate analysis of structural variations in cancer

Bionano Genomics
Dr. Sven Bocklandt | October 15, 2019

Accumulation of structural variations (SVs) across the genome is a known trigger factor for oncogenesis. Identifying these structural genomic alterations – accurately and comprehensively – is crucial for improving research and ultimately therapies for cancer patients, yet one of primary challenges when solely relied on short read sequencing and standard cytogenetic methods (e.g. karyotyping, FISH and chromosomal microarrays).

Optical mapping with genome imaging, enabled by the Bionano Saphyr® System, can accurately assemble and assay relevant regions for complex genomic disorders like cancer, even those involving very large segmental duplications. Genome imaging has to date unraveled a number of genes, never implicated in cancer and shown how they are affected by structural variations, along with deciphering novel structural variants. Listen to this webinar to learn how combining genome imaging with whole genome sequencing offers a strong integrative approach to understand small and large genomic variations in cancers.