Bionano's Saphyr Plays Essential Role in Identifying Three Previously Unknown Genetic Mutation Types in Cancer in Study from Weill Cornell
Retrieved on:
Thursday, October 8, 2020
The study identified three new distinct classes of structural variations (SVs) in the DNA of thousands of cancer samples across multiple cancer types, and used Saphyr to characterize the precise structure and genomic location of these variations.
Key Points:
- The study identified three new distinct classes of structural variations (SVs) in the DNA of thousands of cancer samples across multiple cancer types, and used Saphyr to characterize the precise structure and genomic location of these variations.
- These previously unknown types of complex rearrangements help explain different mechanisms that enable cancer cells to expand and grow rapidly while simultaneously evading natural defense mechanisms and treatment.
- With the addition of Bionanos Saphyr data, the study demonstrated that these structural variants generate a large number of fusion proteins and represent therapeutic targets and/or prognostic biomarkers of disease progression.
- While cancer genomes traditionally have been studied with a combination of low-resolution cytogenetic methods or with next-generation sequencing (NGS), Bionanos Saphyr instrument provides long-range data that enables a high-resolution, long-range view into the cancer genome and cancer biology.