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Cancer Genomics: Heme Malignancies and
Solid Tumor Research

Cancer genomes are complex – In order to assess pathogenic and actionable variants across hematological and solid tumors, it is critical to detect the full spectrum of genomic alterations, from small variants to all classes of chromosomal aberrations.
Classical cytogenetic as well as next-generation sequencing (NGS) approaches are missing important structural variants in cancer genomes.


Bionano’s optical genome mapping (OGM) uncovers all classes of structural variants, including those not seen by NGS or classical cytogenetics, down to 5% variant allele fraction.

Unbiased, Genome-wide SV Detection for Complex Cancer Samples

Cancer samples are too complex for low-coverage whole genome sequencing. Complex rearrangements, tumor heterogeneity and unsequenceable repetitive regions of the genome present additional challenges for short- and long-read sequencing technologies.

The Bionano Saphyr® System detects structural variations in an unbiased manner at much higher sensitivities than sequencing-based technologies, and routinely at 5% variant allele fraction.

  • Supplement NGS samples with OGM to achieve a true comprehensive genomic profile of cancer samples and maximize detection of pathogenic variants
  • OGM can be easily implemented by any lab, from cytogenomics to molecular pathology. OGM workflow is simple, based on common pipetting steps, no need for cell culture or looking at a microscope for result analysis
  • Bionano provides kits, automation protocol, platform for sample processing, and software for data analysis, for a complete end-to-end solution that can be easily implemented

In addition, classical cytogenetic methods are either too targeted, miss key chromosomal aberration classes, or lack resolution for precise detection.

Our tools and platforms provide unparalleled structural variation detection for cancer research.

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