Applications

Cancer Research

Gain deeper insights and drive breakthroughs in cancer research with the OhmX™ Platform,  powered by electronic genome mapping (EGM) and expertly engineered to unravel the complexities of structural variants (SVs) in cancer genomes.

Cancer Research

Overcoming Challenges in Cancer Genomics

Cancer genomes are notoriously complex—with abnormal chromosome structures, somatic variations, and intricate rearrangements caused by events such as chromothripsis. These obstacles can make the critical, accurate detection of SVs with traditional genomic tools a daunting task. They also create significant obstacles in mapping tumor progression, which is critical for understanding cancer development and treatment resistance.

No single technology is capable of interrogating the complexities of cancer genomics:

  • Short-read sequencing: Meant to detect SNPs and indels, and as a result, may miss SVs and copy number variants (CNVs) in key cancer genes and highly repetitive regions
  • Long-read sequencing: Expensive and subject to sequencing artifacts, with limited detection of large-scale events
  • Karyotyping: Limited to very large-scale events
  • Fluorescence in situ hybridization: Targeted and low resolution, lacks a whole-genome view of structural variation
  • Chromosomal microarray analysis: Limited resolution and detection of balanced translocations and inversions

EGM using the OhmX Platform provides a novel view of the genome. The OhmX Platform empowers researchers with a full picture of genomic variation that includes critical and often undetected SVs in both somatic and germline samples. The results can include anything from deletions and duplications to complex aberrations that will help unravel the complexity of a unique cancer genomic profile.

Why Choose the OhmX Platform for Your Cancer Research?

Cancer-Relevant SV Detection

Many cancers are driven by genomic rearrangements—including deletions, duplications, inversions, and translocations. These alterations can disrupt tumor suppressors, create oncogenic fusions, or drive genome instability, yet they are often missed or poorly resolved by standard sequencing and cytogenetic techniques. EGM delivers high-resolution, genome-wide SV detection—capturing both known and novel rearrangements that are critical for cancer discovery, stratification, and therapeutic development. 

TP53 Deletions

Deletions in the tumor protein p53 (TP53) gene—a critical tumor suppressor—are associated with adverse outcomes across a variety of cancers, including hematologic malignancies. The OhmX Platform identified both large and small homozygous deletions in the TP53 gene.

TP53 deletions in HL-60 and H1299 cell lines visualized in HCE; exons in green, deletions shown as red trapezoids using custom BED annotation.
Figure 1: TP53 deletions in cancer cell line samples visualized in HCE. TP53 exon information is visualized using a custom BED file, with the gene represented as grey and red rectangles and exons shown in green. Deletions are represented as red trapezoids below the alignment. (Top) A large 87 kb TP53 deletion is shown in the HL-60 cell line. (Bottom) A small 3.8 kb TP53 deletion is shown in the H1299 cell line.
PML::RARA Fusions

Likewise, fusion events involving promyelocytic leukemia (PML) and retinoic acid receptor alpha (RARA) genes, particularly the canonical PML::RARA fusion, are hallmark drivers of acute promyelocytic leukemia (APL) and have direct implications for diagnosis and treatment decisions.

PML::RARA fusion breakpoints in NB-4 leukemia cells visualized in HCE using BED files; exons and translocations shown in color-coded rectangles.
Figure 2: PML::RARA fusion in leukemia cell line samples visualized in HCE. PML and RARA exon information is visualized using a custom BED file, with the gene represented as grey and red rectangles. Translocations are represented by purple rectangles. (Top) First fusion breakpoint showing a small region of PML fused to RARA in the NB-4 cell line. (Bottom) Second fusion breakpoint showing a small region of RARA fused to PML in the NB-4 cell line. The NB-4 cell line was purchased from Cytion.

Low-Cost Acquisition Options

Get powerful results without breaking the bank. Our approach delivers exceptional performance at a fraction of the cost compared to alternative approaches. 

With zero upfront costs and an 8-genome per month commitment, our Reagent Rental Program makes EGM accessible to all researchers regardless of budget.

Revolutionize Cancer Research with EGM

The OhmX Platform provides the accuracy and clarity you need to tackle the complexities of cancer genomics. Whether you're uncovering unknown SVs or mapping tumor progression, our cutting-edge technology empowers you to obtain actionable insights with confidence.

Our Products

The state-of-the-art OhmX Platform uses electronic nano-detectors to deliver the highest resolution for whole genome structural variant analysis. You can now perform whole genome analysis of SVs down to 300bp in size—enabling insights into previously undetectable DNA variations.

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