Cancer Research

Cancer genomes are notoriously complex—with abnormal chromosome structures, somatic variations, and intricate rearrangements caused by events such as chromothripsis. These obstacles can make accurate detection of SVs with traditional genomic tools a daunting task. They also create a significant challenge 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: Designed primarily to detect SNPs and indels; therefore, it is likely to 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 challenges in comprehensively resolving highly complex genomic rearrangements.
• 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.

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. 

Detection of TP53 Deletions

Deletions in TP53—a critical tumor suppressor gene—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.

Detection of RUNX1::RUNX1T1 Gene Fusions

The RUNX1::RUNX1T1 fusion resulting from the t(8;21) translocation is a critical risk marker of acute myeloid leukemia (AML) and is sufficient for identification of the disease subtype.

Genome-Wide Copy Number Variation (CNV) Detection

Copy number gains and losses are hallmarks of malignant genomes, including in hematologic cancers. EGM data can be used for genome-wide copy number profiling, which, when combined with structural variant detection via de novo assembly in HCE, can provide a broader view of genomic alteration patterns across the genome.*

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.

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.