High-Resolution Detection of Structural Variants Associated with Leukemia Using EGM

Structural variants such as TP53 deletions and PML::RARA gene fusions are clinically significant in hematologic malignancies, yet remain challenging to detect with traditional sequencing and cytogenetic tools. The Nabsys OhmX™ Platform, powered by electronic genome mapping (EGM), delivers scalable, cost-effective, and high-confidence detection of these variants—enabling breakthroughs in translational cancer research.

In this poster, you’ll learn:

• How EGM overcomes the limitations of short-read sequencing, long-read sequencing, and FISH/CMA
• High-resolution mapping of TP53 deletions (87 kb to 3.8 kb) in leukemic cell lines
• Confirmation of PML::RARA reciprocal translocations using a dense tagging and electronic detection strategy
• Why EGM is a valuable complement to sequencing and cytogenetics in hematopathology

With its ability to detect variants as small as 300 bp and provide clear, orthogonally validated insights, the OhmX™ Platform sets a new benchmark for precision SV detection in leukemia.