Nabsys’ Electronic Genome Mapping technology detected clinically relevant genomic abnormalities across five samples of acute and chronic myeloid leukaemia in a proof-of-principle study from Augusta University.

EGM matched standard cytogenetic findings

The study, published as a preprint on medRxiv, evaluated the Nabsys OhmX platform using previously characterised bone marrow aspirate samples from four patients with acute myeloid leukaemia (AML) and one with chronic myeloid leukaemia (CML).

Researchers compared Electronic Genome Mapping (EGM) findings with karyotyping, fluorescence in situ hybridisation (FISH) and optical genome mapping (OGM).

EGM detected all six abnormalities reported by standard-of-care cytogenetic testing and all nine corresponding calls identified by OGM, giving 100% concordance in the five-sample study.

The abnormalities included two BCR::ABL1 rearrangements, as well as whole-chromosome copy number changes including trisomy 4, trisomy 21 and monosomy 7. EGM also detected deletions and other structural abnormalities.

The findings are particularly relevant to the way genomic abnormalities are characterised in haematological malignancies, where multiple complementary tests can be required because individual methods have different analytical limitations.

Ravindra Kolhe, professor and chair of the Department of Pathology at Augusta University, said: “In this initial five-sample proof-of-principle study, EGM detected all of the abnormalities identified by standard cytogenetic testing and OGM while also providing additional structural information in complex cases.”

Technology provided additional structural information

In one of the more complex AML samples, EGM provided information beyond that identified through karyotyping and FISH.

A chromosome 20 abnormality reported by karyotyping and FISH as a deletion of 20q was characterised by EGM as an intrachromosomal fusion. The analysis also confirmed the associated loss of 20q material, providing information about both the genomic material that had been lost and the way the chromosome had rejoined.

EGM also identified an approximately 1.8 Mb loss at 7q22.1 that was not detected by karyotyping or FISH. The region contains 45 genes, including CUX1, which is associated with cancer.

The study also detected a KMT2A partial tandem duplication (KMT2A-PTD), a variant associated with AML that had previously been identified by OGM.

The researchers said the findings suggest that EGM can provide genome-wide information about structural variants and copy number alterations while adding breakpoint detail beyond the resolution of conventional karyotyping.

The OhmX platform uses electronic detection of ultra-long DNA molecules rather than the optical systems used by OGM. Nabsys says its approach combines electronic detection, nanofluidics and computational biology to analyse genome structure.

Larger studies needed to assess clinical potential

The study is an early evaluation, however, and the researchers stressed the need for further investigation in larger and more diverse patient cohorts.

All five samples passed quality control, but the small number of specimens means the findings do not establish the performance of EGM across the wider population of patients with haematological malignancies.

The preprint’s authors concluded that the results support further studies across additional disease subtypes to assess whether EGM could eventually be used as a first-line genome-wide cytogenomic tool.

The study involved researchers from Augusta University, Nabsys 2.0 and Hitachi High-Tech America. Three of the authors are employees of Nabsys, while the study’s corresponding author, Ravindra Kolhe, is based at Augusta University.

Barrett Bready, founder and CEO of Nabsys, said: “What is significant about this study is that EGM demonstrated complete concordance with both conventional cytogenetics and OGM methodologies.”

The OhmX platform is currently designated for research use only and is commercially available to laboratories worldwide.

The study, “Electronic Genome Mapping Enables High-Resolution Cytogenomic Profiling of Hematologic Malignancies: A Proof-of-Principle Study”, was posted on medRxiv on September 14, 2026.