Nabsys 2.0, LLC

Nabsys 2.0, LLC

By Nabsys

Proof-of-principle study highlights 100% concordance between Electronic Genome Mapping, standard cytogenetic methods, and Optical Genome Mapping in the detection of clinically relevant structural variants and Copy Number Variants

PROVIDENCE, R.I., Sept. 16, 2026 /PRNewswire/ -- Nabsys 2.0, LLC ("Nabsys"), a pioneer in Electronic Genome Mapping (EGM), today announced results from a proof-of-principle study led by researchers at Augusta University evaluating the Nabsys OhmX™ Platform for cytogenomic analysis of hematologic malignancies. The study, published as a preprint on medRxiv, evaluated previously characterized bone marrow aspirate samples and compared EGM findings with karyotyping, fluorescence in situ hybridization (FISH), and optical genome mapping (OGM).

The study included four acute myeloid leukemia (AML) samples and one chronic myeloid leukemia (CML) sample representing several classes of chromosomal abnormalities. Across the five samples, EGM detected all pathogenic abnormalities reported by standard-of-care cytogenetic testing and all corresponding genomic abnormalities identified by OGM. These included BCR::ABL1 rearrangements, whole-chromosome copy number changes including trisomy 4, trisomy 21, and monosomy 7, as well as deletions and more complex structural abnormalities. Smaller and difficult to detect variants, such as KMT2A partial tandem duplication (KMT2A-PTD), which is associated with AML, was also detected by EGM. In one complex AML sample, EGM provided both structural and copy number variation beyond karyotyping (KT) and FISH. EGM characterized a chromosome 20 abnormality as an intrachromosomal fusion while its copy number analysis confirmed the associated loss of 20q material. EGM also identified an approximately 1.8 Mb loss at 7q22.1 that had not been reported by KT or FISH.

The Augusta University team, led by Ravindra Kolhe, M.D., Ph.D., FCAP, has an established research program evaluating genome mapping in hematologic malignancies. The study evaluated whether EGM, which uses electronic detection methods, could identify and characterize genomic abnormalities in previously characterized specimens.

"Our laboratory has extensive experience evaluating genome mapping in hematologic malignancies, and we were interested in understanding how an electronic approach would perform in well-characterized specimens," said Dr. Kolhe, Professor and Chair of the Department of Pathology at Augusta University. "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. These results support further evaluation of EGM in larger and more diverse cohorts."

"We are thrilled to see the publication of this study on EGM for the evaluation of structural and copy number variations across the entire genome," said Barrett Bready, M.D., Founder and CEO of Nabsys. "Genome mapping is an important tool for the cytogenomics and molecular genomics research communities. What is significant about this study is that EGM demonstrated complete concordance with both conventional cytogenetics and OGM methodologies. I would like to congratulate the Augusta University team as they advance EGM in hematologic malignancy research."

"This initial study on EGM, an important collaboration with Augusta University, is a significant milestone for Nabsys. Dr Kolhe has advanced genome mapping methodologies for both constitutional disorders and heme-onc applications in his laboratory. I am pleased to see the Kolhe Lab study results demonstrate the ability of this innovative electronic detection technique to detect important genomic abnormalities that have impact on hematological malignancy research. We believe this technique has the potential to bring genome mapping into a more accessible and scalable format, and look forward to more publications across larger retrospective, prospective, and more diverse cohorts," said Alka Chaubey, Ph.D., Chief Medical and Genomics Officer of Nabsys.

The OhmX Platform uses Nabsys' proprietary EGM technology to analyze ultra-long DNA molecules electronically. Unlike traditional genome mapping systems that rely on lasers, cameras, and complex optics, EGM combines electronic detection, nanofluidics, and computational biology in a compact platform designed to provide high-resolution information about genome structure.

The study, Electronic Genome Mapping Enables High-Resolution Cytogenomic Profiling of Hematologic Malignancies: A Proof-of-Principle Study, is available as a preprint on medRxiv.

The link to the publication is: https://www.medrxiv.org/content/10.64898/2026.09.11.26362883v1

The OhmX Platform is a research-use-only EGM technology that is commercially available to laboratories worldwide.

About Nabsys 2.0, LLC

Nabsys is advancing genomics through its proprietary Electronic Genome Mapping (EGM) technology. Implemented on the OhmX™ Platform, EGM integrates precision electronics, nanofluidics, and computational biology to deliver high-resolution insight into genome structure. This approach is designed to expand what is possible in cytogenetics, molecular genetics, and cell and gene therapy research by supporting comprehensive structural variation analysis. The company is based in Providence, Rhode Island. For more information, visit www.nabsys.com.

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