CoLab Session hosted in partnership with Boston Children's Hospital
Poster presentation unveils process improvement advances in electronic genome mapping (EGM) technology that accelerate and boost structural variant (SV) identification while maintaining equivalent precision
Eight presentations atASHG 2025 Annual Meeting demonstrate Nabsys' leadership in EGM technology
Nabsys 2.0, LLC (Nabsys), a pioneer in electronic genome mapping technology, today presented new findings that highlight the OhmX™Platform's ability to accurately verify structural variants in undiagnosed disorders and workflow optimizations at the American Society of Human Genetics (ASHG) Annual Meeting taking place on October 14-18, 2025, in Boston, MA.
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In partnership with Boston Children's Hospital,Nabsys presented real-world applications of the OhmX Platform in undiagnosed disorders during a Google Colaboratory (CoLab) Session today. Thesessionreviewed the use of electronic genome mapping (EGM) technology at a tertiary children's hospital and how the OhmXPlatform works in symphony with a comprehensive multi-omics strategyto accelerate rare disease gene discovery.
CatherineBrownstein, M.P.H., Ph.D., Boston Children's Hospital remarked, “Nabsys' EGM technology, which delivers high resolution analysis of genome-wide structural variation, enabled us with insights into previously undetectable structural variation and has thus become a crucial tool to understand underlying disease etiology of particularly rare or difficult-to-diagnose diseases. Today's presentation demonstrates the importance of Nabsys' groundbreaking technology for accelerating research in a hospital setting and ultimately getting physicians and patients the answers they need.”
“We are pleased to present a breadth of new and important research at this year'sASHG meeting that elucidates the real-world impact our product, the OhmX Platform, is having on researchers,” said Barrett Bready, M.D., founder and CEO of Nabsys. “TheCoLab session and our research speak to the importance of speed, accessibility, and accuracy in researching whole-genome structural variations, and we are proud to share additional data in the coming days that demonstrate how our platform has revolutionized genome mapping.”
Nabsys also presented new findings in a poster titled, “Accelerated Electronic Genome Mapping with Simultaneous Dual Nicking & Labeling: Boosting Structural Variant Calling on the OhmX Platform” (Poster # 4089W), that show howimplementation of a novel simultaneous dual nicking and labeling (SNL) chemistry for EGM sample preparation workflow significantly reduces the time and complexity of sequence-specific DNA labeling, while improving assembly contiguity and structural variant (SV) calling across the human genome. When comparing assembly and SV-calling results from various samples prepared using SNL and standard sequential nicking and labeling approaches using the OhmX Analyzer and Human Chromosome Explorer®, the Company observed a 1.8-fold increase in assembly contiguity associated with a 24% increase in SV recall and equivalent precision with the new SNL chemistry.
“Streamlined workflows inEGM technology are essential for reducing user variability and sample-to-answer time, especially for researchers and clinicians diagnosing disease or abnormalities in time-sensitive situations, such as the prenatal setting,” said Jay Sage, Ph.D., Senior Director – Assay Development at Nabsys. “By implementing SNL workflows and removing heat inactivation, we are able to achieve faster results without compromising the integrity of the output. In fact, we found these process improvement strategies actually boost the OhmX Platform's ability to identify structural variants that drive disease phenotypes, providing scientists with a more holistic view of the human genome. We look forward to implementing these processes in the lab as we pioneer the next evolution of genomics.”
Today's presentations are available on the “Resources” section of the Company's website atwww.nabsys.com/resources?category=Posters.
Nabsys has announced a total of eight EGM presentations at the ASHG Meeting. The full list of presentations is available here.
About Nabsys 2.0, LLCThe Nabsys 2.0, LLC (“Nabsys”) mission is to advance the understanding of disease, increase diagnostic yield, and improve patient outcomes by enabling routine, accurate, cost-effective analysis of genomic structural variation. Located in Providence, RI, Nabsys employs a growing interdisciplinary group of dedicated scientists, engineers, and other professionals committed to the advancement of genomic analysis.
For more information, visit https://www.nabsys.com.
Media ContactDavid RosenArgot PartnersDavid.rosen@argotpartners.com646-461-6387
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