Nabsys showcases electronic genome mapping advances at ASHG 2025
Nabsys 2.0, LLC presented data on its OhmX™ Platform at the American Society of Human Genetics (ASHG) Annual Meeting in Boston, Massachusetts, from 14-18 October 2025. The presentations demonstrated applications of electronic genome mapping (EGM) technology in multiple disease states, including interstitial cystitis/bladder pain syndrome, hematological malignancies, and repeat expansion disorders.
Multi-omics study reveals psychiatric comorbidities in bladder pain syndrome
A multi-disciplinary research team from Boston Children’s Hospital presented findings from a comprehensive study examining interstitial cystitis/bladder pain syndrome (IC/BPS). The poster, titled “Comprehensive Multi-Omics Study of Interstitial Cystitis/Bladder Pain Syndrome” (Poster # 4101T), combined exome sequencing with Nabsys OhmX Platform analysis of 248 patients from the Boston Children’s Hospital IC/BPS cohort and 100 individuals from the Maryland Genetics of Interstitial Cystitis Study (MaGIC) cohort, totalling 348 patients. The data was compared against 11,981 controls using gene-based collapsing, gene set, exome-wide association study (ExWAS), trio and diagnostic approaches.
The study found that 70% of individuals with IC/BPS had a psychiatric diagnosis, with depressive and anxiety disorders accounting for 55% of cases. Proteomics analysis identified 13 differentially expressed proteins and enrichment of several pathways. Whilst no single gene was associated with IC/BPS risk, collapsing analyses produced new candidate genes, including DYX1C1 and HTR7, alongside a novel association with the “small molecule transport” gene pathway.
The association of IC/BPS with previously identified Mendelian disease genes (ATP2C1, DCAF8, SIX5, ENAM, and ATP2A2) was strengthened (odds ratio 7.4, confidence interval 1.6-26.4, p-value 0.005). Notably, the presence of anxiety as a comorbid condition increased the odds ratio of having a variant in the Mendelian gene list to 29.2 (confidence interval 3.0-146.6, p-value 0.003).
The researchers utilised the Nabsys OhmX Platform to identify a previously undetected translocation (t3;9) involving NOTCH1 in one individual. The finding is notable given that loss of ATP2C1 leads to impaired NOTCH1 signalling.
“Interstitial cystitis and bladder pain syndrome are characterized by persistent and distressing symptoms that frequently lead to poor quality of life and high levels of mental stress, but there is no known cause or available treatment option for this condition, which affects millions of people in the U.S. alone,” said Elicia A. Estrella, M.S., LCGC, Boston Children’s Hospital. “In this multi-omics study, we gained a greater understanding of IC/BPS’s detrimental effect on a patient’s mental health, and we utilized Nabsys’s advanced EGM technology to uncover new findings on how this condition and its co-morbidities are linked to the human genome. By providing clinicians, patients, and care-givers these novel insights into IC/BPS, we take an important step forward as we work
to improve holistic patient outcomes.”
Structural variant detection demonstrated in haematological malignancies
Nabsys presented data showing the OhmX Platform’s capability for detecting structural variants in haematological malignancies (Poster # 8028T: “Electronic Genome Mapping as a Tool for Detection of TP53 Deletions in Genomic Analysis”). Using a dense, sequence-specific tagging strategy and an electronic detection system with approximately 300 base pair resolution, EGM technology mapped a reciprocal PML::RARA gene fusion event, a BCR::ABL1 translocation, and several TP53 deletions. The platform enabled high-confidence mapping and detection of these clinically significant structural variants.
Repeat expansion analysis validated for Fragile X syndrome
The company demonstrated EGM’s application in repeat expansion detection through a new pipeline called RepX Analysis for Repeat Disorders (Poster # 4065T: “Electronic Genome Mapping for High-Throughput Analysis of Repeat Expansion Disorders”). Researchers reported that EGM represented an improvement over existing repeat expansion analysis tools, providing a scalable solution for comprehensive repeat expansion testing in Fragile X syndrome, the most common inherited form of intellectual disability.
CRISPR/Cas9 integration enhanced platform accuracy
A fourth poster (Poster # 4068T: “Improving Electronic Genome Mapping Coverage With CRISPR/Cas9”) demonstrated how CRISPR/Cas9 technologies integrated into the EGM workflow provided benefits for structural variant analysis. The researchers used CRISPR/Cas9 to repair unwanted double-stranded proximity breaks caused by EGM sample preparation. Additionally, CRISPR/Cas9 was used to increase specific tagging density to enhance genome mapping resolution.
“Looking specifically at Nabsys’s work detecting translocations and TP53 deletions, we found that our proprietary EGM methodology identified these markers of haematologic cancers with incredible accuracy, demonstrating the value of this platform as a scalable and cost-effective solution in translational cancer research,” said Barrett Bready, M.D., founder and CEO of Nabsys. “In addition, we presented a poster demonstrating how Nabsys’s applied EGM technology improves upon traditional and next-generation sequencing approaches by revealing repeat expansion disorders such as Fragile X syndrome, the most common inherited form of intellectual disability. We believe these results, combined with our findings that show CRISPR/Cas9 as a viable repair method for double-strand breaks in sample preparation, demonstrate how our product will continue to enable breakthroughs in scientific research by elucidating genetic mediators of disease that were previously believed to be resource-intensive, or even untraceable.”
The presentations are available on the “Resources” section of the company’s website at www.nabsys.com/resources?category=Posters. Nabsys announced a total of eight EGM presentations at the ASHG Meeting, with the full list available at the company website.
Nabsys 2.0, located in Providence, Rhode Island, develops electronic genome mapping technology aimed at advancing disease understanding, increasing diagnostic yield, and improving patient outcomes through analysis of genomic structural variation.
For more information, visit: https://www.nabsys.com
