Rare Disease
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Structural variants (SVs)
Rare diseases challenge researchers with complex inheritance patterns, limited diagnostic resources, and intricate mechanisms. Structural variants (SVs) like large insertions, deletions, translocations, and repeat expansions often underlie these conditions, presenting both opportunities and obstacles for research.
The Challenge withTraditional Methods
Detecting SVs in rare diseases requires more advanced approaches due to the limitations of traditional technologies.
OhmX Bridges the Gap
Engineered for today's research challenges, the OhmX Platform leverages advanced electronic genome mapping(EGM) to deliver high-resolution SV detection across a range of sizes—from hundreds of base pairs to millions. Unlock insights unattainable with other methods, and make critical breakthroughs in your rare disease research.
Real-World Impact in Rare Disease Research
Confirming SVs in the PHEX Gene
Read how leading researchers like Dr. Catherine Brownstein of Boston Children’s Hospital[1] are using the OhmX Platform to revolutionize their work.
Challenge: Low resolution from optical genome mapping (OGM) failed to confirm a suspected tandem duplication in the PHEX gene linked to hypophosphatemia.
Solution: OhmX's high-resolution EGM technology not only confirmed the variant but also clarified its location, resolving ambiguity and enabling further investigation.
Impact: "The OhmX Analyzer from Nabsys provided the precision and accuracy we needed to thoroughly examine the structural variant, ensuring our confidence in the results.” – Dr. Catherine Brownstein.
[Read the Full Case Study →
Low-Cost Acquisition Options
Our approach delivers exceptionalperformance at a fraction of the cost compared to traditional approaches,enabling scalable, accurate SV detection. With zero upfront costs and an 8genome per month commitment, our Reagent Rental Program makes EGM accessible toall researchers regardless of budget.
Take Control of Your Rare Disease Research
The OhmX Platform redefines rare disease research, providing the critical insights you need to drive meaningful discoveries. Explore how our innovative technology can revolutionize yourapproach to SV analysis.
- Lixing Y. A practical guide for structural variant detection in human genome. Curr Protoc Hum Genet. 2020; 107(1):e103. doi: 10.1002/cphg.103
- Kaivola K, et al. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias. Cell Genom. 2023; 3:100316. doi: 10.1016/j.xgen.2023.100316.
- Shu L, et al. The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases. Genes (Basel). 2023; 14:196. doi: 10.3390/genes14010196
Our Products
The state-of-the-art OhmX Platform uses electronic nano-detectors to deliver the highest resolution for whole genome structural variant analysis. You can now perform whole genome analysis of SVs down to 300bp in size—enabling insights into previously undetectable DNA variations.
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