Technology

Software & Analytics

OhmX Platform enables whole genome variant discovery and verification with real-time processing and cloud-based analysis for fast, accurate results.

Nabsys provides comprehensive software and analytics solutions designed to streamline electronic genome mapping (EGM) workflows. Our cutting-edge platform delivers high-quality data acquisition, targeted analysis and genome-wide structural variant (SV) discovery.

OhmX Analytical Pipeline

OhmX™ Software | SV-Verify™ | Human Chromosome Explorer™ (HCE)

Primary Analysis

OhmX Platform powered by Electronic Genome Mapping

OhmX Software

Instrument control software
Raw data acquisition
Molecule creation

Secondary Analysis

What SVs are present?

Are specific SVs present?

Human Chromosome
Explorer™ (HCE)

HCE

Specialty Pipelines

SV-Verify™

Genome-wide de novo assembly-based variant calling

Application-specific tools
Curation tools

Targeted alignment-based variant calling

OhmX Software

High-Resolution Data Acquisition and Primary Analysis

How It Works

Performs raw data acquisition with real-time signal processing to transform electronic signals into millions of detailed DNA molecule maps.

Monitors instrument runs continuously to detect sample quality issues promptly.

Conducts rigorous quality checks on data to provide a comprehensive set of data metrics for in-depth quality assessment and troubleshooting.

Key Benefits

Ensure optimal data quality during acquisition

Monitor real-time metrics to confirm run performance

Identify sample, sample isolation, and sample preparation issues quickly

Save time and resources by eliminating unnecessary data collection

SV-Verify

Targeted Variant Confirmation

How It Works:

Uses alignment-based variant calling to confirm SVs accurately

Analyzes predefined variant panels with high efficiency, even at low coverage

Tech Notes

Verification of Structural Variants in Tumor Cells using EGM

How to Determine Candidate SVs with SV-Verify

Candidate SV Confirmation with SV-Verify.

Key Benefits:

Confirms SVs identified through various genomic technologies like sequencing, microarrays, FISH, and karyotyping

Enhances the reproducibility and reliability of SV results

Facilitates easy creation and reuse of variant panels for consistent, rapid verification across multiple samples

Performance:

At 50x coverage, SV-Verify can detect the following heterozygous or homozygous variants:

Deletions > 500 bp with > 90% accuracy

Insertions > 500 bp with > 90% accuracy

Inversions > 20 kbp with > 95% accuracy

Tandem Duplications 20–100 kbp with > 95% accuracy

Learn More About Performance

*SV-Verify accuracy is reported for in silico datasets containing randomized, genome-wide variants. Each size bin includes 200 variants comprising both true positives and true negatives with accuracy reported.

Experiments with 50x and 150x coverage are shown to compare low and high coverage performance. Minimal differences were observed across all SV types. A single OhmX Detector can be used to achieve 50x coverage, making SV-Verify a cost-effective solution for SV confirmation.

Balanced Accuracy of Insertions and Deletions. The black dotted line represents the 90% accuracy threshold “Insertions with Known Seq/Map” refer to cases where the sequence or map of the insertion is known, such as when derived from sequencing or mapping. “Insertions Unknown Seq/Map” indicates that no sequence or mapping data of the insertion is available, such as when derived from microarray or other technologies.

Inversions perform well in all size classes tested.

Balanced Accuracy of Inversions. The black dotted line represents the 95% accuracy threshold.

Balanced Accuracy of Tandem Duplications. The black dotted line represents the 95% accuracy threshold.

Insertions with unknown sequences and tandem duplications over 100 kbp are not reported due to an anticipated decrease in accuracy. Accurate SV confirmation requires molecules to span the entire candidate insertion in the construct when sequence is unknown or duplicated region in the reference, which becomes increasingly unlikely as SV size increases.

Human Chromosome Explorer (HCE)

Comprehensive Genome-wide SV Discovery

How It Works:

Detects SVs through de novo assembly of map contigs derived from OhmX data and alignment of contigs to a chosen human reference such as GRCh37, GRCh38, or T2T
Provides tools to compare SV calls against published and proprietary datasets
Offers filtering based on variant type, size, gene locus, and frequency
Features interactive visualization of contig-to-reference alignments and detailed assembly views at variant locations
Allows export of results in multiple file formats for flexible reporting and downstream analysis
Operates via a secure, cloud-based platform for ease of access and collaboration
Allows SV types such as insertions, deletions, and tandem duplications to be discovered with confidence

Brochures

Boston Children's Hospital Case Study

De Novo SV Discovery using HCE

Key Benefits:

Discovers novel SVs missed by other technologies

Accelerates genomic research through intuitive, cloud-based analytics

Simplifies complex data interpretation and reporting

The Assembly Viewer

The Assembly Viewer shows single molecule maps and how they align to create map contigs. This view shows label locations and molecule orientation, depth, coverage, and length.

The Results Summary View

The Results Summary View is the analysis dashboard which displays SV type and count in a pie chart and a global view of all chromosomes including electronic genome map coverage, known genes, and SV calls. From here users can launch a Circos Plot viewer.

The Alignment Viewer

The Alignment Viewer shows all map contigs aligned to the reference of the selected chromosome. This interactive viewer displays more detailed information including map contig and SV size and location, molecule depth, selected interval size, and more.

HCE’s Circos Plot

HCE’s Circos Plot viewer showing a translocation on chromosome.

Curious about your genome region? Let OhmX analyze it.

Share your region of interest, and we’ll show how OhmX can assemble it using proximity-based nicking patterns. Contact us to discuss the best analytical tools for your research.

Get in Touch

Security

Enhanced Compliance and Encryption Features

Along with data encryption, Google Cloud Platform provides a cloud infrastructure with robust built-in compliance and security features applied to the physical datacenter, and the network. Hitachi has further built upon this infrastructure to create a secure platform for genomic data called the HCE Security Framework.

Learn More About HCE Security

All software products are developed by Nabsys or in collaboration with Hitachi High-Tech. Nabsys offers customized enterprise solutions to meet your needs, available on request.

Explore the EGM Pipeline

Learn

Electronic Genome Mapping

Learn

Sample Prep Kit

Learn

Nabsys provides comprehensive software and analytics solutions designed to streamline electronic genome mapping (EGM) workflows. Our cutting-edge platform delivers high-quality data acquisition, targeted analysis and genome-wide structural variant (SV) discovery.

OhmX Analytical Pipeline

OhmX Software

How It Works

Key Benefits

SV-Verify

How It Works:

Verification of Structural Variants in Tumor Cells using EGM

How to Determine Candidate SVs with SV-Verify

Key Benefits:

Performance:

Human Chromosome Explorer (HCE)

Boston Children's Hospital Case Study

De Novo SV Discovery using HCE

Key Benefits:

The Assembly Viewer

The Results Summary View

The Alignment Viewer

HCE’s Circos Plot

Curious about your genome region? Let OhmX analyze it.

Security

Explore the EGM Pipeline

Electronic Genome Mapping

Sample Prep Kit

Nanodetectors