The Genoox integrated OM/SV platform

In partnership with Bionano Genomics

Resolve large structural variations (SVs) by combining optical mapping (OM) data and next-generation sequencing (NGS)

 

ONE INTEGRATED SOLUTION MERGING NGS DATA AND OM-BASED SV CALLS

Introducing Genoox’s integrated SV platform, a holistic solution for optimizing detection and interpretation of large SVs by combining optical genome mapping with NGS data, delivering unprecedented sensitivity and specificity.

SIMPLE PROCESS

Single DNA sample is used for Bionano optical mapping (OM) and NGS sequencing
The joint pipeline for SV detection integrates NGS raw data with OM-based SV calls
Evidences from both technologies are used simultaneously to provide increased breakpoint accuracy and confidence
 
 
Selected variants are reported automatically
Detected SVs and SNPs are illustrated on the Genoox integrated SV platform and ready for interpretation
Bionano’s OM data is used to create a graph for Genoox’s novel graph aligner

PLATFORM BENEFITS

Optimize large SV detection by combining OM and NGS dat
Increase sensitivity and specificity of SV detection
Combine all processes using a single integrated platform
Instantly generate reports using the Automated Report Wizard

VALIDATION STUDY: Validated using the 1000 Genomes Project (1k Genomes) high confidence variant calls (variants >500bps, ≥70% reciprocal overlap between 1k Genomes variants and Bionano OM variants and Genoox caller variants). Variants >500bps and with Bionano confidence score ≥0.5 included.

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