Rapidly identify genome variation with the high-throughput Saphyr system. Detect large-scale structural variations for genetic disease, cancer, cytogenomics
Reveal what is missing in your research with optical genome mapping using BioNano Genomics Saphyr. Rapidly identify genome variation like never before with the high-throughput Saphyr system. Detect large-scale structural variations for genetic disease, cancer, and cytogenomics.
Find Variants Other Technologies Can’t See with Optical Genome Mapping
The Bionano Saphyr System detects structural variations in an unbiased manner at much higher sensitivities than sequencing-based technologies, and routinely at 5% variant allele fraction.
The Saphyr System is ideal for:
- Consolidating traditional cytogenetic methods into a single workflow
- Unbiased genome-wide structural variant detection
- Finding variation missed by sequencing-based methods
Structural variation discovery platform
Resolve large-scale structural variations missed by next-generation sequencing (NGS) systems.
Large structural variations are responsible for many diseases and conditions, including cancers and developmental disorders. Optical genome mapping with Saphyr detects structural variations ranging from 500 bp to megabase pairs in length and offers assembly and discovery algorithms that far outperform sequencing-based technologies in sensitivity.
For mosaic samples or heterogeneous cancer samples, Saphyr detects all types of structural variants down to 1% variant allele fraction. Saphyr provides this performance typically with a false positive rate of less than 2%. Saphyr also calls repeats and complex rearrangements.
Optical genome mapping provides enhanced speed and throughput
Rapid optical genome mapping using whole genome imaging for human research applications.
Saphyr features enhanced optics with adaptive loading of DNA utilizing machine learning. The Saphyr Instrument and high-capacity Saphyr Chip® combine to deliver genome maps at the speed and scale your research demands.
- Long molecules from 150,000 bp to multi-megabase pairs
- 15 Tbp output per Saphyr Chip for human samples for deep structural variant discovery (5 Tbp per flowcell of molecules larger than 150 kbp)
- Sample to structural variation call or genome scaffolding in as little as 4 days
Simplified workflow
Optical genome mapping automation features and intelligent sample preparation simplify the process
- Saphyr optical genome mapping offers automated features that minimize hands-on time.
- Requires less than 3 minutes hands-on instrument time per chip
- Automatic optimization of run conditions based on sample characteristics maximizes throughput
- Saphyr Chip Clip protects sample integrity and eliminates the need for instrument wash cycles between runs
High speed data collection
Optical genome mapping automation features and intelligent sample preparation simplify the process
Saphyr runs each genome in its own flow cell. Each Saphyr chip holds three flow cells, and 100x coverage of 3 human genomes is collected in less than 6 hours. That means 12 human samples at 100x coverage per day, or up to 96 per week.
For cases requiring higher coverage, like mosaic samples or heterogeneous tumors, the run can be extended up to 24 hours to collect as much as 400x coverage of a human genome for each of the three flowcells.
Automated system health monitoring
Remote quality control ensures maximum performance at all time
The Saphyr Assure Service provides an optional (opt-in required) automated health monitoring feature that continuously inspects data quality and instrument performance. Performance issues are detected before data quality and performance are impacted allowing Bionano Support to proactively repair the system with minimal downtime.