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. Saphyr detects structural variations ranging from 1,000 bp to megabase pairs in length and offers assembly and discovery algorithms that far outperform sequencing-based technologies in sensitivity.
- 99% sensitivity for large homozygous insertions/deletions
- 87% sensitivity for large heterozygous insertions/deletions
- 98% sensitivity for translocations
Saphyr provides this performance with a false positive rate of less than 3%. Saphyr also calls inversions, repeats, copy number variants and complex rearrangements.
Enhanced Speed and Throughput
Rapid optical mapping ideal 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 100,000 bp to megabase pairs
- Guaranteed 640 Gbp throughput per Saphyr Chip per day for human samples for deep structural variant discovery (320 Gbp per flowcell of molecules larger than 150 kbp)
- Sample to structural variation call or genome scaffolding in as little as 5 days
Automation features and intelligent sample preparation simplify the process
Saphyr offers automated features that minimize hands-on time, while upgradable components ensure Saphyr delivers value over the long term.
- 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
- Near-hermetically-sealed carousel auto-loads up to 12 Saphyr Chips (coming late 2017)
Flexible Mapping Options
High throughput and lower cost per sample allow for a wide range of experiment design options
Generate high-resolution physical genome maps with greater speed and coverage at a lower cost. Saphyr can run most genomes in a single flowcell, in just one day. With Saphyr Chip’s dual-flowcell design, you have the power to generate two independent maps from one sample, with two enzymes, and combine the data.
- Call homozygous and heterozygous structural variants with greater sensitivity and precision compared to single-enzyme variant calls
- Improve contiguity of sequence assemblies even more than with single enzyme scaffolding
- Use the two maps generated per chip to correct assembly errors with greater accuracy
Intelligent Data Solutions
Automate data analysis—monitor and manage the Saphyr Instrument remotely
The Bionano suite of hardware and software for Saphyr streamlines your workflow and reduces time to result. Learn more about Bionano Data Solutions.
Sample Prep Kits
Extract high molecular weight DNA for human, plant and animal genome mapping
Bionano reagent kits supplement readily available enzymes, with all the enzymes, dyes and buffers you need to label non-amplified DNA for Saphyr. Controls for validating the labeling biochemistry are also provided. Contact us for more information about Bionano prep kits.