The Bionano Genomics Saphyr® System is a genome imaging platform for rapid, high-throughput structural variant analysis with high sensitivity and specificity. Optical genome mapping (OGM) detects copy number changes (CNV), structural changes (inversions, insertions and deletions), aneuploidies and chromosomal rearrangements (translocations) even at low mosaic rates. In addition, OGM and traditional cytogenetic analyzes are combined in a single workflow. World-class studies confirm Bionano's performance. Bionano, 2 separate studies conducted in "American Journal of Human Genetics" in July 2021; found all variants detected by karyotyping, FISH, and microarray studies, and also detected variants missed by other methods.
This technology; It is used in the diagnosis of rare undiagnosed genetic diseases and repetitive diseases (FSHD, Fragile X, etc.) that cannot be detected by other methods. It is an effective method in the diagnosis, prognosis and treatment of hematological and solid cancers. It is also used in the creation of gene discovery and therapies, evaluation of cell line stability, genetic engineering research and obtaining new reference genomes.
Bionano Saphyr chips use hundreds of thousands of parallel nanochannels that linearize long, labeled DNA molecules allowing direct imaging of your samples in the Saphyr instrument. Saphyr Chip's nanochannels allow only a single linearized DNA molecule to pass, while preventing the molecule from entangling or folding over on itself. This nanofluidic environment allows molecules to move rapidly over hundreds of thousands of parallel nanochannels simultaneously, making it possible to create an accurate Bionano genome map.
The Saphyr System displays ultra-long, linearized DNA molecules labeled in specific sequence motifs. Comparative analysis of tag patterns over long contiguous reads across the entire genome detects false positive rates of less than 2% and structural variants (> 500 bp) at sensitivities of up to 99%.