The Bionano Genome Imaging workflow starts with mega-base size DNA isolation. A single enzymatic reaction labels the genome at a specific sequence motif occurring approximately 15 times per 100 kbp in the human genome. The long, labeled DNA molecules are linearized in nanochannel arrays on a Saphyr chip® and imaged in an extremely high throughput, automated manner by the Saphyr® Instrument. Using pairwise alignments, the molecules are assembled into local maps or whole genome de novo assemblies. Changes in patterning or spacing of the labels are detected automatically, genome wide, to call all structural variants.
- Discovery Research /
- Genetic Diseases
Detect structural variations, unbiased and genome-wide with Bionano Genome Imaging at high sensitivities and extremely low false positive rates. Discover the variants that are missed by short and long read sequencing with one powerful workflow.
Bionano finds the variants NGS can’t see
Structural variants (SVs) make up the majority of human genomic variation, driving genetic diversity but contributing to genetic diseases. SVs are frequently flanked by repetitive sequences which are challenging or impossible for current sequencing technologies to decipher. Bionano Genome Imaging reveals SVs with up to 99% sensitivity, even at allele fractions as low as 1%, which is not possible using other genomics technology.