The OGM 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 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.
- Home/
- Clinical Research /
- Cytogenomics
Revolutionizing
Cytogenomics
Detecting broken, missing, rearranged, or extra chromosomes can diagnose disease and define treatment options, but traditional cytogenetic methods have limited resolution and speed. Optical genome mapping (OGM) detects all CNVs, chromosomal aberrations and structural variants and consolidates the traditional cytogenetic assays into one single workflow.
Meet the Saphyr System: Your New Cyto Lab
Optical genome mapping with the Saphyr® System can detect all classes of structural variant at high sensitivities, even those present at low allele fractions in heterogenous cancer samples, in an unbiased genome-wide manner. This modern tool has revolutionized cytogenomics by showing a 100% concordance to traditional methods – array CGH, karyotyping and FISH – in multiple studies. With the Saphyr system, you can easily consolidate 3 assays into 1 to get results in as few as 4 days* with a single streamlined workflow.
