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.
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Cancer Genomics: Heme Malignancies and
Solid Tumor Research
To get a complete picture of highly rearranged cancer genomes in heterogeneous samples, you need long-range information at high coverage and analysis tools with high sensitivity and specificity. Bionano optical genome mapping (OGM) routinely collects up to 400x coverage of a human genome to uncover large structural variations beyond what short- and long-read sequencing can see, at 5% variant allele fraction.
Unbiased, Genome-wide SV Detection for Complex Cancer Samples
Cancer samples are too complex for low-coverage whole genome sequencing. Complex rearrangements, tumor heterogeneity and unsequenceable repetitive regions of the genome present additional challenges for short- and long-read sequencing technologies.
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.
