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Genetic Disease

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. Discover the variants missed by short- and long-read sequencing with one powerful workflow.

OGM 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. OGM reveals SVs with up to 99% sensitivity and detects mosaic variants down to as little as 5% variant allele fraction.

Our tools and platforms provide unparalleled structural variation detection for genetic disease research.


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