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Genetic Disease

Detect structural variations, unbiased and genome-wide with Bionano optical genome mapping 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 optical genome mapping reveals SVs with up to 99% sensitivity, even at allele fractions as low as 1%, which is not possible using other genomics technology.

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


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