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Saphyr Instrument


STRUCTURAL VARIATION DISCOVERY PLATFORM

Resolve large-scale structural variations missed by next-generation sequencing (NGS) systems.
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Saphyr™, Bionano’s third-generation optical mapping solution, provides what’s missing in genome research – rapid, high-throughput, long-range genome mapping with unmatched structural variation discovery capabilities.

Large structural variations are responsible for many diseases and conditions, including cancers and developmental disorders. Saphyr detects structural variations ranging from 1,000 bp to megabase pairs in length and offers assembly and discovery algorithms that far outperform sequencing-based technologies in sensitivity.

  • 99% sensitivity for large homozygous insertions/deletions
  • 87% sensitivity for large heterozygous insertions/deletions
  • 98% sensitivity for translocations

Saphyr provides this performance with a false positive rate of less than 3%. Saphyr also calls inversions, repeats, copy number variants and complex rearrangements.