Saphyr

Resolve large-scale structural variations missed by next-generation sequencing (NGS) systems

Large structural variations are responsible for many diseases and conditions, including cancers and developmental disorders. Saphyr detects structural variations ranging from 500 bp to megabase pairs in length and offers assembly and discovery algorithms that far outperform sequencing-based technologies in sensitivity.

  • 99% sensitivity for homozygous insertions/deletions larger than 500 base pairs
  • 95% sensitivity for heterozygous insertions/deletions larger than 500 base pairs
  • 95% sensitivity for balanced and unbalanced translocations larger than 50,000 base pairs
  • 99% sensitivity for inversions larger than 30,000 base pairs
  • 97% sensitivity for duplications larger than 30,000 base pairs
  • 97% sensitivity for copy number variants larger than 500,000 base pairs

For mosaic samples or heterogeneous cancer samples, Saphyr detects all types of structural variants down to 5% Variant Allele Fraction.  Saphyr provides this performance typically with a false positive rate of less than 2%. Saphyr also calls repeats and complex rearrangements.

Enhanced Speed and Throughput

Rapid optical mapping ideal for human research applications

Saphyr features enhanced optics with adaptive loading of DNA utilizing machine learning. The Saphyr Instrument and high-capacity Saphyr Chip® combine to deliver genome maps at the speed and scale your research demands.

  • Long molecules from 150,000 bp to multi-megabase pairs
  • 3900 Gbp throughput per Saphyr Chip for human samples for deep structural variant discovery (1300 Gbp per flowcell of molecules larger than 150 kbp)
  • Sample to structural variation call or genome scaffolding in as little as 5 days