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$BNGO STRUCTURAL VARIATION DISCOVERY PLATFORM
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.

https://bionanogenomics.com/products/saphyr/