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 large homozygous insertions/deletions
- 87% sensitivity for large heterozygous insertions/deletions
- 98% sensitivity for translocations
- 98% sensitivity for inversions
Saphyr provides this performance with a false positive rate of less than 3% and calls duplications, repeats, copy number variants and complex rearrangements.