Bionano Genomics Inversion Detection Algorithms

Bionano Genomics has released updated algorithms, analysis tools, and visualization software for the genome-wide detection of inversions. Previous releases have focused on the automated calling of large insertions, deletions, and translocations. Bionano said its genome mapping platform Saphyr detects 90 percent of heterozygous insertions and deletions larger than 1 kilobase pairs and 98 percent of all translocations. The new release focuses on mapping the order and orientation of the genome by greatly improving the ability to identify inversions of 30 kbp up to megabases in size. The new algorithms have 98 percent sensitivity to pick up inversions larger than 50 kbp throughout the genome. All of Bionano's structural variants are reported in dbVar-compliant VCF format.