With a 15-fold increase in throughput, the new chip now makes possible the full detection of structural variation present in each human genome and significantly advances the finishing of genome assemblies.

Structural variation can involve millions of nucleotides of heterogeneity within every genome and may be a fundamental key to understanding human diversity and disease.

BioNano Genomics president and CEO Dr Erik Holmlin noted we know of a handful of clinically significant, structural variations, like the Philadelphia chromosome associated with chronic myelogenous leukemia.

"However, before this new chip for the Irys System, we have not had a way to comprehensively study structural variation. Today, researchers can use the Irys System to discover biologically significant patterns in structural variations, which can be relevant for developing new drugs and diagnostics as well as for creating new agriculture and biofuel products," Dr Holmlin added.

Structural variation occurs in all genomes and includes genomic changes, such as deletions, duplications, copy-number variants, insertions, inversions and translocations.

Recent research suggests that 5% of the human genome is defined as structurally variant, involving more than 800 independent genes as well as unknown effects on non-coding areas, which often contain regulatory elements that control gene expression.

By analyzing extremely long stretches of DNA, up to 1 million base pairs, the Irys system is a long-read technology that allows the direct observation of the natural DNA structure to detect the structural variations present in each genome.

The product introduction occurs at the American Society for Human Genetics (ASHG) annual meeting taking place 22 October to 26 October in Boston.