BioNano Genomics, Inc. announced results from a study demonstrating the enhanced ability of single-molecule next-generation mapping (NGM) using BioNano's Irys System to detect and reveal genome-wide large structural variations, including many previously unpublished variants that may have the potential to disrupt gene function or regulation. Results from the study, entitled Genome-wide structural variation detection by genome mapping on nanochannel arrays, were published early online in the peer-reviewed journal Genetics and have been published in the January 5, 2016 issue, which is the first issue of the journal's Centennial year. Led by researchers from four institutions using multiple independent algorithmic analysis methods, the study confirmed that single-molecule and de novo genome maps generated using BioNano's Irys System for the well-studied CEU trio from the 1000 Genomes Project enabled efficient identification and validation of structural variants including insertions, deletions, and inversions greater than 5 kilobase pairs (kbp) in size.

The study detected and manually confirmed seven times more large insertions and deletions than previously found in the 1000 Genome Consortium, which is likely a result of the inability of next-generation sequencing (NGS) to accurately detect large structural variations.