Early genomic research began with the pursuit of a physical genome map, a tool that allowed researchers to directly view the positions and associations of genomic events across large segments of a genome. The cost and time required to generate physical maps were prohibitive, and the industry evolved.
Next-generation sequencing (NGS) emerged as the de facto genetic research tool. While NGS has enabled significant discoveries, its short reads cannot effectively resolve the massive repeat segments and structural variations in genomes, leaving large holes in the genetic puzzle.
Retaining long-range contiguity throughout the genome mapping process is critical for any comprehensive study of genome structure and function, in particular de novo sequence scaffolding and analysis of structural variation in complex genomes.
The Irys System brings the power of optical genome mapping. BioNano optical maps provide dense genome-wide anchor points for ordering and orienting sequencing contigs or scaffolds to greatly increase completion and accuracy of de novo assemblies. Structural variants and repeats are measured directly within long, single-molecule "reads" for comprehensive analysis of what has been dubbed "the inaccessible genome."
If an experiment doesn't call for single-base resolution, Irys Genome Maps can be used alone to identify architecture and structural variation. Repeating elements (simple or complex) can be tracked throughout a genome map. Comparing two individuals' genome maps, or an individual to a reference, will highlight structural and copy number variation. Positional information retained by long-range contiguity permits accurate quantitation of amplifications, detection of inversions, balanced translocations and the insertion location of duplications.