Structurally complex loci underlie many diseases and can be challenging to resolve using currently available methods such as karyotyping, clinical array, PCR-based tests, and next-generation sequencing alone. BioNano Genomics Next-Generation Mapping (NGM) uses proprietary optical mapping and NanoChannel array technology to provide a high-throughput, genome-wide method able to interrogate large structural differences (> 1kbp) in the genome and increase the contiguity and accuracy needed to produce platinum quality genome assemblies.
Generating a Irys Genome map begins with the labeling of long, megabase size DNA molecules at specific sequence motifs to generate a unique barcode-like pattern. The labeled DNA is processed using NanoChannel array technology that unravels, sorts, and confines native-state genomic DNA fragments in a linearized conformation. Multiple DNA molecules are optically imaged and digitized to create optical maps. These long molecules, spanning beyond a field of view, are stitched together and provide genetic information about molecular organization. Inconsistent features can reflect sites of DNA damage, translocations, tandem repeats, duplications and deletions, epigenetic markers, or other functional biological events.
Structural Variation Analysis
Irys Genome maps can be used for the analysis of large structural variation (SV) events greater than 1kbp. 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.
Structural variants and repeats are measured directly within long, single-molecule “reads” for comprehensive analysis of what has been dubbed “the inaccessible genome.”
Irys Genome maps provide dense genome-wide anchor points for ordering and orienting sequencing contigs or scaffolds to significantly increase the completion and accuracy of de novo assemblies.