New Technology Seminar

BioNano Genomics: 

de novo Genome Mapping using single molecules

Structural Variation detection in complex genomes, genome assembly and 

Applications: 

improvement, strain identification

Tom Kelly, Regional Business Manager, 

BioNano Genomics

Presented By:

Abstract:

We present a single-molecule imaging system (Irys) based on NanoChannel Array 

technology that linearizes extremely long DNA molecules for direct observation of the 

long-range architectural and organizational information contained within all manners of 

complex genomes. This highly complimentary, orthogonal data type can be used elucidate 

complicated rearrangement events, scaffold and orient short-read NGS contigs for 

assembly validation, resolve complex repetitive regions, and has the potential to discern 

structural differences between microbial samples that assist in strain identification. 



By automating the imaging of single molecules of genomic DNA, hundreds of kilobases 

to multi megabases in size, the Irys is able to build de novo consensus genome maps 

that support a multitude of applications across the spectrum of clinical and translational 

research. In addition to describing the technology and analysis approaches useful for 

dissecting complex genomes, we will demonstrate results from several genomes, where 

genome maps span remaining reference gaps, identify known and novel structural variants 

(including balanced rearrangements) and phase variation within haplotype blocks.