- 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.