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- New Technology Seminar
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- BioNano Genomics:
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- de novo Genome Mapping using single molecules
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- Structural Variation detection in complex genomes, genome assembly and
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- Applications:
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- improvement, strain identification
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- Tom Kelly, Regional Business Manager,
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- BioNano Genomics
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- Presented By:
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- Abstract:
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- We present a single-molecule imaging system (Irys) based on NanoChannel Array
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- technology that linearizes extremely long DNA molecules for direct observation of the
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- long-range architectural and organizational information contained within all manners of
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- complex genomes. This highly complimentary, orthogonal data type can be used elucidate
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- complicated rearrangement events, scaffold and orient short-read NGS contigs for
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- assembly validation, resolve complex repetitive regions, and has the potential to discern
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- structural differences between microbial samples that assist in strain identification.
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- By automating the imaging of single molecules of genomic DNA, hundreds of kilobases
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- to multi megabases in size, the Irys is able to build de novo consensus genome maps
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- that support a multitude of applications across the spectrum of clinical and translational
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- research. In addition to describing the technology and analysis approaches useful for
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- dissecting complex genomes, we will demonstrate results from several genomes, where
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- genome maps span remaining reference gaps, identify known and novel structural variants
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- (including balanced rearrangements) and phase variation within haplotype blocks.
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