HTSF Genomics Seminar: Illuminating the Dark Matter

De Novo Assembly and Mapping of the Structural Variation of the Genome

When Nov 29, 2016
from 12:00 PM to 01:30 PM
Where Bondurant Hall, room 2030
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Join us for this free seminar

Speaker: Sven Bocklandt, PhD, BioNano Genomics

Lunch Provided with RSVP to:

The majority of complex genomes are made up
of repetitive and regulatory elements, yet our current analysis of the genome often focuses only on single nucleotide changes and exome sequencing. The "Dark Matter" that controls most genomes is largely ignored, because short read sequencing is unable to resolve these highly repetitive or complex sequences.

BioNano Genomics’ Irys instruments use proprietary nanochannel arrays to linearize and image Kbp-Mbp sized single DNA molecules. This extremely long molecule data is used to help elucidate genome-wide complex structural variation like balanced/unbalanced translocations, inversions, and large indels.  BioNano de novo genome maps identify and phase CNVs, resolve complex repetitive regions, scaffold short and long-read NGS contigs to create better-than-reference assemblies, and resolve complex repetitive regions.

Applications range from bacterial engineering to building reference genomes for complex polyploid plants all the way to clinical use.  This talk will also touch on peripheral applications such as long range phasing of methylation patterns, and analysis of chromatin structure.