Whole-genome analysis and de novo assemblies using only short read data are generally incomplete and highly fragmented due to the intractable complexity found in most genomes. This complexity, consisting mainly of large duplications and repetitive regions, hinders sequence assembly and subsequent comparative analyses. The Irys platform from BioNano Genomics overcomes the limitations of short fragment technologies, to provide unprecedented insights into whole-genome biology. Irys is a single-molecule genome analysis system based on NanoChannel Array technology that linearizes extremely long DNA molecules for observation. This high-throughput platform automates massively parallel imaging of individual molecules of genomic DNA hundreds of kilobases in size to measure sufficient sequence uniqueness and long-range contiguity critical for unambiguous de novo assembly of complex genomes. High-resolution genome maps assembled de novo retain the original context and architecture of the genome, making them extremely useful for sequence assembly scaffolding and structural variation detection applications. Specifically, these genome maps provide dense genome-wide anchor points for ordering and orienting sequencing contigs or scaffolds to greatly increase completion and accuracy of de novo assemblies. Structural variants and repeats are measured directly within long “reads” for comprehensive analysis of what has been dubbed “the inaccessible genome”. Following an introduction to the platform and underlying single-molecule technology, several examples of real-world application will demonstrate its use in large complex genomes.
This seminar is part of the Life Sciences Advanced Technology Seminar series, sponsored by the Cornell University Biotechnology Resource Center.
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