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Achieving high-quality de novo human genome assemblies with Irys System from BioNano Genomics

May 23, 2016

Dr. Pui Kwok and colleagues at University of California in San Francisco’s Cardiovascular Research Institute/Institute for Human Genetics and researchers at the University of Cape Town’s Department of Molecular and Cell Biology used BioNano’s Irys System to build physical maps of the genome in which long-range information spanning complex regions such as repeats and other structural variations is intact. They integrated the maps with sequence assemblies based on Illumina short-read sequencing and library preparation from 10X Genomics for linked-reads. This combination of NGM, linked-reads and Illumina-based sequencing, similar to the combination of PacBio sequencing and NGM, overcomes limitations of NGS alone.

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Related technologies: Genome mapping

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BioNano Genomics

A revolutionary NanoChannel technology for Genome mapping of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias.

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Genome maps of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias

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