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Bionano Genome Mapping: High-Throughput, Ultra-Long Molecule Genome Analysis System for Precision Genome Assembly and Haploid-Resolved Structural Variation Discovery

  • Sven BocklandtEmail author
  • Alex Hastie
  • Han Cao
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1129)

Abstract

Next Generation Sequencing (NGS) has rapidly advanced genomic research with tremendously increased throughput and reduced cost, through reading the fragmented genome content in massively parallel fashion. We have been able to sequence and map genomes to reference sequences with relative ease compared to the past. However, this mapping can only be accurately accomplished in the single copy regions of the genome, leaving out most duplicated genes and structural variation. Additionally, assembly of long genomic segments remains elusive since multi copy regions of the genome produce ambiguity when short read sequence is used.

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Bionano GenomicsSan DiegoUSA

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