Structural Variation Detection and Analysis Using Bionano Optical Mapping

Structural Variation Detection and Analysis Using Bionano Optical Mapping

The need to accurately identify the complete structural variation profile of genomes is becoming increasingly evident. In contrast to reference-based methods like sequencing or comparative methods like aCGH, optical mapping is a de novo assembly-based method that enables better realization of true g...

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Bibliographic Details
Published in:Methods in molecular biology (Clifton, N.J.) Vol. 1833; p. 193
Main Authors: Chan, Saki, Lam, Ernest, Saghbini, Michael, Bocklandt, Sven, Hastie, Alex, Cao, Han, Holmlin, Erik, Borodkin, Mark
Format: Journal Article
Language:English
Published: United States 01-01-2018
Subjects:
Alleles
Chromosome Mapping - methods
Genetic Variation
Genome, Human
Humans
Sequence Analysis, DNA - methods
Translocation
Genome structure
Long reads
Genomics
Deletion
Insertion
Inversion
Optical mapping
Structural Variation
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Summary:The need to accurately identify the complete structural variation profile of genomes is becoming increasingly evident. In contrast to reference-based methods like sequencing or comparative methods like aCGH, optical mapping is a de novo assembly-based method that enables better realization of true genomic structure. It allows for independently detecting balanced and unbalanced structural variants (SVs) from separate alleles and for discovering de novo events. Here we show how Bionano Genome Mapping creates de novo assemblies from native and intact, megabase-scale DNA molecules and uses those assemblies to detect a wide range of structural variants.
ISSN:1940-6029
DOI:10.1007/978-1-4939-8666-8_16