Article
Structural Variation Detection and Analysis Using Bionano Optical Mapping.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2018
Chan Saki, Lam Ernest, Saghbini Michael, Bocklandt Sven, Hastie Alex, Cao Han, Holmlin Erik, Borodkin Mark
Abstract excerpt
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...
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