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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