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Solved with Bionano: The Swedish mystery of the missing reference sequence

Apr 27, 2018

The human genome is the most studied and best characterized of all genomes by far. A good reference provides a generally accepted standard against which the genetic code of every individual human being can be compared. The most recent build of this reference is called GRCh38, and is greatly improved over its predecessor version 19, in part thanks to Bionano data. Bionano’s de novo genome maps allowed for the correction of errors in order and orientation in reference hg19. Yet this reference is unfinished, and doesn’t completely reflect the diversity found in human genomes across the globe. For example, 12.8 megabasepairs (Mbp) of novel sequences not in GRCh38 were detected in the Chinese HX1 assembly, which was built using Bionano map as well.

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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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