ABOVE: Fluorescently labeled DNA used to create an optical genome map
COURTESY OF BIONANO GENOMICS
Genome maps provide an overall view of major variations in a person’s chromosomes, such as big insertions or deletions or the 180-degree flipping of sequences. Some of these structural variants are associated with genetic predispositions to diseases. For instance, many blood cancers are linked to chromosomal rearrangements in which parts of a chromosome break and then attach to another chromosome.
Maps of those rearrangements and other structural variations in chromosomes are currently derived from a multitude of tests, but according to the authors of a pair of studies published online July 7 in the American Journal of Human Genetics, only one is needed: a method known as optical genome mapping. This technique uses fluorescence microscopy to visualize the structure of DNA molecules, which in aggregate provides an overall map of a genome’s structure. In their studies, ...
