Optical Genome Mapping Works Well in Detecting Cancer Risk

The relatively new technique for visually detecting chromosomal variants associated with disease risk performs at least as well as more established techniques in two recent studies.

marcus a. banks
| 3 min read
streaks of blue and green from a fluorescent chromosome mapping technique

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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, ...

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Meet the Author

  • marcus a. banks

    Marcus A. Banks

    Marcus is a science and health journalist based in New York City. He graduated from the Science Health and Environmental Reporting Program at New York University in 2019, and earned a master’s in Library and Information Science from Dominican University in 2002. He’s written for Slate, Undark, Spectrum, and Cancer Today.

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