The genome map provides an overall view of the major variations of an individual's chromosomes, such as large insertions, deletions, or 180-degree flips of sequences
At present, the maps of these chromosomal reorganizations and other structural variations come from a large number of tests, but according to two studies published online recently in the American Journal of Human Genetics, only one method is needed: a method called optical genome mapping
"We have proved that the (Optical Genome Atlas) technology can faithfully detect known aberrations,
Alexander Hoischen, a geneticist at Radboud University Medical Center in the Netherlands who collaborated with El-Khattabi, said that one of the attractions of optical genome mapping is that the old technology requires specialized training and expertise, especially a kind of karyotyping.
"Karyotype analysis is almost an art
One of the studies was led by Hoischen and El-Khattabi.
Another research led by Hoischen focused on chromosomal aberrations associated with blood cancers such as acute myeloid leukemia
"I hope that more and more groups will follow us to prove that it works like this
Rashmi Kanagal-Shamanna is a pathologist diagnosed with blood cancer at the MD Anderson Cancer Center in Houston.
However, she pointed out that standard karyotyping methods provide useful diagnostic information at a reasonable cost and have been widely used in the diagnosis of blood cancer
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