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DNA puzzle uncovers rare chromosome defects

DNA puzzle uncovers rare chromosome defects

In a study led by Anna Lindstrand from the Rare Diseases group, researchers have been able to map three extremely complex chromosome aberrations using puzzle pieces from four different DNA analyses. 

The study, Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements, was published in the scientific journal PLOS Genetics and the goal is to produce a test to be used in the clinic.

Anna Lindstrand

Anna Lindstrand. Photo: Ola Lundström

 

Read more about the study at Karolinska Institutet webbsite.

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