Breaks in the genome
New method to improve the diagnosis of genetic diseases
28-Jul-2020 -
Breaks and rearrangements in the genome can lead to severe diseases, even if all genes remain intact. Hi-C, a method to map the three-dimensional structure of chromosomes, promises more reliable and accurate diagnoses of such defects, but is not used in the clinic yet. A team of researchers at ...
chromosomes
developmental disorder
diagnostics
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