Optical Genome Mapping for Applications in Repeat Expansion Disorders
Bart van der Sanden,
Kornelia Neveling,
Andy Wing Chun Pang
et al.
Abstract:Short tandem repeat (STR) expansions are associated with more than 60 genetic disorders. The size and stability of these expansions correlate with the severity and age of onset of the disease. Therefore, being able to accurately detect the absolute length of STRs is important. Current diagnostic assays include laborious lab experiments, including repeat‐primed PCR and Southern blotting, that still cannot precisely determine the exact length of very long repeat expansions. Optical genome mapping (OGM) is a cost… Show more
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