New diagnostics technique detects ‘undetectable’ genetic defects

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New diagnostics technique detects ‘undetectable’ genetic defects

Detecting hidden genetic defects by applying an existing method to an existing datasets. Researchers at Radboud university medical center have succeeded: they showed that the ‘Expansion Hunter’ method can detect errors in the DNA that lead to repeat expansion diseases, such as the movement disorder ataxia. This result provides guidance to fellow researchers worldwide on how to use this method to diagnose patients with genetic disorders.

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