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Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies

8 Apr 2024

Abstract excerpt

Tandem repeats are a common, highly polymorphic class of variation in human genomes. Their expansion beyond a pathogenic threshold is a process that contributes to a wide range of neurological and neuromuscular genetic disorders, of which over 60 have been identified to date. The last few years have seen a resurgence in repeat expansion discovery propelled by technological advancements, enabling the...

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PMID: 38594146
DOI: 10.1016/j.neurol.2024.03.005

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