Recent advances in the detection of repeat expansions with short-read next-generation sequencing [version 1; referees: 3 approved]

Cited by papers we hold 4

• Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts · 2022
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• Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study · 2022
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• Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS · 2019
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• Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 · 2019
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