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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

Neurodegenerative DiseasesMendelian DisorderWhole Genome SequencingRetrospective Diagnostic AccuracyMedicineGeneticsNeurological DisorderGenetic EpidemiologyNeurologyDisease Gene IdentificationMultiple SclerosisPublic HealthNeuropathologyMolecular DiagnosticsSequencingNeurogenetics