New research indicates that next-generation sequencing (NGS) can improve the diagnostic yield in a highly selected group of patients with ataxia, following comprehensive exclusion work-up of other causes. However, routine practical application of NGS will depend on refinement of current technologies to facilitate data interpretation, and cost-effectiveness analysis in different patient groups.
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The author acknowledges support from the National Medical Research Council, Singapore Millennium Foundation and Duke-NUS Graduate Medical School.
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Tan, EK. Utility of next-generation sequencing in ataxias. Nat Rev Neurol 9, 614–615 (2013). https://doi.org/10.1038/nrneurol.2013.212
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DOI: https://doi.org/10.1038/nrneurol.2013.212
