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Wirth, T.* ; Kumar, K.R.* ; Zech, M.

Long-read sequencing: The third generation of diagnostic testing for dystonia.

Mov. Disord. 40, 1009-1019 (2025)

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Long-read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long-read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled accuracies in genetic discovery and long-range phasing. In the field of dystonia, promising results have come from recent pilot studies showing improved detection of disease-causing structural variants and repeat expansions. Increases in throughput and ongoing reductions in cost will facilitate the incorporation of long-read approaches into mainstream diagnostic practice. Although these developments are likely to transform clinical care, there is currently a discrepancy between the potential benefits of long-read sequencing and the application of this technique to dystonia. In this review we highlight current opportunities and limitations of adopting long-read sequencing methods for the investigation of patients with dystonia. We provide examples of long-read sequencing integration into diagnostic evaluation and the study of pathomechanisms in individuals with dystonic disorders. The goal of this article is to stimulate research into the application and optimization of long-read analysis strategies in dystonia, thus enabling more precise understanding of the underlying etiology in the future. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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