PuSH - Publikationsserver des Helmholtz Zentrums München: Long-read sequencing: The third generation of diagnostic testing for dystonia.

Informationen

Hinweise zu Qualitätskriterien von Zeitschriften

Open-Access-Richtlinie der Helmholtz-Gemeinschaft 2016

CC Licencences

Metriken für Publikationen

Navigation

Startseite

English

Recherche

Erweiterte Suche

Durchblättern nach ...

... HMGU-Autoren/Konsortien

... Organisationsstruktur

... Zeitschriften

... Publikationstypen

... Forschungsdaten

... Arbeitsgruppen

... Erscheinungsjahr

Publikationen im Überblick

Statistik

HGF Fortschrittsbericht

OA Publikationen

Eintragen

Neue Publikation eintragen

Neue Publikation holen aus...

...EVA

Fehlende Publikation melden

Highlights

Suche

Hilfe & Kontakt

Ansprechpartner

Hilfe

Datenschutz

Helmholtz Open Science

Bibliometrische Indikatoren

SHERPA/RoMEO

DOAJ

Export:

Text

Endnote (RIS) BIB

BibTeX

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

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

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

Verlagsversion

DOI

PMC

	Open Access Hybrid

Abstract
Metriken
Zusatzinfos

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.

Impact Factor

Scopus SNIP

Altmetric

7.600

0.000