Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

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Authors

Ugo Sorrentino · Helmholtz Zentrum München

Martin Pavlov · Helmholtz Zentrum München

Nazanin Mirza‐Schreiber · Helmholtz Zentrum München

Melanie Brügger · Centre for Biomedical Network Research on Rare Diseases

Theresa Brunet · Centre for Biomedical Network Research on Rare Diseases

Eugenia Tsoma · Charles University

Alice Saparov

Abstract

ONT-based LRS uniquely improves analysis of dystonia-associated variations that had not previously been resolved by SRS, implying broad utility for future exploration of the molecular origins of the condition. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Topics & Keywords

Genomics and Rare Diseases RNA modifications and cancer Genomics and Phylogenetic Studies

Publication Details

Published in: Movement Disorders

Volume 41, Issue 1, pp. 70-83

DOI: 10.1002/mds.70072

Field-Weighted Citation Impact: 3.54

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Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Authors

Abstract

Topics & Keywords

Publication Details