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Zech, M. ; Winkelmann, J.

Next-generation sequencing and bioinformatics in rare movement disorders.

Nat. Rev. Neurol. 20, 114–126 (2024)
Postprint DOI PMC
Open Access Green
The ability to sequence entire exomes and genomes has revolutionized molecular testing in rare movement disorders, and genomic sequencing is becoming an integral part of routine diagnostic workflows for these heterogeneous conditions. However, interpretation of the extensive genomic variant information that is being generated presents substantial challenges. In this Perspective, we outline multidimensional strategies for genetic diagnosis in patients with rare movement disorders. We examine bioinformatics tools and computational metrics that have been developed to facilitate accurate prioritization of disease-causing variants. Additionally, we highlight community-driven data-sharing and case-matchmaking platforms, which are designed to foster the discovery of new genotype-phenotype relationships. Finally, we consider how multiomic data integration might optimize diagnostic success by combining genomic, epigenetic, transcriptomic and/or proteomic profiling to enable a more holistic evaluation of variant effects. Together, the approaches that we discuss offer pathways to the improved understanding of the genetic basis of rare movement disorders.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Mutation Database; Variants; Disease; Genome; Phenotype; Diagnosis; Association; Genetics; Hotspots; Archive
Sprache englisch
Veröffentlichungsjahr 2024
HGF-Berichtsjahr 2024
ISSN (print) / ISBN 1759-4758
e-ISSN 1759-4766
Zeitschrift Nature Reviews. Neurology
Quellenangaben Band: 20, Heft: , Seiten: 114–126 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort Heidelberger Platz 3, Berlin, 14197, Germany
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
Förderungen
European Joint Programme on Rare Diseases
German Federal Ministry of Education and Research (BMBF, Bonn, Germany)
Federal Ministry of Education and Research (BMBF)
Free State of Bavaria under the Excellence Strategy of the Federal Government and the Laender
Scientific Advisory Council of the Dystonia Medical Research Foundation
Else Kroner-Fresenius-Stiftung
German Research Foundation
DOI 10.1038/s41582-023-00909-9
WOS ID 001135839300001
Scopus ID 85181238591
PubMed ID 38172289
Erfassungsdatum 2024-01-07
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