Next-generation sequencing and bioinformatics in rare movement disorders

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 informat...

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Vydáno v:Nature reviews. Neurology Ročník 20; číslo 2; s. 114 - 126
Hlavní autoři: Zech, Michael, Winkelmann, Juliane
Médium: Journal Article
Jazyk:angličtina
Vydáno: England Nature Publishing Group 01.02.2024
Témata:
Bioinformatics
Computational Biology - methods
Genomics - methods
High-Throughput Nucleotide Sequencing - methods
Humans
Movement disorders
Movement Disorders - diagnosis
Movement Disorders - genetics
Proteomics
Rare Diseases
Whole genome sequencing
ISSN:1759-4758, 1759-4766, 1759-4766
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Shrnutí: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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ISSN:1759-4758
1759-4766
1759-4766
DOI:10.1038/s41582-023-00909-9