Article ; Online: Next-generation sequencing and bioinformatics in rare movement disorders.
2024 Volume 20, Issue 2, Page(s) 114–126
Abstract: 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, ... ...
| Abstract | 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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| MeSH term(s) | Humans ; Proteomics ; Computational Biology/methods ; Genomics/methods ; High-Throughput Nucleotide Sequencing/methods ; Rare Diseases ; Movement Disorders/diagnosis ; Movement Disorders/genetics |
| Language | English |
| Publishing date | 2024-01-03 |
| Publishing country | England |
| Document type | Journal Article ; Review ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2491514-2 |
| ISSN | 1759-4766 ; 1759-4758 |
| ISSN (online) | 1759-4766 |
| ISSN | 1759-4758 |
| DOI | 10.1038/s41582-023-00909-9 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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