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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Veröffentlicht in:	Nature reviews. Neurology Jg. 20; H. 2; S. 114 - 126
Hauptverfasser:	Zech, Michael, Winkelmann, Juliane
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England Nature Publishing Group 01.02.2024
Schlagworte:	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
Online-Zugang:	Volltext
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