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
On-line přístup:	Získat plný text
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