Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Hereditary spastic paraplegia (HSP)
Multigene panel
Next-generation sequencing (NGS)
Targeted resequencing panel (TRP)
Whole-exome sequencing (WES)
Whole-genome sequencing (WGS)
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
received:
13
10
2022
accepted:
24
04
2023
medline:
6
7
2023
pubmed:
3
5
2023
entrez:
2
5
2023
Statut:
ppublish
Résumé
Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological disorders mainly characterized by corticospinal degeneration (pure forms), but sometimes associated with additional neurological and extrapyramidal features (complex HSP). The advent of next-generation sequencing (NGS) has led to huge improvements in knowledge of HSP genetics and made it possible to clarify the genetic etiology of hundreds of "cold cases," accelerating the process of reaching a molecular diagnosis. The different NGS-based strategies currently employed as first-tier approaches most commonly involve the use of targeted resequencing panels and exome sequencing, whereas genome sequencing remains a second-tier approach because of its high costs. The question of which approach is the best is still widely debated, and many factors affect the choice. Here, we aim to analyze the diagnostic power of different NGS techniques applied in HSP, by reviewing 38 selected studies in which different strategies were applied in different-sized cohorts of patients with genetically uncharacterized HSP.
Identifiants
pubmed: 37131039
doi: 10.1007/s10048-023-00717-9
pii: 10.1007/s10048-023-00717-9
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
147-160Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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