Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice

Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Giovanna De Michele, Melissa Barghigiani, Ettore Cioffi, Alessandro Filla, Giusi Bilancieri, Carlo Casali, Filippo M. Santorelli, Gabriella Silvestri, Alessandra Tessa

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

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.
Lingua originaleEnglish
pagine (da-a)147-160
Numero di pagine14
RivistaNeurogenetics
Volume24
DOI
Stato di pubblicazionePubblicato - 2023

Keywords

  • Hereditary spastic paraplegia (HSP)
  • Multigene panel
  • Whole-genome sequencing (WGS)
  • Targeted resequencing panel (TRP)
  • Whole-exome sequencing (WES)
  • Next-generation sequencing (NGS)

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