Next generation sequencing for neurological diseases: new hope or new hype?

Clin Neurol Neurosurg. 2013 Jul;115(7):948-53. doi: 10.1016/j.clineuro.2012.09.030. Epub 2012 Nov 30.


Over the past year huge advances have been made in our ability to determine the genetic aetiology of many neurological diseases through the utilisation of next generation sequencing platforms. This technology is, on a daily basis, providing new breakthroughs in neurological disease. The aim of this article is to clearly describe the technological platforms, methods of data analysis, established breakthroughs, and potential future clinical and research applications of this innovative and exciting technique which has relevance to all those working within clinical neuroscience.

Publication types

  • Review

MeSH terms

  • Data Interpretation, Statistical
  • Exome / genetics
  • Genomics / methods
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation / genetics
  • Mutation / physiology
  • Nervous System Diseases / genetics*
  • Sequence Analysis, DNA / trends*