Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

Nat Rev Neurosci. 2012 Jun 20;13(7):453-64. doi: 10.1038/nrn3271.


Over the past five years the field of neurogenetics has yielded a wealth of data that have facilitated a much greater understanding of the aetiology of many neurological diseases. Most of these advances are a result of improvements in technology that have allowed us to determine whole-genome structure and variation and to examine its impact on phenotype in an unprecedented manner. Genome-wide association studies have provided information on how common genetic variability imparts risk for the development of various complex diseases. Moreover, the identification of rare disease-causing mutations have led to the discovery of novel biochemical pathways that are involved in disease pathogensis. Here, we review these advances and discuss how they have changed the approaches being used to study neurological disorders.

Publication types

  • Review

MeSH terms

  • Animals
  • Exome
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation*
  • Genome-Wide Association Study*
  • Humans
  • Nervous System Diseases* / diagnosis
  • Nervous System Diseases* / etiology
  • Nervous System Diseases* / genetics
  • Sequence Analysis, DNA