Exome sequencing in Parkinson's disease

Clin Genet. 2011 Aug;80(2):104-9. doi: 10.1111/j.1399-0004.2011.01722.x. Epub 2011 Jun 16.


Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive. In this review, we discuss not only how we envisage exome sequencing being applied to a complex disease, such as Parkinson's disease, but also what are the known caveats of this approach.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Exons / genetics*
  • Genome / genetics*
  • Humans
  • Mutation
  • Parkinson Disease / diagnosis
  • Parkinson Disease / genetics*
  • Sequence Analysis, DNA*