Genetics: Clinical exome sequencing in neurology practice

Nat Rev Neurol. 2014 Dec;10(12):676-8. doi: 10.1038/nrneurol.2014.213. Epub 2014 Nov 4.

Abstract

Clinical exome sequencing (CES) is becoming a standard tool for molecular diagnosis of genetic disorders, with a diagnostic yield of approximately 25%. New studies demonstrate the favourable diagnostic yield of CES for both early-onset and adult-onset neurogenetic disorders.These studies demonstrate the strengths, limitations and potential of CES in neurology practice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome*
  • Genetic Testing / economics
  • Genetic Testing / ethics
  • Genetic Testing / methods*
  • Humans
  • Molecular Diagnostic Techniques / economics
  • Molecular Diagnostic Techniques / ethics
  • Molecular Diagnostic Techniques / methods*
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / genetics
  • Neurology / economics
  • Neurology / ethics
  • Neurology / methods*
  • Sequence Analysis / economics
  • Sequence Analysis / ethics
  • Sequence Analysis / methods*