Current Psychiatry Reports

, 15:349

Evaluating Rare Variants in Complex Disorders Using Next-Generation Sequencing

Genetic Disorders (JF Cubells and EB Binder, Section Editors)

DOI: 10.1007/s11920-013-0349-4

Cite this article as:
Ezewudo, M. & Zwick, M.E. Curr Psychiatry Rep (2013) 15: 349. doi:10.1007/s11920-013-0349-4
Part of the following topical collections:
  1. Topical Collection on Genetic Disorders

Abstract

Determining the genetic architecture of liability for complex neuropsychiatric disorders like autism spectrum disorders and schizophrenia poses a tremendous challenge for contemporary biomedical research. Here we discuss how genetic studies first tested, and rejected, the hypothesis that common variants with large effects account for the prevalence of these disorders. We then explore how the discovery of structural variation has contributed to our understanding of the etiology of these disorders. The rise of fast and inexpensive oligonucleotide sequencing and methods of targeted enrichment and their influence on the search for rare genetic variation contributing to complex neuropsychiatric disorders is the next focus of our article. Finally, we consider the technical challenges and future prospects for the use of next-generation sequencing to reveal the complex genetic architecture of complex neuropsychiatric disorders in both research and the clinical settings.

Keywords

Human geneticsGenomicsGenetic architectureComplex traitsNext-generation sequencingTargeted enrichmentSingle nucleotide variantsSNVsSingle nucleotide polymorphismsSNPsStructural variationCopy number variantsCNVsComplex neuropsychiatric disordersSchizophreniaAutismGenetic disordersPsychiatry

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Department of Human GeneticsEmory UniversityAtlantaUSA