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The genetics of neuropsychiatric diseases: looking in and beyond the exome.

Publication ,  Journal Article
Heinzen, EL; Neale, BM; Traynelis, SF; Allen, AS; Goldstein, DB
Published in: Annu Rev Neurosci
July 8, 2015

Next-generation sequencing, which allows genome-wide detection of rare and de novo mutations, is transforming neuropsychiatric disease genetics through identifying on an unprecedented scale genes and protein-coding mutations that confer risk. Although understanding how regulatory variants influence risk remains a challenge, we are likely transitioning into a phase of neuropsychiatric disease genetics in which the rate-limiting step may no longer be gene discovery. Instead, the future will concentrate more on the biological and clinical translation of the torrent of specific risk mutations identified through next-generation sequencing. Here, we review the recent progress that resulted specifically from exome sequencing and emphasize the need for rigorous statistical evaluation of the expanding data sets, as well as expanded functional analysis of implicated proteins and mutations. Then, we introduce some of the expected opportunities and challenges investigators face when moving beyond the exome. Finally, we briefly highlight the challenge of deriving translational benefit from the progress in genetics.

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Published In

Annu Rev Neurosci

DOI

EISSN

1545-4126

Publication Date

July 8, 2015

Volume

38

Start / End Page

47 / 68

Location

United States

Related Subject Headings

  • Neurology & Neurosurgery
  • Nervous System Diseases
  • Mutation
  • Mental Disorders
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Exome
  • 5202 Biological psychology
 

Citation

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ICMJE
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Heinzen, E. L., Neale, B. M., Traynelis, S. F., Allen, A. S., & Goldstein, D. B. (2015). The genetics of neuropsychiatric diseases: looking in and beyond the exome. Annu Rev Neurosci, 38, 47–68. https://doi.org/10.1146/annurev-neuro-071714-034136
Heinzen, Erin L., Benjamin M. Neale, Stephen F. Traynelis, Andrew S. Allen, and David B. Goldstein. “The genetics of neuropsychiatric diseases: looking in and beyond the exome.Annu Rev Neurosci 38 (July 8, 2015): 47–68. https://doi.org/10.1146/annurev-neuro-071714-034136.
Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB. The genetics of neuropsychiatric diseases: looking in and beyond the exome. Annu Rev Neurosci. 2015 Jul 8;38:47–68.
Heinzen, Erin L., et al. “The genetics of neuropsychiatric diseases: looking in and beyond the exome.Annu Rev Neurosci, vol. 38, July 2015, pp. 47–68. Pubmed, doi:10.1146/annurev-neuro-071714-034136.
Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB. The genetics of neuropsychiatric diseases: looking in and beyond the exome. Annu Rev Neurosci. 2015 Jul 8;38:47–68.

Published In

Annu Rev Neurosci

DOI

EISSN

1545-4126

Publication Date

July 8, 2015

Volume

38

Start / End Page

47 / 68

Location

United States

Related Subject Headings

  • Neurology & Neurosurgery
  • Nervous System Diseases
  • Mutation
  • Mental Disorders
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Exome
  • 5202 Biological psychology