Genetic heterogeneity in autism: From single gene to a pathway perspective

Yong-Joon Chwae, Charles Claudianos

Research output: Contribution to journalReview ArticleOtherpeer-review

Abstract

The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major challenge. Recent advances in genetic screening and systems biology approaches have extended our knowledge of the genetic etiology of ASD. In this review, we discuss the paradigm shift from a single gene causation model to pathway perturbation model as a guide to better understand the pathophysiology of ASD. We discuss recent genetic findings obtained through next-generation sequencing (NGS) and examine various integrative analyses using systems biology and complex networks approaches that identify convergent patterns of genetic elements associated with ASD.

Original languageEnglish
Pages (from-to)442-453
Number of pages12
JournalNeuroscience and Biobehavioral Reviews
Volume68
DOIs
Publication statusPublished - 1 Sep 2016

Keywords

  • Autism spectrum disorders (ASD)
  • Brain gene expression
  • Genome sequencing
  • Neurodevelopment
  • Systems biology

Cite this

Chwae, Yong-Joon ; Claudianos, Charles. / Genetic heterogeneity in autism : From single gene to a pathway perspective. In: Neuroscience and Biobehavioral Reviews. 2016 ; Vol. 68. pp. 442-453.
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Genetic heterogeneity in autism : From single gene to a pathway perspective. / Chwae, Yong-Joon; Claudianos, Charles.

In: Neuroscience and Biobehavioral Reviews, Vol. 68, 01.09.2016, p. 442-453.

Research output: Contribution to journalReview ArticleOtherpeer-review

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