Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies

Leejee Choi, Joon Yong An

Research output: Contribution to journalReview articlepeer-review

29 Citations (Scopus)


Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component. Recently developed genomic technologies, including microarray and next-generation sequencing (NGS), have enabled researchers to genetic analyses aimed at identifying genetic variations associated with ASD and to elucidate the genetic architecture of the disorder. Large-scale microarray, exome sequencing analyses, and robust statistical methods have resulted in successful gene discovery and identification of high-confidence ASD genes from among de novo and inherited variants. Efforts have been made to understand the genetic architecture of ASD using whole-genome sequencing and genome-wide association studies aimed at identifying noncoding mutations and common variants associated with ASD. In addition, the development of systems biology approaches has resulted in the integration of genetic findings with functional genomic datasets, thereby providing a unique insight into the functional convergence of ASD risk genes and their neurobiology. In this review, we summarize the latest findings of ASD genetic studies involving large cohorts and discuss their implications in ASD neurobiology and in clinical practice.

Original languageEnglish
Pages (from-to)244-257
Number of pages14
JournalNeuroscience and Biobehavioral Reviews
Publication statusPublished - 2021 Sept

Bibliographical note

Funding Information:
This work was supported by the National Research Foundation of Korea (grant numbers 2017M3C7A1026959 and 2020R1C1C1003426 to JA) and Korea University Grant (to JA) and the Kwanjeong Educational Foundation (to LC).

Publisher Copyright:
© 2021 The Author(s)


  • Autism spectrum disorder (ASD)
  • Gene discovery
  • Locus discovery
  • Neurodevelopment
  • Whole exome sequencing
  • Whole-genome sequencing

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Cognitive Neuroscience
  • Behavioral Neuroscience


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