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Choi L, An JY. Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. Neurosci Biobehav Rev. 2021;128:244-257doi: 10.1016/j.neubiorev.2021.06.028.
Choi, L., & An, J. Y. (2021). Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. Neuroscience and biobehavioral reviews, 128244-257. https://doi.org/10.1016/j.neubiorev.2021.06.028
Choi, Leejee, and An, Joon-Yong. "Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies." Neuroscience and biobehavioral reviews vol. 128 (2021): 244-257. doi: https://doi.org/10.1016/j.neubiorev.2021.06.028
Choi L, An JY. Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. Neurosci Biobehav Rev. 2021 Sep;128:244-257. doi: 10.1016/j.neubiorev.2021.06.028. Epub 2021 Jun 21. PMID: 34166716.
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Neurosci Biobehav Rev. 2021 Sep;128:244-257. doi: 10.1016/j.neubiorev.2021.06.028. Epub 2021 Jun 21.

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

Neuroscience and biobehavioral reviews

Leejee Choi, Joon-Yong An

Affiliations

  1. School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, 02841, Republic of Korea; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.
  2. School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, 02841, Republic of Korea; Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea; Transdisciplinary Major in Learning Health Systems, Department of Healthcare Sciences, Graduate School, Korea University, Seoul, 02841, Republic of Korea; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, 02841, Republic of Korea. Electronic address: [email protected].

PMID: 34166716 DOI: 10.1016/j.neubiorev.2021.06.028

Abstract

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.

Copyright © 2021 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Keywords: Autism spectrum disorder (ASD); Gene discovery; Locus discovery; Neurodevelopment; Whole exome sequencing; Whole-genome sequencing

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