Autism spectrum disorder genomics: The progress and potential of genomic technologies

Genomic technologies have accelerated research progress in autism spectrum disorder (ASD) genomics and promises to further transform our understanding of the genetic basis of this neurodevelopmental disorder. Here we review the current evidence for the genetic basis of ASD, present the progress of l...

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Bibliographic Details
Published in:Genomics (San Diego, Calif.) Calif.), 2020-11, Vol.112 (6), p.5136-5142
Main Authors: Ní Ghrálaigh, Fiana, Gallagher, Louise, Lopez, Lorna M.
Format: Article
Language:English
Subjects:
ASD
Autism
Genomics
Rare
Sequencing
Variation
Whole-genome
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Summary:Genomic technologies have accelerated research progress in autism spectrum disorder (ASD) genomics and promises to further transform our understanding of the genetic basis of this neurodevelopmental disorder. Here we review the current evidence for the genetic basis of ASD, present the progress of large-scale studies to date and highlight the potential of genomic technologies. In particular, we discuss evidence for the importance of identifying rare genetic variants in family-based studies. Genomics is a key feature of future healthcare and our review illustrates it's potential to improve our biological understanding of neurodevelopmental disorders, and to ultimately aid ASD diagnosis, inform medical decision making and establish genomics as central to personalised medicine. •Application of genomic technologies can detect rare ASD genetic variants.•Increased sequencing coverage of the human genome will increase variant identification.•Prioritising large-scale studies and family-based design are key to gene variant discovery.•Potential of genomics to aid ASD diagnosis and inform medical decision making.
ISSN:0888-7543
1089-8646
DOI:10.1016/j.ygeno.2020.09.022