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

    Ní Ghrálaigh, Fiana and Gallagher, Louise and Lopez, Lorna M. (2020) Autism spectrum disorder genomics: The progress and potential of genomic technologies. Genomics, 112 (6). pp. 5136-5142. ISSN 08887543

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    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.

    Item Type: Article
    Keywords: Autism; Genomics; Rare; Variation; Whole-genome; Sequencing; ASD;
    Academic Unit: Faculty of Science and Engineering > Biology
    Faculty of Science and Engineering > Research Institutes > Human Health Institute
    Item ID: 16148
    Identification Number:
    Depositing User: Lorna Lopez
    Date Deposited: 20 Jun 2022 11:17
    Journal or Publication Title: Genomics
    Refereed: Yes
    Use Licence: This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here

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