Literature DB >> 32941983

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

Fiana Ní Ghrálaigh1, Louise Gallagher2, Lorna M Lopez3.   

Abstract

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.
Copyright © 2020. Published by Elsevier Inc.

Entities:  

Keywords:  ASD; Autism; Genomics; Rare; Sequencing; Variation; Whole-genome

Year:  2020        PMID: 32941983     DOI: 10.1016/j.ygeno.2020.09.022

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  2 in total

1.  Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism.

Authors:  Fiana Ní Ghrálaigh; Ellen McCarthy; Daniel N Murphy; Louise Gallagher; Lorna M Lopez
Journal:  J Autism Dev Disord       Date:  2022-01-07

2.  Maternal Immune Activation and Interleukin 17A in the Pathogenesis of Autistic Spectrum Disorder and Why It Matters in the COVID-19 Era.

Authors:  Michael Carter; Sophie Casey; Gerard W O'Keeffe; Louise Gibson; Louise Gallagher; Deirdre M Murray
Journal:  Front Psychiatry       Date:  2022-02-17       Impact factor: 4.157

  2 in total

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