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Autism spectrum disorder genomics: The progress and potential of genomic technologies.
Ní Ghrálaigh, Fiana; Gallagher, Louise; Lopez, Lorna M.
Afiliação
  • Ní Ghrálaigh F; Department of Psychiatry, Trinity College Dublin, Ireland; Department of Biology, Maynooth University, Ireland.
  • Gallagher L; Department of Psychiatry, Trinity College Dublin, Ireland.
  • Lopez LM; Department of Psychiatry, Trinity College Dublin, Ireland; Department of Biology, Maynooth University, Ireland. Electronic address: lorna.lopez@tcd.ie.
Genomics ; 112(6): 5136-5142, 2020 11.
Article em En | MEDLINE | ID: mdl-32941983
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genomics Assunto da revista: GENETICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Irlanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno do Espectro Autista Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genomics Assunto da revista: GENETICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Irlanda
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