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自闭症谱系障碍基因组学:基因组技术的进展和潜力。

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

机构信息

Department of Psychiatry, Trinity College Dublin, Ireland; Department of Biology, Maynooth University, Ireland.

Department of Psychiatry, Trinity College Dublin, Ireland.

出版信息

Genomics. 2020 Nov;112(6):5136-5142. doi: 10.1016/j.ygeno.2020.09.022. Epub 2020 Sep 15.

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.

摘要

基因组学技术加速了自闭症谱系障碍(ASD)基因组学的研究进展,并有望进一步改变我们对这种神经发育障碍遗传基础的理解。在这里,我们回顾了 ASD 遗传基础的现有证据,介绍了迄今为止大规模研究的进展,并强调了基因组学技术的潜力。特别是,我们讨论了在基于家族的研究中识别罕见遗传变异的重要性的证据。基因组学是未来医疗保健的关键特征,我们的综述说明了它提高我们对神经发育障碍的生物学理解的潜力,并最终有助于 ASD 诊断、为医疗决策提供信息,并使基因组学成为个性化医疗的核心。

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