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

Ghralaigh Fiana Ni; Gallagher Louise; Lopez Lorna M.

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

机译：自闭症谱系障碍基因组学：基因组技术的进展与潜力

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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.

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来源
《Genomics》 |2020年第6期|共7页
作者
Ghralaigh Fiana Ni; Gallagher Louise; Lopez Lorna M.;
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作者单位

Trinity Coll Dublin Dept Psychiat Dublin Ireland;

Trinity Coll Dublin Dept Psychiat Dublin Ireland;

Trinity Coll Dublin Dept Psychiat Dublin Ireland;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
Autism; Genomics; Rare; Variation; Whole-genome; Sequencing; ASD;

机译：自闭症;基因组学;罕见;变异;全基因组;测序;asd;

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机译：通过基于阵列的比较基因组杂交检测保加利亚自闭症谱系障碍患者的基因组失衡。
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Autism spectrum disorder genomics: The progress and potential of genomic technologies

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