Copy Number Variants (CNVs) are associated with elevated rates of neuropsychiatric disorders. A 'genetics-first' approach, involving the CNV effects on the brain, irrespective of clinical symptomatology, allows investigation of mechanisms underlying neuropsychiatric disorders in the general population. Recent years have seen an increasing number of larger multisite neuroimaging studies investigating the effect of CNVs on structural and functional brain endophenotypes. Alterations overlap with those found in idiopathic psychiatric conditions but effect sizes are twofold to fivefold larger. Here we review new CNV-associated structural and functional brain alterations and outline the future of neuroimaging genomics research, with particular emphasis on developing new resources for the study of high-risk CNVs and rare genomic variants.

中文翻译：

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CNV携带者的神经影像学揭示了大脑的结构和功能改变。

拷贝数变异（CNV）与神经精神疾病的发病率升高有关。涉及CNV对大脑的影响的“遗传优先”方法，无论临床症状如何，都可以研究一般人群中神经精神疾病的潜在机制。近年来，越来越多的大型多站点神经影像研究研究了CNV对结构和功能性脑内表型的影响。改变与特发性精神病中发现的改变重叠，但影响的大小是原来的两倍至五倍。在这里，我们回顾了与CNV相关的新的结构和功能性大脑改变，并概述了神经影像基因组学研究的未来，特别着重于开发用于研究高风险CNV和稀有基因组变体的新资源。