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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神经影像学揭示 CNV 携带者大脑结构和功能的改变。


拷贝数变异 (CNV) 与神经精神疾病发病率升高相关。 “遗传学优先”的方法涉及 CNV 对大脑的影响，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，越来越多的大型多位点神经影像学研究调查 CNV 对大脑结构和功能内表型的影响。这些改变与特发性精神疾病中发现的改变重叠，但效果大小是两倍到五倍。在这里，我们回顾了与 CNV 相关的新的大脑结构和功能改变，并概述了神经影像基因组学研究的未来，特别强调为高风险 CNV 和罕见基因组变异的研究开发新资源。