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Whole-genome analyses of whole-brain data: working within an expanded search space

机译:全脑数据的全基因组分析:在扩展的搜索空间内工作

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摘要

Large-scale comparisons of patients and healthy controls have unearthed genetic risk factors associated with a range of neurological and psychiatric illnesses. Meanwhile, brain imaging studies are increasing in size and scope, revealing disease and genetic effects on brain structure and function, and implicating neural pathways and causal mechanisms. With the advent of global neuroimaging consortia, imaging studies are now well powered to discover genetic variants that reliably affect the brain. Genetic analyses of brain measures from tens of thousands of people are being extended to test genetic associations with signals at millions of locations in the brain. Connectome-wide, genome-wide scans can jointly screen brain circuits and genomes, presenting new statistical challenges. There is a growing need for the community to establish and enforce standards in this developing field to ensure robust findings. Here we discuss how neuroimagers and geneticists have formed alliances to discover how genetic factors affect the brain. The field is rapidly advancing with ultra-high-resolution imaging and whole-genome sequencing. We recommend a rigorous approach to neuroimaging genomics that capitalizes on its recent successes and ensures the reliability of future discoveries.
机译:对患者和健康对照者进行的大规模比较发现了与一系列神经系统疾病和精神疾病相关的遗传危险因素。同时,脑成像研究的规模和范围不断扩大,揭示疾病和遗传因素对脑结构和功能的影响,并涉及神经通路和因果机制。随着全球神经影像学联合会的出现,影像学研究已经可以很好地发现可靠影响大脑的遗传变异。数以万计的人对大脑测量的遗传分析正在扩展,以测试与大脑中数百万个位置的信号相关的遗传关联。全连接组,全基因组扫描可以联合筛选大脑回路和基因组,从而带来新的统计挑战。社区越来越需要在这个发展中的领域建立并执行标准,以确保有力的发现。在这里,我们讨论神经影像学家和遗传学家如何结成联盟,以发现遗传因素如何影响大脑。超高分辨率成像和全基因组测序领域正在迅速发展。我们建议采用严格的方法来利用神经影像基因组学的最新成果,并确保未来发现的可靠性。

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