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脑影像遗传学中的统计与机器学习分析:方法综述。

Statistical and Machine Learning Analysis in Brain-Imaging Genetics: A Review of Methods.

机构信息

Texas Institute for Evaluation, Measurement, and Statistics, University of Houston, Houston, TX, USA.

Department of Physics, University of Houston, Houston, TX, USA.

出版信息

Behav Genet. 2024 May;54(3):233-251. doi: 10.1007/s10519-024-10177-y. Epub 2024 Feb 10.

DOI:10.1007/s10519-024-10177-y
PMID:38336922
Abstract

Brain-imaging-genetic analysis is an emerging field of research that aims at aggregating data from neuroimaging modalities, which characterize brain structure or function, and genetic data, which capture the structure and function of the genome, to explain or predict normal (or abnormal) brain performance. Brain-imaging-genetic studies offer great potential for understanding complex brain-related diseases/disorders of genetic etiology. Still, a combined brain-wide genome-wide analysis is difficult to perform as typical datasets fuse multiple modalities, each with high dimensionality, unique correlational landscapes, and often low statistical signal-to-noise ratios. In this review, we outline the progress in brain-imaging-genetic methodologies starting from early massive univariate to current deep learning approaches, highlighting each approach's strengths and weaknesses and elongating it with the field's development. We conclude by discussing selected remaining challenges and prospects for the field.

摘要

脑影像遗传学分析是一个新兴的研究领域,旨在整合神经影像学模态的数据,这些模态可以描述大脑的结构或功能,以及遗传数据,这些数据可以捕捉基因组的结构和功能,以解释或预测正常(或异常)的大脑表现。脑影像遗传学研究为理解具有遗传病因的复杂脑相关疾病/障碍提供了巨大的潜力。尽管如此,由于典型的数据集融合了多种模态,每种模态都具有高维度、独特的相关性景观,而且通常统计信号与噪声比低,因此很难进行全脑全基因组的联合分析。在这篇综述中,我们从早期的大规模单变量方法开始,概述了脑影像遗传学方法的进展,目前已经发展到深度学习方法,强调了每种方法的优缺点,并随着该领域的发展进行了阐述。最后,我们讨论了该领域的一些遗留挑战和前景。

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本文引用的文献

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The genetic architecture of the corpus callosum and its genetic overlap with common neuropsychiatric diseases.胼胝体的遗传结构及其与常见神经精神疾病的遗传重叠。
J Affect Disord. 2023 Aug 15;335:418-430. doi: 10.1016/j.jad.2023.05.002. Epub 2023 May 8.
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Inferring the Genetic Influences on Psychological Traits Using MRI Connectivity Predictive Models: Demonstration with Cognition.使用MRI连通性预测模型推断基因对心理特质的影响:以认知为例
Complex Psychiatry. 2022 Dec 1;8(3-4):63-79. doi: 10.1159/000527224. eCollection 2023 Jan-Dec.
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Reproducible brain-wide association studies require thousands of individuals.
可复制的全脑关联研究需要数千人参与。
Nature. 2022 Mar;603(7902):654-660. doi: 10.1038/s41586-022-04492-9. Epub 2022 Mar 16.
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Ancestry may confound genetic machine learning: Candidate-gene prediction of opioid use disorder as an example.遗传可能会混淆基因机器学习:以阿片类药物使用障碍的候选基因预测为例。
Drug Alcohol Depend. 2021 Dec 1;229(Pt B):109115. doi: 10.1016/j.drugalcdep.2021.109115. Epub 2021 Oct 9.
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Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.基于顶点的多变量全基因组关联研究确定了 780 个与皮质形态相关的独特遗传位点。
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Deep Learning with Neuroimaging and Genomics in Alzheimer's Disease.深度学习在阿尔茨海默病中的神经影像学和基因组学研究
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