• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

人工智能在痴呆症遗传学和组学中的应用。

Artificial intelligence for dementia genetics and omics.

机构信息

Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.

Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, UK.

出版信息

Alzheimers Dement. 2023 Dec;19(12):5905-5921. doi: 10.1002/alz.13427. Epub 2023 Aug 22.

DOI:
10.1002/alz.13427
PMID:37606627
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10841325/
Abstract

Genetics and omics studies of Alzheimer's disease and other dementia subtypes enhance our understanding of underlying mechanisms and pathways that can be targeted. We identified key remaining challenges: First, can we enhance genetic studies to address missing heritability? Can we identify reproducible omics signatures that differentiate between dementia subtypes? Can high-dimensional omics data identify improved biomarkers? How can genetics inform our understanding of causal status of dementia risk factors? And which biological processes are altered by dementia-related genetic variation? Artificial intelligence (AI) and machine learning approaches give us powerful new tools in helping us to tackle these challenges, and we review possible solutions and examples of best practice. However, their limitations also need to be considered, as well as the need for coordinated multidisciplinary research and diverse deeply phenotyped cohorts. Ultimately AI approaches improve our ability to interrogate genetics and omics data for precision dementia medicine. HIGHLIGHTS: We have identified five key challenges in dementia genetics and omics studies. AI can enable detection of undiscovered patterns in dementia genetics and omics data. Enhanced and more diverse genetics and omics datasets are still needed. Multidisciplinary collaborative efforts using AI can boost dementia research.

摘要

阿尔茨海默病和其他痴呆亚型的遗传学和组学研究增强了我们对潜在机制和可靶向途径的理解。我们确定了关键的遗留挑战:首先,我们能否增强遗传研究以解决遗传缺失问题?我们能否确定可区分痴呆亚型的可重复组学特征?高维组学数据能否识别出改进的生物标志物?遗传学如何帮助我们了解痴呆风险因素的因果地位?哪些生物过程会被与痴呆相关的遗传变异改变?人工智能 (AI) 和机器学习方法为我们提供了强大的新工具,帮助我们应对这些挑战,我们将回顾可能的解决方案和最佳实践示例。然而,也需要考虑到它们的局限性,以及协调多学科研究和多样化的深度表型队列的必要性。最终,人工智能方法提高了我们通过精准痴呆医学对遗传学和组学数据进行探究的能力。重点:我们已经确定了痴呆遗传学和组学研究中的五个关键挑战。AI 可以帮助发现痴呆遗传学和组学数据中的未知模式。需要增强和更多样化的遗传学和组学数据集。使用 AI 的多学科合作可以促进痴呆研究。

相似文献

1
Artificial intelligence for dementia genetics and omics.人工智能在痴呆症遗传学和组学中的应用。
Alzheimers Dement. 2023 Dec;19(12):5905-5921. doi: 10.1002/alz.13427. Epub 2023 Aug 22.
2
Artificial intelligence for biomarker discovery in Alzheimer's disease and dementia.人工智能在阿尔茨海默病和痴呆症生物标志物发现中的应用。
Alzheimers Dement. 2023 Dec;19(12):5860-5871. doi: 10.1002/alz.13390. Epub 2023 Aug 31.
3
Advancing optical nanosensors with artificial intelligence: A powerful tool to identify disease-specific biomarkers in multi-omics profiling.利用人工智能推进光学纳米传感器:在多组学分析中识别疾病特异性生物标志物的强大工具。
Talanta. 2025 May 15;287:127693. doi: 10.1016/j.talanta.2025.127693. Epub 2025 Feb 4.
4
Artificial intelligence for dementia prevention.人工智能在预防痴呆中的应用。
Alzheimers Dement. 2023 Dec;19(12):5952-5969. doi: 10.1002/alz.13463. Epub 2023 Oct 14.
5
Explainable biology for improved therapies in precision medicine: AI is not enough.精准医学中用于改进治疗方法的可解释生物学:仅靠人工智能是不够的。
Best Pract Res Clin Rheumatol. 2024 Dec;38(4):102006. doi: 10.1016/j.berh.2024.102006. Epub 2024 Sep 26.
6
Artificial intelligence for neurodegenerative experimental models.人工智能在神经退行性实验模型中的应用。
Alzheimers Dement. 2023 Dec;19(12):5970-5987. doi: 10.1002/alz.13479. Epub 2023 Sep 28.
7
Precision medicine in colorectal cancer: Leveraging multi-omics, spatial omics, and artificial intelligence.结直肠癌的精准医学:利用多组学、空间组学和人工智能
Clin Chim Acta. 2024 Jun 1;559:119686. doi: 10.1016/j.cca.2024.119686. Epub 2024 Apr 23.
8
AI-driven innovations in Alzheimer's disease: Integrating early diagnosis, personalized treatment, and prognostic modelling.人工智能驱动的阿尔茨海默病创新:整合早期诊断、个性化治疗和预后建模。
Ageing Res Rev. 2024 Nov;101:102497. doi: 10.1016/j.arr.2024.102497. Epub 2024 Sep 16.
9
Unraveling the Mysteries of Alzheimer's Disease Using Artificial Intelligence.利用人工智能揭开阿尔茨海默病之谜。
Rev Recent Clin Trials. 2025;20(2):124-141. doi: 10.2174/0115748871330861241030143321.
10
Utilizing Feature Selection Techniques for AI-Driven Tumor Subtype Classification: Enhancing Precision in Cancer Diagnostics.利用特征选择技术进行人工智能驱动的肿瘤亚型分类:提高癌症诊断的精度。
Biomolecules. 2025 Jan 8;15(1):81. doi: 10.3390/biom15010081.

引用本文的文献

1
Circuit training intervention for cognitive function, gut microbiota, and aging control: study protocol for a longitudinal, open-label randomized controlled trial.针对认知功能、肠道微生物群和衰老控制的循环训练干预:一项纵向、开放标签随机对照试验的研究方案
Trials. 2025 Mar 18;26(1):94. doi: 10.1186/s13063-025-08807-9.
2
LD-informed deep learning for Alzheimer's gene loci detection using WGS data.基于全基因组测序(WGS)数据,利用LD信息的深度学习进行阿尔茨海默病基因座检测
Alzheimers Dement (N Y). 2025 Jan 16;11(1):e70041. doi: 10.1002/trc2.70041. eCollection 2025 Jan-Mar.
3
Enhancing Transcriptomic Insights into Neurological Disorders Through the Comparative Analysis of Shapley Values.

本文引用的文献

1
Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease.多祖裔荟萃分析及阿尔茨海默病精细定位研究。
Mol Psychiatry. 2023 Jul;28(7):3121-3132. doi: 10.1038/s41380-023-02089-w. Epub 2023 May 18.
2
Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes.脑 DNA 甲基化组分析在额颞叶变性中揭示了 OTUD4 在跨病理亚型的共享失调特征中。
Acta Neuropathol. 2023 Jul;146(1):77-95. doi: 10.1007/s00401-023-02583-z. Epub 2023 May 7.
3
The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism.
通过夏普利值的比较分析增强对神经系统疾病的转录组学洞察
Curr Issues Mol Biol. 2024 Nov 29;46(12):13583-13606. doi: 10.3390/cimb46120812.
4
Use of Artificial Intelligence in Imaging Dementia.人工智能在痴呆症成像中的应用。
Cells. 2024 Nov 27;13(23):1965. doi: 10.3390/cells13231965.
5
LD-informed deep learning for Alzheimer's gene loci detection using WGS data.基于全基因组测序(WGS)数据,利用LD信息的深度学习进行阿尔茨海默病基因座检测
medRxiv. 2024 Dec 12:2024.09.19.24313993. doi: 10.1101/2024.09.19.24313993.
6
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.脊髓性肌萎缩症患者接受 nusinersen 治疗后的蛋白质组学分析和机器学习。
Cell Mol Life Sci. 2024 Sep 10;81(1):393. doi: 10.1007/s00018-024-05426-6.
7
Mapping Knowledge Landscapes and Emerging Trends in AI for Dementia Biomarkers: Bibliometric and Visualization Analysis.痴呆生物标志物人工智能知识图谱与新兴趋势:文献计量与可视化分析
J Med Internet Res. 2024 Aug 8;26:e57830. doi: 10.2196/57830.
8
Advances in neuroproteomics for neurotrauma: unraveling insights for personalized medicine and future prospects.神经创伤神经蛋白质组学的进展:揭示个性化医学的见解与未来前景
Front Neurol. 2023 Nov 22;14:1288740. doi: 10.3389/fneur.2023.1288740. eCollection 2023.
帕金森病基础数据倡议:推动从基因图谱到发病机制的高效转化。
Cell Genom. 2023 Feb 6;3(3):100261. doi: 10.1016/j.xgen.2023.100261. eCollection 2023 Mar 8.
4
The spatial landscape of gene expression isoforms in tissue sections.组织切片中基因表达异构体的空间景观。
Nucleic Acids Res. 2023 May 8;51(8):e47. doi: 10.1093/nar/gkad169.
5
Examining the Lancet Commission risk factors for dementia using Mendelian randomisation.使用孟德尔随机化方法研究 Lancet 委员会痴呆风险因素。
BMJ Ment Health. 2023 Feb;26(1). doi: 10.1136/bmjment-2022-300555. Epub 2023 Feb 7.
6
African ancestry GWAS of dementia in a large military cohort identifies significant risk loci.非洲裔人群 GWAS 分析发现,大量军事队列痴呆症的显著风险位点。
Mol Psychiatry. 2023 Mar;28(3):1293-1302. doi: 10.1038/s41380-022-01890-3. Epub 2022 Dec 22.
7
Transcriptome-wide and stratified genomic structural equation modeling identify neurobiological pathways shared across diverse cognitive traits.转录组范围和分层基因组结构方程模型确定了跨多种认知特征共享的神经生物学途径。
Nat Commun. 2022 Oct 21;13(1):6280. doi: 10.1038/s41467-022-33724-9.
8
Deep mendelian randomization: Investigating the causal knowledge of genomic deep learning models.深度孟德尔随机化:探究基因组深度学习模型的因果知识。
PLoS Comput Biol. 2022 Oct 20;18(10):e1009880. doi: 10.1371/journal.pcbi.1009880. eCollection 2022 Oct.
9
DNA methylation signatures of Alzheimer's disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types.阿尔茨海默病皮层神经病理学的 DNA 甲基化特征主要受非神经元细胞类型的变异驱动。
Nat Commun. 2022 Sep 24;13(1):5620. doi: 10.1038/s41467-022-33394-7.
10
Genetics of the human microglia regulome refines Alzheimer's disease risk loci.人类小胶质细胞调控组遗传学精确定位阿尔茨海默病风险基因座。
Nat Genet. 2022 Aug;54(8):1145-1154. doi: 10.1038/s41588-022-01149-1. Epub 2022 Aug 5.