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AutDB:一个解码自闭症遗传结构的平台。

AutDB: a platform to decode the genetic architecture of autism.

机构信息

MindSpec Inc., 8280 Greensboro Drive, Suite 150, McLean, VA 22102, USA.

出版信息

Nucleic Acids Res. 2018 Jan 4;46(D1):D1049-D1054. doi: 10.1093/nar/gkx1093.

DOI:10.1093/nar/gkx1093
PMID:29186576
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5753210/
Abstract

AutDB is a deeply annotated resource for exploring the impact of genetic variations associated with autism spectrum disorders (ASD). First released in 2007, AutDB has evolved into a multi-modular resource of diverse types of genetic and functional evidence related to ASD. Current modules include: Human Gene, which annotates all ASD-linked genes and their variants; Animal Model, which catalogs behavioral, anatomical and physiological data from rodent models of ASD; Protein Interaction (PIN), which builds interactomes from direct relationships of protein products of ASD genes; and Copy Number Variant (CNV), which catalogs deletions and duplications of chromosomal loci identified in ASD. A multilevel data-integration strategy is utilized to connect the ASD genes to the components of the other modules. All information in this resource is manually curated by expert scientists from primary scientific publications and is referenced to source articles. AutDB is actively maintained with a rigorous quarterly data release schedule. As of June 2017, AutDB contains detailed annotations for 910 genes, 2197 CNV loci, 1060 rodent models and 38 296 PINs. With its widespread use by the research community, AutDB serves as a reference resource for analysis of large datasets, accelerating ASD research and potentially leading to targeted drug treatments. AutDB is available at http://autism.mindspec.org/autdb/Welcome.do.

摘要

AutDB 是一个深度注释资源,用于探索与自闭症谱系障碍 (ASD) 相关的遗传变异的影响。AutDB 于 2007 年首次发布,现已发展成为一个与 ASD 相关的多种遗传和功能证据的多模块资源。目前的模块包括:人类基因,注释所有与 ASD 相关的基因及其变体;动物模型,从 ASD 啮齿动物模型的行为、解剖和生理数据进行编目;蛋白质相互作用 (PIN),从 ASD 基因的蛋白质产物的直接关系构建相互作用组;和拷贝数变异 (CNV),编目在 ASD 中鉴定的染色体基因座的缺失和重复。利用多层次的数据集成策略将 ASD 基因与其他模块的组件连接起来。该资源中的所有信息均由来自主要科学出版物的专家科学家手动整理,并引用来源文章。AutDB 按照严格的季度数据发布计划进行积极维护。截至 2017 年 6 月,AutDB 包含 910 个基因、2197 个 CNV 基因座、1060 个啮齿动物模型和 38296 个 PIN 的详细注释。由于研究界的广泛使用,AutDB 作为分析大型数据集的参考资源,加速了 ASD 研究,并可能导致针对特定药物的治疗。AutDB 可在 http://autism.mindspec.org/autdb/Welcome.do 获得。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c09/5753210/398850216da0/gkx1093fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c09/5753210/fa6c25d95348/gkx1093fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c09/5753210/398850216da0/gkx1093fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c09/5753210/fa6c25d95348/gkx1093fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c09/5753210/398850216da0/gkx1093fig2.jpg

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Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6.
2
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.靶向测序鉴定出91个具有自闭症和发育障碍倾向的神经发育障碍风险基因。
Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.
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A systematic variant annotation approach for ranking genes associated with autism spectrum disorders.
用于识别自闭症谱系障碍关键基因的混合深度学习方法。
Healthc Technol Lett. 2025 Apr 22;12(1):e12104. doi: 10.1049/htl2.12104. eCollection 2025 Jan-Dec.
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Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.遗传性全面性癫痫的家族性形式中的遗传异质性:从单基因到寡基因。
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Database-assisted screening of autism spectrum disorder related gene set.数据库辅助的自闭症谱系障碍相关基因集筛查。
Mol Brain. 2024 Aug 9;17(1):55. doi: 10.1186/s13041-024-01127-0.
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