AutDB: a gene reference resource for autism research.
AutDB: a gene reference resource for autism research.
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DOI：
10.1093/nar/gkn835
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发表时间：
2009-01
影响因子：
14.9
通讯作者：
Banerjee-Basu S
中科院分区：
文献类型：
--
作者：
Basu SN;Kollu R;Banerjee-Basu S
自闭症谱系障碍（ASD）研究的最新进展已经发现了许多新的候选基因，并继续以加速的速度这样做。为了解决ASD的遗传复杂性，我们开发了AutDB（http：//www.mindspec.org/autdb.html），这是一个公开可用的门户网站，用于持续收集、手动注释和可视化与该疾病相关的基因。我们在AutDB中提出了一个疾病驱动的数据库模型，其中收集了与ASD相关的所有基因，并根据其遗传变异进行分类：从遗传关联研究中确定的候选基因，罕见的单基因突变和与综合征型自闭症相关的基因。基因条目被丰富地注释了它们与自闭症的相关性，沿着了它们分子功能的深入视图。AutDB的内容完全来自已出版的科学文献，并被组织以优化研究社区的使用。该资源的主要重点是以参考数据集的形式提供ASD候选基因的最新注释列表，以询问疾病的分子机制。我们的模型在遗传复杂疾病的巩固知识表示可以复制到研究其他此类疾病。
Recent advances in studies of Autism Spectrum Disorders (ASD) has uncovered many new candidate genes and continues to do so at an accelerated pace. To address the genetic complexity of ASD, we have developed AutDB (http://www.mindspec.org/autdb.html), a publicly available web-portal for on-going collection, manual annotation and visualization of genes linked to the disorder. We present a disease-driven database model in AutDB where all genes connected to ASD are collected and classified according to their genetic variation: candidates identified from genetic association studies, rare single gene mutations and genes linked to syndromic autism. Gene entries are richly annotated for their relevance to autism, along with an in-depth view of their molecular functions. The content of AutDB originates entirely from the published scientific literature and is organized to optimize its use by the research community. The main focus of this resource is to provide an up-to-date, annotated list of ASD candidate genes in the form of reference dataset for interrogating molecular mechanisms underlying the disorder. Our model for consolidated knowledge representation in genetically complex disorders could be replicated to study other such disorders.
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影响因子：
30.8
作者：
Durand, Christelle M.;Betancur, Catalina;Bourgeron, Thomas
通讯作者：
Bourgeron, Thomas
影响因子：
56.9
作者：
Morrow, Eric M.;Yoo, Seung-Yun;Flavell, Steven W.;Kim, Tae-Kyung;Lin, Yingxi;Hill, Robert Sean;Mukaddes, Nahit M.;Balkhy, Soher;Gascon, Generoso;Hashmi, Asif;Al-Saad, Samira;Ware, Janice;Joseph, Robert M.;Greenblatt, Rachel;Gleason, Danielle;Ertelt, Julia A.;Apse, Kira A.;Bodell, Adria;Partlow, Jennifer N.;Barry, Brenda;Yao, Hui;Markianos, Kyriacos;Ferland, Russell J.;Greenberg, Michael E.;Walsh, Christopher A.
通讯作者：
Walsh, Christopher A.
影响因子：
6.9
作者：
BAILEY, A;LECOUTEUR, A;RUTTER, M
通讯作者：
RUTTER, M
影响因子：
56.9
作者：
Sebat, Jonathan;Lakshmi, B.;Wigler, Michael
通讯作者：
Wigler, Michael
影响因子：
30.8
作者：
Szatmari, Peter;Paterson, Andrew D.;Shih, Andy
通讯作者：
Shih, Andy