Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites.
Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites.
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DOI：
10.1186/1471-2350-10-102
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发表时间：
2009-09-24
影响因子：
--
通讯作者：
Talebizadeh Z
中科院分区：
文献类型：
--
作者：
Matuszek G;Talebizadeh Z
自闭症是一种高度遗传的复杂神经发育障碍，因此确定其遗传基础一直具有挑战性。迄今为止，已经报道了许多与自闭症相关的易感基因和染色体异常，但大多数发现要么无法复制，要么影响很小。因此，在大多数情况下，潜在的致病遗传机制尚未完全了解。在目前的工作中，自闭症遗传数据库（AGD）开发为一个文献驱动的，基于网络的，易于访问的数据库，旨在为所有目前报道的基因和基因组拷贝数变异（CNVs）创建一个全面的知识库与自闭症相关，以进一步促进这些自闭症易感性遗传因素的评估。AGD是一个关系数据库，它组织了从详尽的文献检索中获得的与自闭症相关的易感基因和CNV的数据。此外，还从miRBase、snoRNA-LBME-db、piRNABank和MIT/ICBP siRNA数据库下载并解析了关于人类脆性位点和非编码RNA的基因组信息。网络客户端基因组浏览器使得能够查看特征，而网络客户端查询工具提供对特征的更具体信息的访问。如适用，提供外部数据库的链接，包括GenBank、PubMed、miRBase、snoRNA-LBME-db、piRNABank和MIT siRNA数据库。AGD包括迄今为止报道的与自闭症相关的易感基因和拷贝数变异的全面列表，以及所有已知的人类非编码RNA基因和脆性位点。这样一个独特的和包容性的自闭症遗传数据库将有助于评估自闭症易感因素与已知的人类非编码RNA和脆弱位点的关系，影响人类疾病。因此，这个新的自闭症数据库为研究界提供了一个有价值的工具，以综合的形式评估这种复杂的多因素疾病的遗传发现。AGD提供了一个基因组浏览器和一个基于Web的查询客户端，方便地选择感兴趣的功能。访问AGD可免费获得。
Autism is a highly heritable complex neurodevelopmental disorder, therefore identifying its genetic basis has been challenging. To date, numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism, but most discoveries either fail to be replicated or account for a small effect. Thus, in most cases the underlying causative genetic mechanisms are not fully understood. In the present work, the Autism Genetic Database (AGD) was developed as a literature-driven, web-based, and easy to access database designed with the aim of creating a comprehensive repository for all the currently reported genes and genomic copy number variations (CNVs) associated with autism in order to further facilitate the assessment of these autism susceptibility genetic factors. AGD is a relational database that organizes data resulting from exhaustive literature searches for reported susceptibility genes and CNVs associated with autism. Furthermore, genomic information about human fragile sites and noncoding RNAs was also downloaded and parsed from miRBase, snoRNA-LBME-db, piRNABank, and the MIT/ICBP siRNA database. A web client genome browser enables viewing of the features while a web client query tool provides access to more specific information for the features. When applicable, links to external databases including GenBank, PubMed, miRBase, snoRNA-LBME-db, piRNABank, and the MIT siRNA database are provided. AGD comprises a comprehensive list of susceptibility genes and copy number variations reported to-date in association with autism, as well as all known human noncoding RNA genes and fragile sites. Such a unique and inclusive autism genetic database will facilitate the evaluation of autism susceptibility factors in relation to known human noncoding RNAs and fragile sites, impacting on human diseases. As a result, this new autism database offers a valuable tool for the research community to evaluate genetic findings for this complex multifactorial disorder in an integrated format. AGD provides a genome browser and a web based query client for conveniently selecting features of interest. Access to AGD is freely available at .
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影响因子：
64.8
作者：
Cook, Edwin H., Jr.;Scherer, Stephen W.
通讯作者：
Scherer, Stephen W.
影响因子：
3.5
作者：
Bazeley, Peter S.;Shepelev, Valery;Fedorov, Alexei
通讯作者：
Fedorov, Alexei
DOI：
10.1073/pnas.0710263105
发表时间：
2008-04-29
影响因子：
11.1
作者：
Hebert, Sebastien S.;Horre, Katrien;De Strooper, Bart
通讯作者：
De Strooper, Bart
影响因子：
3.5
作者：
Chih, B;Afridi, SK;Scheiffele, P
通讯作者：
Scheiffele, P
影响因子：
56.9
作者：
Farh, KKH;Grimson, A;Bartel, DP
通讯作者：
Bartel, DP