Basu Saumyendra N, Kollu Ravi, Banerjee-Basu Sharmila
MindSpec Inc., 9656 Blake Lane, Fairfax, VA 22031, USA.
Nucleic Acids Res. 2009 Jan;37(Database issue):D832-6. doi: 10.1093/nar/gkn835. Epub 2008 Nov 10.
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.
自闭症谱系障碍(ASD)研究的最新进展发现了许多新的候选基因,而且这一发现仍在加速进行。为了解决ASD的遗传复杂性问题,我们开发了AutDB(http://www.mindspec.org/autdb.html),这是一个公开的网络平台,用于持续收集、人工注释和可视化与该疾病相关的基因。我们在AutDB中提出了一种疾病驱动的数据库模型,其中所有与ASD相关的基因都根据其遗传变异进行收集和分类:从基因关联研究中鉴定出的候选基因、罕见的单基因突变以及与综合征性自闭症相关的基因。基因条目针对其与自闭症的相关性进行了丰富注释,并对其分子功能进行了深入分析。AutDB的内容完全源自已发表的科学文献,并经过整理以方便研究团体使用。该资源的主要重点是以参考数据集的形式提供一份最新的、带注释的ASD候选基因列表,用于探究该疾病潜在的分子机制。我们在遗传复杂性疾病中进行综合知识表示的模型可用于研究其他此类疾病。