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AutDB: a gene reference resource for autism research

机译:AutDB:自闭症研究的基因参考资源

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摘要

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 (), 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.
机译: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,并且继续以更快的速度进行。为了解决ASD的遗传复杂性,我们开发了AutDB(),这是一个公开可用的Web门户,用于不断收集,手动注释和可视化与该疾病相关的基因。我们在AutDB中提出了一种疾病驱动的数据库模型,其中收集了所有与ASD相关的基因并根据其遗传变异进行了分类:从遗传关联研究,罕见的单基因突变和与综合征自闭症相关的基因中识别出的候选者。由于基因条目与自闭症的相关性以及对其分子功能的深入了解,对它们进行了丰富的注释。 AutDB的内容完全源自已出版的科学文献,并进行了组织优化以优化研究团体的使用。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,以询问该疾病的潜在分子机制。可以复制我们在遗传复杂疾病中的综合知识表示模型,以研究其他此类疾病。

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