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AutDB:一个用于自闭症研究的基因参考资源。

AutDB: a gene reference resource for autism research.

作者信息

Basu Saumyendra N, Kollu Ravi, Banerjee-Basu Sharmila

机构信息

MindSpec Inc., 9656 Blake Lane, Fairfax, VA 22031, USA.

出版信息

Nucleic Acids Res. 2009 Jan;37(Database issue):D832-6. doi: 10.1093/nar/gkn835. Epub 2008 Nov 10.

Abstract

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.

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f56/2686502/1cf18cb1f607/gkn835f1.jpg

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