AutDB: a gene reference resource for autism research

被引:283
作者
Basu, Saumyendra N. [1 ]
Kollu, Ravi [1 ]
Banerjee-Basu, Sharmila [1 ]
机构
[1] MindSpec Inc, Fairfax, VA 22031 USA
关键词
SPECTRUM; DISORDERS; MUTATIONS; PHENOTYPE; LINKAGE; LOCI;
D O I
10.1093/nar/gkn835
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
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 (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.
引用
收藏
页码:D832 / D836
页数:5
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