AutDB: a gene reference resource for autism research
By Saumyendra N. Basu, Ravi Kollu, S. Banerjee-Basu. Nucleic Acids Res., 2008
397 citations recorded by the source corpus.
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.
Subfields: Cognitive Neuroscience, Epidemiology, Genetics
View Paper: https://www.semanticscholar.org/paper/5dafa9d8ea6588883945a8bda5eceff21364011e
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Citations in the corpus
- SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) (2013, neutral): “Letter to the Editor Previous work has crafted curated lists of genes implicated in autism spectrum disorders (ASDs) [1-5], and in some cases developed loosely defined “evidence scores” for entries [6-8].”
- Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015, background): “…study identified molecular processes that are preferentially disrupted by ASD risk genes, including transcriptional regulation, chromatin regulation and synaptic development, and it identified disruption of specific pathways, such as BAF (SWI/ SNF) complex-mediated neuronal development 30,110,111 .”