Please be patient while the object screen loads.
USC
RESEARCH
BANK
USC Research Bank - University of the Sunshine Coast, Queensland, Australia
Home
About
Show
All
Contribute
Open Access
Copyright
Contact
USC Virtual Herbarium
Recent Additions
Browse USC Research Bank
+
Communities & Collections
By Resource Type
By Supervisor
By Title
by Author/Creator
By Subject
By Year
Search History
Clear Session
Show
Quick Collection
Advanced Search
Home
GeneCology Research Centre
Research Publications
AutismKB: An evidence-based knowledgebase of autism genetics
Add to Quick Collection
Description
Size
Format
PDF - Published Version (Open Access)
6 MB
Adobe Acrobat PDF
Download
Download All
PDF - Published Version (Open Access)
Title
AutismKB: An evidence-based knowledgebase of autism genetics
Author/Creator
Xu, L M
|
Li, Jia-Rui
|
Huang, Y
|
Zhao, Min
|
Tang, X
|
Wei, L
Description
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder with a prevalence of 0.9-2.6%. Twin studies showed a heritability of 38-90%, indicating strong genetic contributions. Yet it is unclear how many genes have been associated with ASD and how strong the evidence is. A comprehensive review and analysis of literature and data may bring a clearer big picture of autism genetics. We show that as many as 2193 genes, 2806 SNPs/VNTRs, 4544 copy number variations (CNVs) and 158 linkage regions have been associated with ASD by GWAS, genome-wide CNV studies, linkage analyses, low-scale genetic association studies, expression profiling and other low-scale experimental studies. To evaluate the evidence, we collected metadata about each study including clinical and demographic features, experimental design and statistical significance, and used a scoring and ranking approach to select a core data set of 434 high-confidence genes. The genes mapped to pathways including neuroactive ligand-receptor interaction, synapse transmission and axon guidance. To better understand the genes we parsed over 30 databases to retrieve extensive data about expression patterns, protein interactions, animal models and pharmacogenetics. We constructed a MySQL-based online database and share it with the broader autism research community at http://autismkb.cbi.pku. edu.cn, supporting sophisticated browsing and searching functionalities. © The Author(s) 2011. Published by Oxford University Press.
Relation
Nucleic Acids Research / Vol. 40, No. D1, pp.D1016-D1022
Relation
http://dx.doi.org/10.1093/nar/gkr1145
Year
2012
Publisher
Oxford University Press
Subject
FoR 05 (Environmental Sciences)
|
FoR 06 (Biological Sciences)
|
FoR 08 (Information and Computing Sciences)
|
autism
|
AutismKB data base
|
copy number variation
|
demography
|
gene expression profiling
|
gene mapping
|
genetic association
|
genetic linkage
|
human
|
knowledge base
|
prevalence
|
protein protein interaction
|
scoring system
Collection(s)
Research Publications
Resource Type
Journal Article
Identifier
ISSN: 0305-1048
Rights
Copyright © The Author(s) 2011. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Reviewed
843 Visitors
13 Downloads
Save/E-mail Citation
Citation Format
Plain Text Citation
HTML Citation
EndNote Format
E-mail Address
Subject
OR
© 2012 University of the Sunshine Coast, Queensland, Australia | ABN 28 441 859 157 | CRICOS Provider No. 01595D