AutismKB: an evidence-based knowledgebase of autism genetics

doi:10.1093/nar/gkr1145

CORC > 北京大学 > 生命科学学院

	AutismKB: an evidence-based knowledgebase of autism genetics
	Xu, Li-Ming ; Li, Jia-Rui ; Huang, Yue ; Zhao, Min ; Tang, Xing ; Wei, Liping
刊名	核酸研究
	2012
关键词	DATABASE UPDATE 2011 HUMAN GENOME SPECTRUM DISORDER RNA-SEQ BIOINFORMATICS RESOURCES SYSTEMATIC METAANALYSES DISEASE-ONTOLOGY ASSOCIATION TRANSCRIPTOMES DIFFERENTIATION
DOI	10.1093/nar/gkr1145
英文摘要	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.; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000298601300152&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=8e1609b174ce4e31116a60747a720701 ; Biochemistry & Molecular Biology; SCI(E); PubMed; 58; ARTICLE; D1; D1016-D1022; 40
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/343575]
专题	生命科学学院
推荐引用方式 GB/T 7714	Xu, Li-Ming,Li, Jia-Rui,Huang, Yue,et al. AutismKB: an evidence-based knowledgebase of autism genetics[J]. 核酸研究,2012.
APA	Xu, Li-Ming,Li, Jia-Rui,Huang, Yue,Zhao, Min,Tang, Xing,&Wei, Liping.(2012).AutismKB: an evidence-based knowledgebase of autism genetics.核酸研究.
MLA	Xu, Li-Ming,et al."AutismKB: an evidence-based knowledgebase of autism genetics".核酸研究 (2012).