作者
Eric R Gamazon, Wei Zhang, Anuar Konkashbaev, Shiwei Duan, Emily O Kistner, Dan L Nicolae, M Eileen Dolan, Nancy J Cox
发表日期
2010/1/15
期刊
Bioinformatics
卷号
26
期号
2
页码范围
259-262
出版商
Oxford University Press
简介
Motivation: Genome-wide association studies (GWAS) generate relationships between hundreds of thousands of single nucleotide polymorphisms (SNPs) and complex phenotypes. The contribution of the traditionally overlooked copy number variations (CNVs) to complex traits is also being actively studied. To facilitate the interpretation of the data and the designing of follow-up experimental validations, we have developed a database that enables the sensible prioritization of these variants by combining several approaches, involving not only publicly available physical and functional annotations but also multilocus linkage disequilibrium (LD) annotations as well as annotations of expression quantitative trait loci (eQTLs).
Results: For each SNP, the SCAN database provides: (i) summary information from eQTL mapping of HapMap SNPs to gene expression (evaluated by the Affymetrix exon …
引用总数
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学术搜索中的文章
ER Gamazon, W Zhang, A Konkashbaev, S Duan… - Bioinformatics, 2010