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- Title
SCAN: SNP and copy number annotation.
- Authors
Gamazon, Eric R; Zhang, Wei; Konkashbaev, Anuar; Duan, Shiwei; Kistner, Emily O; Nicolae, Dan L; Dolan, M Eileen; Cox, Nancy J
- Abstract
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).
- Publication
Bioinformatics (Oxford, England), 2010, Vol 26, Issue 2, p259
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/btp644