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SNPsnap: a Web-based tool for identification and annotation of matched SNPs
Author(s) -
Tune H. Pers,
Pascal Timshel,
Joel N. Hirschhorn
Publication year - 2014
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btu655
Subject(s) - single nucleotide polymorphism , linkage disequilibrium , genome wide association study , tag snp , snp , expression quantitative trait loci , genetic association , computational biology , identification (biology) , biology , genetics , computer science , gene , genotype , botany
An important computational step following genome-wide association studies (GWAS) is to assess whether disease or trait-associated single-nucleotide polymorphisms (SNPs) enrich for particular biological annotations. SNP-based enrichment analysis needs to account for biases such as co-localization of GWAS signals to gene-dense and high linkage disequilibrium (LD) regions, and correlations of gene size, location and function. The SNPsnap Web server enables SNP-based enrichment analysis by providing matched sets of SNPs that can be used to calibrate background expectations. Specifically, SNPsnap efficiently identifies sets of randomly drawn SNPs that are matched to a set of query SNPs based on allele frequency, number of SNPs in LD, distance to nearest gene and gene density.

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