SNPsnap: a Web-based tool for identification and annotation of matched SNPs.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 25316677.
- Also identified by DOI 10.1093/bioinformatics/btu655 and PMC identifier 4308663.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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. SNPsnap server is available at http://www.broadinstitute.org/mpg/snpsnap/. joelh@broadinstitute.org Supplementary data are available at Bioinformatics online.
Medical subject headings
- Genome-Wide Association Study
- Molecular Sequence Annotation
- Polymorphism, Single Nucleotide
- Software