SNPsnap: a Web-based tool for identification and annotation of matched SNPs

Research output: Contribution to journalJournal articleResearchpeer-review

SUMMARY: 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. Availability and implementation: SNPsnap server is available at http://www.broadinstitute.org/mpg/snpsnap/.\n\nCONTACT: joelh@broadinstitute.org Supplementary information: Supplementary data are available at Bioinformatics online.
Original languageEnglish
JournalBioinformatics
Volume31
Issue number3
Pages (from-to)418-420
Number of pages3
ISSN1367-4803
DOIs
Publication statusPublished - 2015
Externally publishedYes

ID: 211103697