SNPsnap: a Web-based tool for identification and annotation of matched SNPs.
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| Abstract | 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 . CONTACT: joelh@broadinstitute.org SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. |
| Year of Publication | 2015
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| Journal | Bioinformatics
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| Volume | 31
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| Issue | 3
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| Pages | 418-20
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| Date Published | 2015 Feb 01
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| ISSN | 1367-4811
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| URL | |
| DOI | 10.1093/bioinformatics/btu655
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| PubMed ID | 25316677
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| PubMed Central ID | PMC4308663
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| Grant list | R01 DK075787 / DK / NIDDK NIH HHS / United States
2R01DK075787 / DK / NIDDK NIH HHS / United States
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