| Title: |
SNPsnap: a Web-based tool for identification and annotation of matched SNPs |
| Authors: |
Pers, Tune H.; Timshel, Pascal; Hirschhorn, Joel N. |
| Source: |
Bioinformatics ; volume 31, issue 3, page 418-420 ; ISSN 1367-4811 1367-4803 |
| Publisher Information: |
Oxford University Press (OUP) |
| Publication Year: |
2014 |
| Description: |
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/ . Contact: joelh@broadinstitute.org Supplementary information: Supplementary data are available at Bioinformatics online. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1093/bioinformatics/btu655 |
| Availability: |
https://doi.org/10.1093/bioinformatics/btu655; https://academic.oup.com/bioinformatics/article-pdf/31/3/418/49011237/bioinformatics_31_3_418.pdf |
| Accession Number: |
edsbas.29173374 |
| Database: |
BASE |