SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study.

ABSTRACT: SPOT (http://spot.cgsmd.isi.edu), the SNP prioritization online tool, is a web site for integrating biological databases into the prioritization of single nucleotide polymorphisms (SNPs) for further study after a genome-wide association study (GWAS). Typically, the next step after a GWAS is to genotype the top signals in an independent replication sample. Investigators will often incorporate information from biological databases so that biologically relevant SNPs, such as those in genes related to the phenotype or with potentially non-neutral effects on gene expression such as a splice sites, are given higher priority. We recently introduced the genomic information network (GIN) method for systematically implementing this kind of strategy. The SPOT web site allows users to upload a list of

SUBMITTER: Saccone SF 

PROVIDER: S-EPMC2896195 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature