eSNPO (eQTL based SNP Ontology) is a SNP annotation database and enrichment analysis platform. GWAS is an examination of many common genetic variants in different individuals to see if any variant is associated with a trait. GWASs typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major diseases. Expression quantitative trait loci (eQTLs) are genomic loci that contribute to variation in expression levels of mRNAs. Gene Ontology (GO) is a major bioinformatics initiative to unify the representation of gene and gene product attributes across all species.
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Sci Rep. 2016 Jul 29;6:30595. doi: 10.1038/srep30595.
eSNPO: An eQTL-based SNP Ontology and SNP functional enrichment analysis platform.
Li J, Wang L, Jiang T, Wang J, Li X, Liu X, Wang C, Teng Z, Zhang R, Lv H, Guo M.