title: eSNPO: An eQTL-based SNP Ontology and SNP functional enrichment analysis platform.
abstract: Genome-wide association studies (GWASs) have mined many common genetic variants associated with human complex traits like diseases. After that, the functional annotation and enrichment analysis of significant SNPs are important tasks. Classic methods are always based on physical positions of SNPs and genes. Expression quantitative trait loci (eQTLs) are genomic loci that contribute to variation in gene expression levels and have been proven efficient to connect SNPs and genes. In this work, we integrated the eQTL data and Gene Ontology (GO), constructed associations between SNPs and GO terms, then performed functional enrichment analysis. Finally, we constructed an eQTL-based SNP Ontology and SNP functional enrichment analysis platform. Taking Parkinson Disease (PD) as an example, the proposed platform and method are efficient. We believe eSNPO will be a useful resource for SNP functional annotation and enrichment analysis after we have got significant disease related SNPs.
authors.affiliation: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.|School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang, China.|School of Life Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Li
authors.affiliation: School of Basic Medical Sciences, Harbin Medical University, Harbin, Heilongjiang, China.|College of automation, Harbin Engineering University, Harbin, Heilongjiang, China.
authors.forename: Limei
authors.initials: L
authors.lastname: Wang
authors.affiliation: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Jiang
authors.affiliation: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Jizhe
authors.initials: J
authors.lastname: Wang
authors.affiliation: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Li
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang, China.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Liu
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang, China.
authors.forename: Chunyu
authors.initials: C
authors.lastname: Wang
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang, China.
authors.forename: Zhixia
authors.initials: Z
authors.lastname: Teng
authors.affiliation: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Ruijie
authors.initials: R
authors.lastname: Zhang
authors.affiliation: College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang, China.
authors.forename: Hongchao
authors.initials: H
authors.lastname: Lv
authors.affiliation: School of Computer Science and Technology, Harbin Institute of Technology, Harbin, Heilongjiang, China.
authors.forename: Maozu
authors.initials: M
authors.lastname: Guo
mesh_terms: D030561:Databases, Nucleic Acid; D063990:Gene Ontology; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D012984:Software