ArticleScientific reports2016
eSNPO: An eQTL-based SNP Ontology and SNP functional enrichment analysis platform.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed.
- Investigating Causality Between Blood Metabolites and Emotional and Behavioral Responses to Traumatic Stress: a Mendelian Randomization Study.Molecular neurobiology · 2020Trial
- Review
- Single molecule in situ hybridization reveals distinct localizations of schizophrenia risk-related transcripts SNX19 and AS3MT in human brain.Molecular psychiatry · 2021Article
- Interpreting Functional Impact of Genetic Variations by Network QTL for Genotype-Phenotype Association Study.Frontiers in cell and developmental biology · 2021Article
- MutEx: a multifaceted gateway for exploring integrative pan-cancer genomic data.Briefings in bioinformatics · 2020Article
- Regulatory annotation of genomic intervals based on tissue-specific expression QTLs.Bioinformatics (Oxford, England) · 2020Article
- Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits.Genome medicine · 2018Article
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11 authors.
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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.
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