Work

Enlight: web-based integration of GWAS results with biological annotations

Year: 2014

Type: article

Abstract: UNLABELLED: Identifying causal variants remains a key challenge in post-GWAS (genome-wide association study) era, as many GWAS single-nucleotide polymorphisms (SNPs) (including imputed ones) fall into non-coding regions, making it difficult to associate statistical significance with predicted functionality. Therefore, we created a web-based tool, Enlight, which overlays functional annotation information, such as histone modification states, methylation patterns, transcription factor binding sites, eQTL and higher-order chromosomal structure, to GWAS results. AVAILABILITY AND IMPLEMENTATION: Accessible by a Web browser at http://enlight.usc.edu.

Source: Bioinformatics

DOI: 10.1093/bioinformatics/btu639

Authors: Yunfei Guo, David V Conti, Kai Wang

Institution: University of Southern California

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Wellcome Trust, National Human Genome Research Institute