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

Yunfei Guo; David V Conti; Kai Wang

doi:10.1093/bioinformatics/btu639

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

Bioinformatics. 2015 Jan 15;31(2):275-6. doi: 10.1093/bioinformatics/btu639. Epub 2014 Sep 26.

Authors

Yunfei Guo¹, David V Conti¹, Kai Wang²

Affiliations

¹ Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA 90033, Department of Preventive Medicine, USC Keck School of Medicine, Los Angeles, CA 90032 and Department of Psychiatry & Behavioral Sciences, USC Keck School of Medicine, Los Angeles, CA 90033, USA Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA 90033, Department of Preventive Medicine, USC Keck School of Medicine, Los Angeles, CA 90032 and Department of Psychiatry & Behavioral Sciences, USC Keck School of Medicine, Los Angeles, CA 90033, USA.
² Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA 90033, Department of Preventive Medicine, USC Keck School of Medicine, Los Angeles, CA 90032 and Department of Psychiatry & Behavioral Sciences, USC Keck School of Medicine, Los Angeles, CA 90033, USA Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA 90033, Department of Preventive Medicine, USC Keck School of Medicine, Los Angeles, CA 90032 and Department of Psychiatry & Behavioral Sciences, USC Keck School of Medicine, Los Angeles, CA 90033, USA Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA 90033, Department of Preventive Medicine, USC Keck School of Medicine, Los Angeles, CA 90032 and Department of Psychiatry & Behavioral Sciences, USC Keck School of Medicine, Los Angeles, CA 90033, USA.

Abstract

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.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Arthritis, Rheumatoid / genetics*
Databases, Genetic
Genome, Human
Genome-Wide Association Study*
Genomics / methods*
Humans
Internet
Molecular Sequence Annotation*
Polymorphism, Single Nucleotide / genetics*
Quantitative Trait Loci
Software*

Grants and funding

R01 HG006465/HG/NHGRI NIH HHS/United States