Enlight: web-based integration of GWAS results with biological annotations.
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- Record sourced from PubMed, PMID 25262152.
- Also identified by DOI 10.1093/bioinformatics/btu639 and PMC identifier 4287951.
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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. Accessible by a Web browser at http://enlight.usc.edu.
Medical subject headings
- Arthritis, Rheumatoid
- Genome-Wide Association Study
- Genomics
- Molecular Sequence Annotation
- Polymorphism, Single Nucleotide
- Software