Enlight：基于网络的全基因组关联研究结果与生物学注释的整合
Enlight: web-based integration of GWAS results with biological annotations.
作者信息
Guo Yunfei, Conti David V, Wang Kai
机构信息
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 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.
出版信息
Bioinformatics. 2015 Jan 15;31(2):275-6. doi: 10.1093/bioinformatics/btu639. Epub 2014 Sep 26.
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.
未标注
在全基因组关联研究（GWAS）时代，识别因果变异仍然是一个关键挑战，因为许多GWAS单核苷酸多态性（SNP，包括推算出的SNP）位于非编码区域，这使得难以将统计显著性与预测的功能联系起来。因此，我们创建了一个基于网络的工具Enlight，它将功能注释信息（如组蛋白修饰状态、甲基化模式、转录因子结合位点、表达数量性状基因座和高阶染色体结构）叠加到GWAS结果上。
可用性和实现方式
可通过网页浏览器访问http://enlight.usc.edu 。
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