LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation
LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation
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DOI：
10.1093/bioinformatics/btx561
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发表时间：
2018-03-01
期刊：
影响因子：
5.8
通讯作者：
Chanock, Stephen J.
中科院分区：
文献类型：
--
作者：
Machiela, Mitchell J.;Chanock, Stephen J.
现有的绘制全基因组关联研究（GWAS）关联结果的方法是静态的曼哈顿图的形式，往往缺乏与丰富的数据库的数据集成的变化的监管潜力，以及人口特异性连锁不平衡patterns.We创建了一个直观的Web模块上传和有效地探索GWAS关联结果。交互式图和可排序表使研究人员能够查询感兴趣的基因组区域，促进连锁不平衡，变异调控潜力和潜在靶基因的数据整合。外部链接允许在UCSC基因组浏览器中可视化关联结果，以及轻松访问化学上可用的数据库（例如dbSNP和RegulomeDB）。通过改进的可视化和数据集成，LDasktop为基因组研究人员提供了一个专门的环境来检查关联信号，并为功能研究提出变体。LDasktop是一个免费的网络工具，可在https://analysistools.nci.nih.gov/LDlink/?在线访问tab= ldas。
Existing approaches to plot association results from genome-wide association studies (GWAS) are in the form of static Manhattan plots and often lack data integration with rich databases on variant regulatory potential as well as population-specific linkage disequilibrium patterns.We created an intuitive web module for uploading and efficiently exploring GWAS association results. Interactive plots and sortable tables allow researchers to query genomic regions of interest, facilitating the integration of data on linkage disequilibrium, variant regulatory potential and potential target genes. External links allow for visualization of association results in the UCSC genome browser as well as easy access to publically available databases (e.g. dbSNP and RegulomeDB). Through improved visualization and data integration, LDassoc offers genomic researchers a specialized environment to examine association signals and suggests variants for functional investigation.LDassoc is a free and publically available web tool which can be accessed online at https://analysistools.nci.nih.gov/LDlink/? tab=ldassoc.