Department of Electrical Engineering and Computer Science, University of Cincinnati, Cincinnati, OH, USA.
Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.
Bioinformatics. 2018 Sep 15;34(18):3160-3168. doi: 10.1093/bioinformatics/bty182.
Advances in high-throughput sequencing technologies have made it possible to generate multiple omics data at an unprecedented rate and scale. The accumulation of these omics data far outpaces the rate at which biologists can mine and generate new hypothesis to test experimentally. There is an urgent need to develop a myriad of powerful tools to efficiently and effectively search and filter these resources to address specific post-GWAS functional genomics questions. However, to date, these resources are scattered across several databases and often lack a unified portal for data annotation and analytics. In addition, existing tools to analyze and visualize these databases are highly fragmented, resulting researchers to access multiple applications and manual interventions for each gene or variant in an ad hoc fashion until all the questions are answered.
In this study, we present GENEASE, a web-based one-stop bioinformatics tool designed to not only query and explore multi-omics and phenotype databases (e.g. GTEx, ClinVar, dbGaP, GWAS Catalog, ENCODE, Roadmap Epigenomics, KEGG, Reactome, Gene and Phenotype Ontology) in a single web interface but also to perform seamless post genome-wide association downstream functional and overlap analysis for non-coding regulatory variants. GENEASE accesses over 50 different databases in public domain including model organism-specific databases to facilitate gene/variant and disease exploration, enrichment and overlap analysis in real time. It is a user-friendly tool with point-and-click interface containing links for support information including user manual and examples.
GENEASE can be accessed freely at http://research.cchmc.org/mershalab/GENEASE/login.html.
Supplementary data are available at Bioinformatics online.
高通量测序技术的进步使得以空前的速度和规模生成多个组学数据成为可能。这些组学数据的积累速度远远超过了生物学家挖掘和生成新假设以进行实验验证的速度。因此,迫切需要开发大量强大的工具,以便有效地搜索和筛选这些资源,以解决特定的 GWAS 后功能基因组学问题。然而,迄今为止,这些资源分散在几个数据库中,并且通常缺乏用于数据注释和分析的统一门户。此外,现有的分析和可视化这些数据库的工具高度分散,导致研究人员以特定的方式访问多个应用程序和手动干预,以回答每个基因或变体的所有问题。
在这项研究中,我们提出了 GENEASE,这是一种基于网络的一站式生物信息学工具,旨在不仅查询和探索多组学和表型数据库(例如 GTEx、ClinVar、dbGaP、GWAS Catalog、ENCODE、Roadmap Epigenomics、KEGG、Reactome、Gene 和 Phenotype Ontology),还可以对非编码调控变体进行无缝的全基因组关联下游功能和重叠分析。GENEASE 访问了 50 多个公共领域的不同数据库,包括特定于模型生物的数据库,以方便实时进行基因/变体和疾病探索、富集和重叠分析。它是一个用户友好的工具,具有点击式界面,包含支持信息的链接,包括用户手册和示例。
GENEASE 可在 http://research.cchmc.org/mershalab/GENEASE/login.html 上免费访问。
补充数据可在 Bioinformatics 在线获得。