Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Nucleic Acids Res. 2020 Jan 8;48(D1):D1022-D1030. doi: 10.1093/nar/gkz957.
Assessing the causal tissues of human traits and diseases is important for better interpreting trait-associated genetic variants, understanding disease etiology, and improving treatment strategies. Here, we present a reference database for trait-associated tissue specificity based on genome-wide association study (GWAS) results, named Tissue-Specific Enrichment Analysis DataBase (TSEA-DB, available at https://bioinfo.uth.edu/TSEADB/). We collected GWAS summary statistics data for a wide range of human traits and diseases followed by rigorous quality control. The current version of TSEA-DB includes 4423 data sets from the UK Biobank (UKBB) and 596 from other resources (GWAS Catalog and literature mining), totaling 5019 unique GWAS data sets and 15 770 trait-associated gene sets. TSEA-DB aims to provide reference tissue(s) enriched with the genes from GWAS. To this end, we systematically performed a tissue-specific enrichment analysis using our recently developed tool deTS and gene expression profiles from two reference tissue panels: the GTEx panel (47 tissues) and the ENCODE panel (44 tissues). The comprehensive trait-tissue association results can be easily accessed, searched, visualized, analyzed, and compared across the studies and traits through our web site. TSEA-DB represents one of the many timely and comprehensive approaches in exploring human trait-tissue association.
评估人类特征和疾病的因果组织对于更好地解释与特征相关的遗传变异、了解疾病病因和改进治疗策略非常重要。在这里，我们展示了一个基于全基因组关联研究 (GWAS) 结果的与特征相关的组织特异性参考数据库，命名为组织特异性富集分析数据库 (TSEA-DB，可在 https://bioinfo.uth.edu/TSEADB/ 获得)。我们收集了广泛的人类特征和疾病的 GWAS 汇总统计数据，并进行了严格的质量控制。目前的 TSEA-DB 版本包括来自英国生物银行 (UKBB) 的 4423 个数据集和来自其他资源 (GWAS 目录和文献挖掘) 的 596 个数据集，总计 5019 个独特的 GWAS 数据集和 15770 个与特征相关的基因集。TSEA-DB 旨在提供富含 GWAS 基因的参考组织。为此，我们使用我们最近开发的工具 deTS 系统地进行了组织特异性富集分析，并使用两个参考组织面板的基因表达谱：GTEx 面板 (47 个组织) 和 ENCODE 面板 (44 个组织)。通过我们的网站，可以轻松访问、搜索、可视化、分析和比较跨研究和特征的综合特征-组织关联结果。TSEA-DB 代表了探索人类特征-组织关联的许多及时和全面的方法之一。
