TSEA-DB: a trait tissue association map for human complex traits and diseases
TSEA-DB: a trait tissue association map for human complex traits and diseases
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DOI：
10.1093/nar/gkz957
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发表时间：
2020-01-08
影响因子：
14.9
通讯作者：
Zhao, Zhongming
中科院分区：
文献类型：
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作者：
Jia, Peilin;Dai, Yulin;Zhao, Zhongming
评估人类性状和疾病的因果组织对于更好地解释性状相关的遗传变异、了解疾病病因和改进治疗策略非常重要。在这里，我们提出了一个基于全基因组关联研究（GWAS）结果的性状相关组织特异性参考数据库，名为组织特异性富集分析数据库（TSEA-DB，可在https://bioinfo.uth.edu/TSEADB/上获得）。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。目前版本的TSEA-DB包括来自UK Biobank （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，共计5019个独特的GWAS数据集和15770个特征相关基因集。TSEA-DB旨在提供富含GWAS基因的参比组织。为此，我们系统地使用我们最近开发的工具deTS和来自两个参考组织面板的基因表达谱进行了组织特异性富集分析：GTEx面板（47个组织）和ENCODE面板（44个组织）。通过我们的网站，可以很容易地访问、搜索、可视化、分析和比较所有研究和性状的综合性状-组织关联结果。TSEA-DB是探索人类性状与组织关联的众多及时而全面的方法之一。
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.