scRiskDB: a single-cell epigenomic resource linking complex traits to regulatory mechanisms across human tissues.

IF 2.7 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY
Gefei Zhao, Xianfeng Ping, Binbin Lai
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引用次数: 0

Abstract

Understanding the regulatory impact of non-coding genetic variants remains a major challenge in human genetics. Here, we present scRiskDB, a comprehensive and user-friendly database that maps genetic risk variants to their downstream regulatory elements, target genes, and relevant cell types at single-cell resolution. By integrating genome-wide association studies (GWAS) with single-cell datasets across 45 tissues and developmental stages, scRiskDB implements a variant-to-function framework that systematically outlines potential regulatory cascades from single nucleotide variants to cell-specific risk mechanisms. This multi-layered design allows users to explore trait-associated regulatory architectures across cell types and developmental stages. The platform provides interactive, multi-level visualizations and curated results, facilitating hypothesis generation and mechanistic insights into disease aetiology.

scRiskDB:一个单细胞表观基因组资源,将复杂性状与人体组织的调节机制联系起来。
了解非编码遗传变异的调控影响仍然是人类遗传学的主要挑战。在这里,我们提出了scRiskDB,这是一个全面且用户友好的数据库,可以在单细胞分辨率下将遗传风险变异映射到其下游调控元件、靶基因和相关细胞类型。通过整合全基因组关联研究(GWAS)和跨越45个组织和发育阶段的单细胞数据集,scRiskDB实现了一个从变异到功能的框架,系统地概述了从单核苷酸变异到细胞特异性风险机制的潜在调控级联。这种多层设计允许用户探索跨细胞类型和发育阶段的性状相关的调控体系结构。该平台提供交互式的、多层次的可视化和精心策划的结果,促进了对疾病病因的假设生成和机制见解。
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来源期刊
Database: The Journal of Biological Databases and Curation
Database: The Journal of Biological Databases and Curation MATHEMATICAL & COMPUTATIONAL BIOLOGY-
CiteScore
9.00
自引率
3.40%
发文量
100
审稿时长
>12 weeks
期刊介绍: Huge volumes of primary data are archived in numerous open-access databases, and with new generation technologies becoming more common in laboratories, large datasets will become even more prevalent. The archiving, curation, analysis and interpretation of all of these data are a challenge. Database development and biocuration are at the forefront of the endeavor to make sense of this mounting deluge of data. Database: The Journal of Biological Databases and Curation provides an open access platform for the presentation of novel ideas in database research and biocuration, and aims to help strengthen the bridge between database developers, curators, and users.
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