{"title":"scRiskDB: a single-cell epigenomic resource linking complex traits to regulatory mechanisms across human tissues.","authors":"Gefei Zhao, Xianfeng Ping, Binbin Lai","doi":"10.1093/database/baag048","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":10923,"journal":{"name":"Database: The Journal of Biological Databases and Curation","volume":"2026 ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2026-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13439126/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Database: The Journal of Biological Databases and Curation","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1093/database/baag048","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MATHEMATICAL & COMPUTATIONAL BIOLOGY","Score":null,"Total":0}
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.
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.