Jiangsu Key Laboratory of Sericultural Biology and Biotechnology, School of Biotechnology, Jiangsu University of Science and Technology, Zhenjiang, China.
Institute of Modern Biology, Nanjing University, Nanjing, China.
Commun Biol. 2024 Sep 28;7(1):1205. doi: 10.1038/s42003-024-06833-y.
Understanding the molecular mechanisms underlying genetic diseases is challenging due to environmental and genetic factors. Genome-wide association studies (GWAS) have identified numerous genetic loci, but their functional implications are largely unknown. Single-cell multiomics sequencing has emerged as a powerful tool to study disease-specific cell types and their relationship with genetic variants. However, comprehensive databases for exploring these mechanisms across different tissues are lacking. We present the Disease-Related Cell Type database (DRCTdb), integrating GWAS and single-cell multiomics data to identify disease-related cell types and elucidate their regulatory mechanisms. DRCTdb contains well-processed data from 16 studies, covering 4 million cells within 28 tissues. Users can browse relationships and regulatory mechanisms between SNPs of 42 genetic diseases and cell types based on GWAS and single-cell data. DRCTdb also offers data downloads and is available at https://singlecellatlas.top/DRCTDB .
由于环境和遗传因素的影响，理解遗传疾病的分子机制具有挑战性。全基因组关联研究（GWAS）已经确定了许多遗传位点，但它们的功能意义在很大程度上尚不清楚。单细胞多组学测序已成为研究特定疾病细胞类型及其与遗传变异关系的强大工具。然而，缺乏用于探索这些机制的全面数据库。我们展示了疾病相关细胞类型数据库（DRCTdb），该数据库整合了 GWAS 和单细胞多组学数据，以识别与疾病相关的细胞类型并阐明其调控机制。DRCTdb 包含来自 16 项研究的经过良好处理的数据，涵盖了 28 种组织中的 400 万个细胞。用户可以根据 GWAS 和单细胞数据浏览 42 种遗传疾病和细胞类型之间的 SNPs 之间的关系和调控机制。DRCTdb 还提供数据下载，网址为 https://singlecellatlas.top/DRCTDB。
