Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts

The Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts (DBKERO) stores transcriptome information with a catalogue of genomic variations including public SNP data and epigenome information to enable further in-depth analyses on the disease-causing molecular mechanisms. Recent additions include genomic variation datasets and epigenome variation datasets focusing on the Japanese population. These datasets were collected as a series of genome-wide association studies and as part of International Human Epigenome Consortium (IHEC) projects. The goal is to have this database serve as a model case for the genomic, epigenomic and transcriptomic variations occurring in particular ethnic backgrounds and underlying various diseases. Clinical samples data were also associated with data from various model systems such as drug perturbation datasets using cultured cancer cells.柏崎百科人类基因组调控区域突变及其组学背景数据库（DBKERO）存储转录组信息，以及包含公共单核苷酸多态性（SNP）数据在内的基因组变异目录与表观基因组信息，为疾病致病分子机制的深入解析提供有力支撑。近期新增了聚焦日本人群的基因组变异数据集与表观基因组变异数据集。上述数据集源自一系列全基因组关联研究，同时也是国际人类表观基因组联盟（International Human Epigenome Consortium, IHEC）项目的组成部分。该数据库的目标是成为针对特定种族背景下发生、且与多种疾病相关的基因组、表观基因组与转录组变异的参考范式。此外，临床样本数据还与各类模型系统的数据实现了关联，例如基于培养癌细胞构建的药物扰动数据集。

搜集汇总

背景与挑战

背景概述

DBKERO是一个存储人类基因组调控区域突变及相关多组学信息的数据集，整合了转录组、基因组变异和表观基因组数据，特别包含日本人群的基因组和表观基因组变异数据。该数据库旨在支持疾病分子机制的深入分析，并作为特定种族背景中基因组、表观组和转录组变异的模型案例。