Database of Immune Cell Expression, Expression quantitative trait loci and Epigenomics (DICE)

The DICE (Database of Immune Cell Expression, Expression quantitative trait loci (eQTLs) and Epigenomics) project aims to understand the role of common genetic variations in human disease by (i) generating reference transcriptomic and epigenomic maps in human immune cell types from healthy subjects, (ii) identifying functional single nucleotide polymorphisms (SNPs) that affect gene expression (eQTLs and chromatin QTLs) in immune cells, and (iii) identifying regulatory mechanisms and novel target genes implicated in the development of human disease. These datasets will help reveal the effects of disease risk-associated genetic polymorphisms on specific immune cell types, providing mechanistic insights into pathogenesis.免疫细胞表达、表达数量性状基因座与表观基因组学数据库（Database of Immune Cell Expression, Expression quantitative trait loci (eQTLs) and Epigenomics，简称DICE）项目旨在阐明常见遗传变异在人类疾病中的作用，具体通过以下三项研究内容实现：（1）构建健康受试者体内各类人类免疫细胞类型的参考转录组与表观基因组图谱；（2）鉴定免疫细胞中影响基因表达的功能性单核苷酸多态性（SNPs），即表达数量性状基因座（eQTLs）与染色质QTLs；（3）识别与人类疾病发生发展相关的调控机制及新型靶基因。本系列数据集将助力揭示疾病风险相关遗传多态性对特定免疫细胞类型的调控效应，为疾病发病机制提供机制性的深入见解。

搜集汇总

背景与挑战

背景概述

DICE数据库旨在探究常见遗传变异在人类疾病中的作用，通过生成健康受试者免疫细胞的转录组和表观基因组参考图谱，并识别影响基因表达的功能性SNPs。该数据集包含来自血液和肺组织的免疫细胞数据，涵盖多种细胞类型和疾病类别，以揭示疾病风险相关遗传变异对特定免疫细胞类型的影响机制。