CREdb:Cis调节元件及其在人体细胞和组织中的活性的综合数据库
Chris Hartl1, Jiali Zhuang2, Aaron Tyler1
1Rancho BioSciences LLC, San Diego, California, USA.
Epigenetics & chromatin
|July 16, 2024
概括
本研究介绍了CREdb,这是一个包含超过1000万个人类cis-regulatory元素 (CREs) 的综合数据库. CREdb统一了来自多个来源的数据,有助于分析基因调节和疾病研究的非编码基因变异.
科学领域:
- 基因组学和分子生物学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 生物信息学是一种生物信息学.
背景情况:
- 细胞调节元件 (CREs) 对于基因表达,细胞功能和对刺激的反应至关重要.
- 了解CREs对于个性化医学和疾病研究至关重要,因为它们与疾病相关的遗传变异重叠.
- 现有的数据库缺乏对CREs的全面视图,经常呈现单个元素,阻碍了整体分析.
研究的目的:
- 开发CREdb,一个统一和全面的数据库的人类cis-regulatory元素.
- 协调和整合来自不同来源的数据,以全面了解CREs.
- 为了促进对基因调节,疾病研究和个性化医学的CREs的分析.
主要方法:
- 从11个来源收集和映射数据,对细胞类型和组织进行标准的本体学术语.
- 整合了来自各种数据源的超过1100万个人类调节元件.
- 通过合并重叠的单个元素来生成共识元素,保留支持元数据和源链接.
主要成果:
- CREdb包含5,666,240个共识元素,这些共识元素来自超过1100万个初始条目,涵盖1,058种细胞类型和315种组织.
- 每个共识元素包括支持实例的元数据和源数据库的链接.
- 提供了不同细胞和组织环境中的共识元素的推断活动,证明了在变异注释和染色体分析中的实用性.
结论:
- CREdb提供了一个统一的框架,以简化对cis-regulatory元素的分析.
- 数据库将信息集成到共识范围中,方便非编码变体的功能注释.
- CREdb是推动表观基因组研究和理解其在人类疾病中的作用的宝贵资源.
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