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目标基因:针对遗传变异的细胞类型特定目标基因的综合数据库

Shiqi Lin^1,2, Song Wu^2,3, Wei Zhao^2,3

¹CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation, Beijing 100101, China.

Nucleic acids research

|October 23, 2023

概括

目标基因是一个新的数据库,它使用多omics数据将人类遗传变异与其目标基因联系起来. 该资源有助于研究人员了解复杂疾病的遗传机制.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
生物信息学是一种生物信息学.

背景情况:

鉴定基因变异的目标基因对于理解复杂疾病至关重要.
具有特定情境效应的非编码变体在基因注释方面带来了挑战.
现有的资源可能缺乏用于变异对基因映射的综合多omics数据.

研究的目的:

介绍TargetGene,这是一个全面的数据库,用于对人类遗传变异及其目标基因进行注释.
为探索复杂特征遗传变异的调控机制提供资源.
为了促进单核酸多态 (SNP) - - 基因连接的识别.

主要方法:

收集了人类组织,细胞类型和发育阶段的单细胞和批量级别的多omics数据.
开发了整合色素共同可访问性,3D相互作用,增强剂活动和定量特征定位的分析工具.
应用管道分析了近1300个全基因组关联研究 (GWAS) 的变异.

主要成果:

编制了一本关于多尺度遗传变异调控的综合图谱.
建立了一个数据库 (TargetGene),将遗传变异与来自不同数据源的目标基因联系起来.
展示了用户友好的网络界面,用于直观的数据探索和浏览.

结论:

目标基因为研究人员提供了一个独特的资源,研究复杂的人类特征中的遗传变异调节.
数据库有助于发现因果变异和潜在的遗传机制.
整合多omics数据可以提高SNP-to-gene注释的准确性.

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