在多个非洲人口样本中,转录学和染色质可访问性
Marianne K DeGorter1, Page C Goddard2, Emre Karakoc3
1Department of Pathology, Stanford University, Stanford, CA.
bioRxiv : the preprint server for biology
|November 21, 2023
概括
这项研究通过分析非洲人口来扩展功能性基因组数据,以发现影响基因表达和染色质可访问性的新型转录和遗传变异,帮助疾病研究.
科学领域:
- 基因组学就是基因组学.
- 人口遗传学 人口遗传学
- 分子生物学分子生物学
背景情况:
- 功能性基因组映射受到欧洲中心数据的限制.
- 了解基因变异对不同种群的影响至关重要.
研究的目的:
- 使用非洲人口样本扩展功能性基因组数据.
- 识别影响基因表达和染色质可访问性的新型转录和遗传变异.
主要方法:
- 来自6个非洲人群中的599个个体的淋巴细胞细胞系 (LCL) 的RNA测序.
- 全基因组测序和ATAC-Seq用于染色体可访问性概况.
- 表达的识别 (eQTLs),拼接 (sQTLs) 和染色体可访问性 (caQTLs) 定量特征位置.
主要成果:
- 发现了在hg38参考基因组中不存在的新型转录.
- 识别了成千上万的eQTL,sQTL和SV-eQTL以及caQTL.
- 数百万个变异对染色质可访问性的预测功能影响.
结论:
- 这项工作增强了全球功能基因组数据集,特别是非洲祖先.
- 提供了关于分子定量特征定位的种群遗传史的见解.
- 促进复杂疾病的GWAS信号的精细映射,并解决人类特征的遗传基础.
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