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通过对纳米孔长读序列的原生CpG甲基化进行特征化,精细绘制调节变异

Yijun Tian¹, Shannon K McDonnell², Lang Wu³

¹Department of Tumor Microenvironment and Metastasis, Moffitt Cancer Center, Tampa, FL 33612, USA.

|October 19, 2025

概括

纳米孔长读数测序克服了人类甲基形状的短读数限制. 这种方法可以进行长距离的联合甲基化分析,并识别异位基因特异性甲基化,这对于理解非编码变异影响至关重要.

科学领域:

基因组学就是基因组学.
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.
分子生物学分子生物学

背景情况:

5-甲基细胞素 (5mC) 是人类基因组中的一个关键的表观遗传标记.
对于5mC检测的短读测序具有诸如PCR偏差和有限的长距离分析等局限性.
纳米孔长读测序为这些挑战提供了潜在的解决方案.

研究的目的:

使用纳米孔长读序列测序对人类甲基组进行分析.
进行远程联合甲基化分析并识别甲基化单元型块 (MHBs).
调查与蛋白质结合和非编码遗传变异相关的表观遗传变化.

主要方法:

适应性采样纳米孔长读测序针对CpG岛屿和mQTL/GWAS区域.
链接不平衡 (LD) R2分析以确定MHBs.
与ATAC-seq数据的整合,以评估等位基特异性可访问性.

主要成果:

与正常细胞相比,癌症基因组显示较小的MHB和较低的甲基化LD R2.
长读数测序有效地捕获大型MHB,优于短读数方法.
确定了基因基因特异性甲基化和GWAS风险变体附近的可访问性.

结论:

纳米孔测序是可行的全面的甲基组概况,保存单元型信息.
这种方法为非编码变异驱动的表观遗传修饰提供了新的见解.
能够详细分析癌症和其他疾病中的表观遗传调节.

关键词:

在CTCF中,CTCF是指CTCF.通过DNA甲基化.适应性采样采样方式双硫酸盐序列测序双硫酸盐序列测序 mQTLTL 是一个很好的方法.纳米孔长读序列测序前列腺癌是前列腺癌.需要 rs7247241 的

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