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An information-theoretic approach to the modeling and analysis of whole-genome bisulfite sequencing data

机译:全基因组亚硫酸氢盐测序数据建模和分析的信息理论方法

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摘要

BackgroundDNA methylation is a stable form of epigenetic memory used by cells to control gene expression. Whole genome bisulfite sequencing (WGBS) has emerged as a gold-standard experimental technique for studying DNA methylation by producing high resolution genome-wide methylation profiles. Statistical modeling and analysis is employed to computationally extract and quantify information from these profiles in an effort to identify regions of the genome that demonstrate crucial or aberrant epigenetic behavior. However, the performance of most currently available methods for methylation analysis is hampered by their inability to directly account for statistical dependencies between neighboring methylation sites, thus ignoring significant information available in WGBS reads.
机译:背景技术DNA甲基化是表观遗传记忆的稳定形式,细胞用于控制基因表达。全基因组亚硫酸氢盐测序(WGBS)已成为通过产生高分辨率全基因组甲基化图谱来研究DNA甲基化的金标准实验技术。统计建模和分析被用于从这些配置文件中计算地提取和量化信息,以努力确定基因组中显示出关键或异常表观遗传行为的区域。但是,由于无法直接考虑相邻甲基化位点之间的统计依赖性,因此妨碍了当前最有效的甲基化分析方法的性能,因此忽略了WGBS阅读中可用的重要信息。

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