亚硫酸氢盐测序
单分子实时测序
DNA甲基化
生物
背景(考古学)
基因组
DNA测序
DNA
计算生物学
照明菌甲基化试验
基因
遗传学
DNA测序器
基因表达
古生物学
作者
O Y Olivia Tse,Peiyong Jiang,Suk Hang Cheng,Wenlei Peng,Huimin Shang,John Wong,Stephen L. Chan,Liona C. Poon,Tak Yeung Leung,K C Allen Chan,Rossa W.K. Chiu,Y.M. Dennis Lo
出处
期刊:Proceedings of the National Academy of Sciences
日期:2021-01-25
卷期号:118 (5)
被引量:49
标识
DOI:10.1073/pnas.2019768118
摘要
Significance Single molecule real-time (SMRT) sequencing theoretically offers the opportunity to directly assess certain base modifications of native DNA molecules without any prior chemical/enzymatic conversions and PCR amplification, using kinetic signals of a DNA polymerase. However, the kinetic signal changes caused by 5mC modification are extremely subtle. Hence, the robust genome-wide measurement of 5mC modification has not been achieved. We enhanced 5mC detection using SMRT sequencing by holistically analyzing kinetic signals of a DNA polymerase and sequence context for every base within a measurement window. We employed a convolutional neural network to train a methylation classification model, leading to genome-wide 5mC detection. The sensitivity and specificity reached 90% and 94%, with a 99% correlation of overall methylation level with bisulfite sequencing.
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