Efficiently quantifying DNA methylation for bulk- and single-cell bisulfite data.

Efficiently quantifying DNA methylation for bulk- and single-cell bisulfite data.
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DOI:
10.1093/bioinformatics/btad386
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发表时间:
2023-06-01
期刊:
Bioinformatics (Oxford, England)
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DNA CpG甲基化(CpGm)已被证明是哺乳动物基因调控系统中一个重要的表观遗传因子。然而,通过全基因组亚硫酸氢盐测序(WGBS)评估DNA CpG甲基化值在计算上要求极高。我们提出了FAst甲基化调用(FAME),这是第一种直接从批量或单细胞WGBS读数中量化CpGm值的方法,无需中间输出文件。FAME非常快,但与标准方法一样准确,标准方法在计算CpGm值之前首先产生BS比对文件。我们在批量和单细胞亚硫酸氢盐数据集上进行了实验,在这些实验中,我们表明数据分析可以显着加快,并有助于解决当前大规模数据集的WGBS分析瓶颈,而不会影响准确性。FAME的实现是开源的,并在GPL-3.0下许可,网址为https://github.com/FischerJo/FAME。
DNA CpG methylation (CpGm) has proven to be a crucial epigenetic factor in the mammalian gene regulatory system. Assessment of DNA CpG methylation values via whole-genome bisulfite sequencing (WGBS) is, however, computationally extremely demanding. We present FAst MEthylation calling (FAME), the first approach to quantify CpGm values directly from bulk or single-cell WGBS reads without intermediate output files. FAME is very fast but as accurate as standard methods, which first produce BS alignment files before computing CpGm values. We present experiments on bulk and single-cell bisulfite datasets in which we show that data analysis can be significantly sped-up and help addressing the current WGBS analysis bottleneck for large-scale datasets without compromising accuracy. An implementation of FAME is open source and licensed under GPL-3.0 at https://github.com/FischerJo/FAME.
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