Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Institute of Human Genetics, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Genome Med. 2020 Jun 24;12(1):54. doi: 10.1186/s13073-020-00750-5.
Cell-free DNA (cfDNA) analysis has become essential in cancer diagnostics and prenatal testing. We present cfNOMe, a two-in-one method of measuring cfDNA cytosine methylation and nucleosome occupancy in a single assay using non-disruptive enzymatic cytosine conversion and a custom bioinformatic pipeline. We show that enzymatic cytosine conversion better preserves cfDNA fragmentation information than does bisulfite conversion. Whereas previously separate experiments were required to study either epigenetic marking, cfNOMe delivers reliable results for both, enabling more comprehensive and inexpensive epigenetic cfDNA profiling. cfNOMe has the potential to advance biomarker discovery and diagnostic usage in diseases with systemic perturbations of cfDNA composition.
无细胞游离 DNA（cfDNA）分析已成为癌症诊断和产前检测的重要手段。我们提出了 cfNOMe 方法，这是一种在单个测定中同时测量 cfDNA 胞嘧啶甲基化和核小体占有率的双管齐下的方法，它使用非破坏性的酶促胞嘧啶转化和定制的生物信息学管道。我们表明，酶促胞嘧啶转化比亚硫酸氢盐转化更好地保留了 cfDNA 片段化信息。以前需要进行单独的实验来研究这两种方法，而 cfNOMe 可以同时提供可靠的结果，从而实现更全面和更经济的表观遗传 cfDNA 分析。cfNOMe 有可能在 cfDNA 组成受到系统性干扰的疾病中推进生物标志物的发现和诊断应用。
