METHODS: Currently, no tools to analyze DNA methylation patterns at known clinically relevant imprinted regions are available. Here we present NanoImprint, which generates an easily interpretable report, based on long-read nanopore sequencing, to use for identifying clinical relevant abnormalities in methylation levels at 14 imprinted regions and diagnosis of common imprinting disorders.
CONCLUSIONS: NanoImprint outputs a summarizing table and visualization plots displays methylation frequency (%) and chromosomal positions for all regions, with phased data color-coded for the two alleles. We demonstrate the utility of NanoImprint using three imprinting disorder samples from patients with Beckwith-Wiedemann syndrome (BWS), Angelman syndrome (AS) and Prader-Willi syndrome (PWS). NanoImprint script is available from https://github.com/carolinehey/NanoImprint.
方法:目前,目前尚无工具可用于分析已知临床相关印迹区域的DNA甲基化模式.这里我们介绍纳米印记,生成一个易于解释的报告,基于长读纳米孔测序,用于鉴定14个印记区域甲基化水平的临床相关异常和常见印记障碍的诊断。
结论:NanoImprint输出汇总表,可视化图显示所有区域的甲基化频率(%)和染色体位置,对两个等位基因进行颜色编码的分阶段数据。我们使用来自Beckwith-Wiedemann综合征(BWS)患者的三个印记障碍样本证明了NanoIprint的实用性,Angelman综合征(AS)和Prader-Willi综合征(PWS)。NanoImprint脚本可从https://github.com/carolinehey/NanoImprint获得。