Abstract：
BACKGROUND: Long-read whole genome sequencing like Oxford Nanopore Technology, is increasingly being introduced in clinical settings. With its ability to simultaneously call sequence variation and DNA modifications including 5-methylcytosine, nanopore is a promising technology to improve diagnostics of imprinting disorders.
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.
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.
摘要：
背景：长读全基因组测序，如牛津纳米孔技术，越来越多地被引入临床环境中。具有同时调用序列变异和DNA修饰的能力，包括5-甲基胞嘧啶，纳米孔是改善印迹障碍诊断的有前途的技术。
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。
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。
