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Updated: Jun 27, 2025
Methyl-binding DNA capture Sequencing for Patient Tissues
Published on: October 31, 2016
NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using
Caroline Hey Bækgaard1, Emilie Boye Lester1,2, Steffen Møller-Larsen2
1Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Introduction:
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.
Results And Conclusion:
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.
