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NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing.

Caroline Hey BækgaardEmilie Boye LesterSteffen Møller-LarsenMathilde Faurholdt LauridsenMartin Jakob Larsen
Published in: Annals of human genetics (2024)
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.
Keyphrases
  • dna methylation
  • case report
  • single molecule
  • gene expression
  • electronic health record
  • big data
  • deep learning