NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders using nanopore long-read sequencing.
Ann Hum Genet
; 88(5): 392-398, 2024 Sep.
Article
em En
| MEDLINE
| ID: mdl-38690755
ABSTRACT
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 ANDCONCLUSION:
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.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Prader-Willi
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Síndrome de Beckwith-Wiedemann
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Síndrome de Angelman
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Impressão Genômica
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Metilação de DNA
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Sequenciamento por Nanoporos
Limite:
Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article