A comprehensive long-read sequencing system to assess DNA methylation at differentially methylated regions and imprinting-disorder-related genes.

ABSTRACT:

Background

Imprinted genes are expressed in a parental-origin-specific manner. The imprinted regions including imprinted genes have differentially methylated regions (DMRs) with different 5-methylcytosine (5mC) patterns for CpGs on each parental allele, and DMRs function as imprinting control centers. Aberrant expression of the imprinted genes caused by structural variants involving DMRs, single-nucleotide variants in imprinted genes, uniparental disomy, and epimutation lead to imprinting disorders (IDs). Nanopore-based targeted long-read sequencing (T-LRS) can obtain sequence reads 10-100 kb long together with information on DNA methylation in each CpG and is cost-effective compared to whole-genome LRS. T-LRS is a valuable tool for efficient genetic testing for IDs and has great p

SUBMITTER: Urakawa T 

PROVIDER: S-EPMC12628973 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature