Interplay of the Genetic Variants and Allele Specific Methylation in the Context of a Single Human Genome Study.

ABSTRACT: The methylation of CpG sites with 5mC mark is a dynamic epigenetic modification. However, the relationship between the methylation and the surrounding genomic sequence context remains poorly explored. Investigation of the allele methylation provides an opportunity to decipher the interplay between differences in the primary DNA sequence and epigenetic variation. Here, we performed high-coverage long-read whole-genome direct DNA sequencing of one individual using Oxford Nanopore technology. We also used Illumina whole-genome sequencing of the parental genomes in order to identify allele-specific methylation sites with a trio-binning approach. We have compared the results of the haplotype-specific methylation detection and revealed that trio binning outperformed other approaches that do not

SUBMITTER: Voronina MD 

PROVIDER: S-EPMC12525282 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature