Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.

ABSTRACT:

Background

The detection of 5-methylcytosine (5mC) patterns in the human genome is relevant for the diagnosis of various genetic conditions. Genome-wide methylation episignatures provide a new approach for resolving variants of uncertain significance. Whole-genome DNA methylation detection is usually performed using short-read bisulfite sequencing procedures or methylation arrays. Pacific Biosciences (PacBio) long-read sequencing (LRS) is a technology that can detect 5mC on native DNA. Here we assessed the ability of PacBio HiFi LRS to robustly identify genome-wide methylation for medical purposes. We assessed the ability to identify differentially methylated imprinted regions and genome-wide epigenetic signatures for genetic disorders.

Methods

PacBio LRS methylation detecti

SUBMITTER: Ivashchenko V 

PROVIDER: S-EPMC12836926 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature