A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes.

ABSTRACT:

Background

Long-read sequencing can enable the detection of base modifications, such as CpG methylation, in single molecules of DNA. The most commonly used methods for long-read sequencing are nanopore developed by Oxford Nanopore Technologies (ONT) and single molecule real-time (SMRT) sequencing developed by Pacific Bioscience (PacBio). In this study, we systematically compare the performance of CpG methylation detection from long-read sequencing.

Results

We demonstrate that CpG methylation detection from 7179 nanopore-sequenced DNA samples is highly accurate and consistent with 132 oxidative bisulfite-sequenced (oxBS) samples, isolated from the same blood draws. We introduce quality filters for CpGs that further enhance the accuracy of CpG methylation detection from nanopo

SUBMITTER: Sigurpalsdottir BD 

PROVIDER: S-EPMC10929077 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature