Assessing DNA methylation detection for primary human tissue using Nanopore sequencing.

ABSTRACT: DNA methylation most commonly occurs as 5-methylcytosine (5mC) in the human genome and has been associated with human diseases. Recent developments in single-molecule sequencing technologies (Oxford Nanopore Technologies [ONT] and Pacific Biosciences [PacBio]) have enabled readouts of long, native DNA molecules, including cytosine methylation. ONT recently upgraded their Nanopore sequencing chemistry and kits from the R9 to the R10 version, which yielded increased accuracy and sequencing throughput. However, the effects on methylation detection have not yet been documented. Here, we performed a series of computational analyses to characterize differences in Nanopore-based 5mC detection between the ONT R9 and R10 chemistries. We compared 5mC calls in R9 and R10 for three human genome data s

SUBMITTER: Genner R 

PROVIDER: S-EPMC12047266 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature