Nanopore Long-Read Sequencing Unveils Genomic Disruptions in Alzheimer's Disease.

ABSTRACT: Studies in laboratory models and postmortem human brain tissue from patients with Alzheimer's disease have revealed disruption of basic cellular processes such as DNA repair and epigenetic control as drivers of neurodegeneration. While genomic alterations in regions of the genome that are rich in repetitive sequences, often termed "dark regions," are difficult to resolve using traditional sequencing approaches, long-read technologies offer promising new avenues to explore previously inaccessible regions of the genome. In the current study, we leverage nanopore-based long-read whole-genome sequencing of DNA extracted from postmortem human frontal cortex at early and late stages of Alzheimer's disease, as well as age-matched controls, to analyze retrotransposon insertion events, non-allelic

SUBMITTER: Ramirez P 

PROVIDER: S-EPMC10871260 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature