Exploring the impact of mobile elements on Alzheimer’s disease using targeted long-read sequencing
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Transposable element-derived sequences make up more than 45% of the human genome. These sequences are not only an important source of variation but, mobile element insertions (MEIs) can also play a role in development and disease.
Here we aim to characterize MEIs both within and between individuals. To do this we used nanopore Cas9- targeted sequencing (nCATS1) to enrich for and sequence classes of mobile elements active in the human genome; L1HS, AluYa5, AluYb8. We performed these enrichments across multiple brain regions in postmortem tissue from individuals with a high-likelihood of having Alzheimer’s disease (AD) and control individuals to identify nonreference and potentially somatic MEIs.