Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

medRxiv [Preprint]. 2024 Nov 11:2024.11.11.24317113. doi: 10.1101/2024.11.11.24317113.

Abstract

The advent of single cell DNA sequencing revealed astonishing dynamics of genomic variability, but failed at characterizing smaller to mid size variants that on the germline level have a profound impact. In this work we discover novel dynamics in three brains utilizing single cell long-read sequencing. This provides key insights into the dynamic of the genomes of individual cells and further highlights brain specific activity of transposable elements.

Publication types

  • Preprint