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

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Izydorczyk MB, Kalef-Ezra E, Horner DW, Zheng X, Holmes N, Toffoli M, Sahin ZG, Han Y, Mehta HH, Muzny DM, Ameur A, Sedlazeck FJ, Proukakis C

medRxiv - (-) - [2024-11-11; online 2024-11-11]

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.

PubMed 39606404

DOI 10.1101/2024.11.11.24317113

Crossref 10.1101/2024.11.11.24317113

pmc: PMC11601780
pii: 2024.11.11.24317113