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 Z, Han Y, Mehta HH, Scholz SW, Dalgard CL, Muzny DM, Ameur A, Sedlazeck FJ, Proukakis C
Commun Biol 8 (1) 1627 [2025-11-20; online 2025-11-20]
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 previously uncharacterized genomic dynamics in 18 cells from three human brains utilizing single cell long-read whole genome sequencing. This provides key insights into the dynamic of the genomes of individual cells and further highlights brain specific activity of transposable elements, but requires validation in larger studies.
NGI Uppsala (Uppsala Genome Center) [Collaborative]
National Genomics Infrastructure [Collaborative]
PubMed 41266782
DOI 10.1038/s42003-025-08805-2
Crossref 10.1038/s42003-025-08805-2
pii: 10.1038/s42003-025-08805-2