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

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.

Type: Whole Genome Sequencing
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000001652	Human brain single nuclei amplifed by Droplet MDA. Nanopore long read whole genome sequencing. Two cases of multiple system atrophy, one control.	MinION PromethION	38

Publications	Citations
Single cell long read whole genome sequencing reveals somatic transposon activity in human brain. 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: 2025 1627	0