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

Izydorczyk, M. B.; Kalef-Ezra, E.; Horner, D.; Zheng, X.; Holmes, N.; Toffoli, M.; Sahin, Z. G.; Han, Y.; Mehta, H. H.; Muzny, D. M.; Ameur, A.; Sedlazeck, F. J.; Proukakis, C.

2024-11-11 neurology
10.1101/2024.11.11.24317113 medRxiv
Show 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.

Published in Communications Biology (predicted rank #5) · training set

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"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.