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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年11月20日

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  • Michal B. Izydorczyk,
  • Ester Kalef-Ezra,
  • Dominic W. Horner,
  • Xinchang Zheng,
  • Nadine Holmes,
  • Marco Toffoli,
  • Zeliha Sahin,
  • Yi Han,
  • Heer H. Mehta,
  • Sonja W. Scholz,
  • Clifton L. Dalgard,
  • Donna M. Muzny,
  • Adam Ameur,
  • Fritz J. Sedlazeck,
  • Christos Proukakis

摘要

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.