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

By Michal B. Izydorczyk, Ester Kalef-Ezra, PhD, Dominic Horner, BSc, Xinchang Zheng, Nadine Holmes, Marco Toffoli, MD, Zeliha Gözde Turan, PhD, Yi Han, Heer H Mehta, Donna M Muzny, Adam Ameur, Fritz Sedlazeck, PhD and Christos Proukakis, PhD
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Output Details

Description
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.
Tags
  • Postmortem
Team
Team Voet
Program
Collaborative Research Network
Theme
PD Functional Genomics

Meet the Authors

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    Michal B. Izydorczyk

  • Ester Kalef-Ezra, PhD

    Key Personnel: Team Voet, 

    University College London

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    Dominic Horner, BSc

    Key Personnel: Team Voet, 

    University College London

  • User avatar fallback logo

    Xinchang Zheng

  • User avatar fallback logo

    Nadine Holmes

  • Marco Toffoli, MD

    Key Personnel: Team Schapira, 

    University College London

  • Zeliha Gözde Turan, PhD

    Key Personnel: Team Voet, 

    University College London

  • User avatar fallback logo

    Yi Han

  • User avatar fallback logo

    Heer H Mehta

  • User avatar fallback logo

    Donna M Muzny

  • User avatar fallback logo

    Adam Ameur

  • Fritz Sedlazeck, PhD

    Key Personnel: Team Voet, 

    Baylor College of Medicine

  • Christos Proukakis, PhD

    Co-PI (Core Leadership): Team Voet, 

    University College London

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Single cell long-read sequencing uncovers novel dynamics in three brains, shedding light on genomic variability. It reveals brain-specific transposable element activity, offering crucial insights into individual cell genomes.

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