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

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

doi:10.1038/s42003-025-08805-2

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

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^*

^*Corresponding author for this work

Anatomy, Physiology, and Genetics

Research output: Contribution to journal › Article › peer-review

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 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.

Original language	English
Article number	1627
Journal	Communications Biology
Volume	8
Issue number	1
DOIs	https://doi.org/10.1038/s42003-025-08805-2
State	Published - Dec 2025

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Izydorczyk, M. B., Kalef-Ezra, E., Horner, D. W., Zheng, X., Holmes, N., Toffoli, M., Sahin, Z., Han, Y., Mehta, H. H., Scholz, S. W., Dalgard, C. L., Muzny, D. M., Ameur, A., Sedlazeck, F. J., & Proukakis, C. (2025). Single cell long read whole genome sequencing reveals somatic transposon activity in human brain. Communications Biology, 8(1), Article 1627. https://doi.org/10.1038/s42003-025-08805-2

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title = "Single cell long read whole genome sequencing reveals somatic transposon activity in human brain",

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 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.",

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

note = "Publisher Copyright: {\textcopyright} The Author(s) 2025.",

year = "2025",

month = dec,

doi = "10.1038/s42003-025-08805-2",

language = "English",

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journal = "Communications Biology",

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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 2025, 'Single cell long read whole genome sequencing reveals somatic transposon activity in human brain', Communications Biology, vol. 8, no. 1, 1627. https://doi.org/10.1038/s42003-025-08805-2

TY - JOUR

T1 - Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

AU - Izydorczyk, Michal B.

AU - Kalef-Ezra, Ester

AU - Horner, Dominic W.

AU - Zheng, Xinchang

AU - Holmes, Nadine

AU - Toffoli, Marco

AU - Sahin, Zeliha

AU - Han, Yi

AU - Mehta, Heer H.

AU - Scholz, Sonja W.

AU - Dalgard, Clifton L.

AU - Muzny, Donna M.

AU - Ameur, Adam

AU - Sedlazeck, Fritz J.

AU - Proukakis, Christos

PY - 2025/12

Y1 - 2025/12

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/105022522092

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DO - 10.1038/s42003-025-08805-2

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AN - SCOPUS:105022522092

SN - 2399-3642

VL - 8

JO - Communications Biology

JF - Communications Biology

IS - 1

M1 - 1627

ER -

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

Abstract

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