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 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.
Authors
- Ester Kalef-Ezra (ORCID: https://orcid.org/0000-0002-1297-3315)
- Clifton L. Dalgard (ORCID: https://orcid.org/0000-0003-2025-8239)
- Christos Proukakis (ORCID: https://orcid.org/0000-0001-6423-6539)
- Marco Toffoli (ORCID: https://orcid.org/0000-0002-3255-9648)
- Nadine Holmes (ORCID: https://orcid.org/0000-0001-7470-3786)
- Fritz Joachim Sedlazeck (ORCID: https://orcid.org/0000-0001-6040-2691)
- Sonja W. Scholz (ORCID: https://orcid.org/0000-0002-6623-0429)
- Zeliha Sahin
- Heer H. Mehta (ORCID: https://orcid.org/0000-0002-5357-2112)
- Xinchang Zheng (ORCID: https://orcid.org/0000-0001-5739-861X)
- Yi Han (ORCID: https://orcid.org/0000-0001-7605-8979)
- Adam Ameur (ORCID: https://orcid.org/0000-0001-6085-6749)
- Michal Izydorczyk (ORCID: https://orcid.org/0000-0003-3461-1224)
- Dominic W. Horner (ORCID: https://orcid.org/0009-0002-1988-3838)
- Donna M. Muzny
Institutions
- Uppsala University (SE)
- University of Nottingham (GB)
- Johns Hopkins University (US)
- Uniformed Services University of the Health Sciences (US)
- Queen Mary University of London (GB)
- Baylor College of Medicine (US)
- Science for Life Laboratory (SE)
- The Royal Free Hospital (GB)
- University Medical Center (US)
- National Human Genome Research Institute (US)
- Parkinson's UK (GB)
- National Institute of Neurological Disorders and Stroke (US)
- National Hospital for Neurology and Neurosurgery (GB)
- Research Network (United States) (US)
- University College London (GB)
- Rice University (US)
Publication Details
- Journal
- Communications Biology
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1038/s42003-025-08805-2
- Citations
- 2
- Primary Topic
- Single-cell and spatial transcriptomics
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Michael J. Fox Foundation for Parkinson's Research
- National Institutes of Health