Evidence map›Paper›PMID 41266782›Full record

ArticleCommunications biology2025

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 and 5 more

Abstract read
In one paragraph

Article in Communications biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Michal B IzydorczykHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Ester Kalef-EzraDepartment of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK.ORCID http://orcid.org/0000-0002-1297-3315
Dominic W HornerDepartment of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK.ORCID http://orcid.org/0009-0002-1988-3838
Xinchang ZhengHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Nadine HolmesDeepSeq, School of Life Sciences, University of Nottingham, Nottingham, UK.
Marco ToffoliDepartment of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK.ORCID http://orcid.org/0000-0002-3255-9648
Zeliha SahinAligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.
Yi HanHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0001-7605-8979
Heer H MehtaHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Sonja W ScholzNeurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-6623-0429
Clifton L DalgardDepartment of Anatomy, Physiology & Genetics, Uniformed Services, University of the Health Sciences (USUHS), Bethesda, MD, USA.ORCID http://orcid.org/0000-0003-2025-8239
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Adam AmeurScience for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0001-6085-6749
Fritz J Sedlazeck *Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.ORCID http://orcid.org/0000-0001-6040-2691
Christos Proukakis *Department of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK. c.proukakis@ucl.ac.uk.ORCID http://orcid.org/0000-0001-6423-6539

Funding

Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
Identification of somatic/ mosaic SV and transposon activity and their crosstalk to DNA epigenetic ModificationsUH3NS132105 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI Fritz J Sedlazeck, Tao Wu · 2025 to 2026
$994k
Identification of somatic/ mosaic SV and transposon activity and their crosstalk to DNA epigenetic ModificationsUG3NS132105 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI SEDLAZECK, FRITZ J, WU, TAO · 2023 to 2024
$580k
Intramural NIH HHS ZIA NS003154Michael J. Fox Foundation for Parkinson's Research (Michael J. Fox Foundation) 000430NINDS NIH HHS UG3 NS132105NINDS NIH HHS UH3 NS132105U.S. Department of Health & Human Services | National Institutes of Health (NIH) UG3NS132105
6 · The paper itself

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.

Indexed as

BrainDNA Transposable ElementsGenome, HumanSingle-Cell AnalysisWhole Genome SequencingHumansDNA Transposable Elements

Identifiers

PMID41266782
PMCPMC12635067

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.