Evidence map›Paper›PMID 39606404›Full record

ArticlemedRxiv : the preprint server for health sciences2024

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 Gozde Sahin, Yi Han, Heer H Mehta, Donna M Muzny and 3 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

Michal B IzydorczykHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-3461-1224
Ester Kalef-EzraDepartment of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK.ORCID 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 0009-0002-1988-3838
Xinchang ZhengHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5739-861X
Nadine HolmesDeepSeq, Nottingham, UK.ORCID 0000-0001-7470-3786
Marco ToffoliDepartment of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0002-3255-9648
Zeliha Gozde SahinDepartment of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0001-8312-7725
Yi HanHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-7605-8979
Heer H MehtaHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-5357-2112
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-3055-0359
Adam AmeurScience for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0001-6085-6749
Fritz J SedlazeckHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-6040-2691
Christos ProukakisDepartment of Clinical and Movement Neurosciences, Royal Free Campus, Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0001-6423-6539

Funding

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
NINDS NIH HHS UG3 NS132105
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 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.

Identifiers

PMID39606404
PMCPMC11601780

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.