In one paragraphArticle in bioRxiv : the preprint server for biology, 2025. 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
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
13 authors.
Weichen ZhouGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-4755-1072 Yanming GanGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0001-9446-3791 Jessica A SwitzenbergGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-4569-3720 Jinhao WangGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0009-0008-7747-1851 Paulo De OliveiraLieber Institute for Brain Development, Baltimore, MD, USA.
Kunal KathuriaLieber Institute for Brain Development, Baltimore, MD, USA.
Steven J LoshGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0009-0000-5286-4714 Brandt BessellGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-2334-8790 Torrin L McDonaldGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0001-5670-9375 Alan P BoyleGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-2081-1105 Ryan E MillsGilbert S. Omenn Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0003-3425-6998 Funding
Research Education ComponentP30AG072931 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Ana Marie Daugherty · 2021 to 2026
$26.5MUniversity of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4MMobile element derived chromatin looping variability in human populationsR01GM144484 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOYLE, ALAN P · 2022 to 2025
$1.6MMolecular and Computational Tools for Identifying Somatic Mosaicism in Human TissuesUH3NS132084 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Alan P Boyle, RYAN E MILLS · 2025 to 2026
$1.3MMolecular and Computational Tools for Identifying Somatic Mosaicism in Human TissuesUG3NS132084 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOYLE, ALAN P, MILLS, RYAN E · 2023 to 2024
$789kNew technologies for accurate capture and sequencing of repeat-associated regionsR21HG011493 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOYLE, ALAN P, MILLS, RYAN E · 2021 to 2022
$643kLeveraging large datasets to determine genomic impact of transposable elements in Alzheimer’s Disease and related dementiasR03AG087485 · NIA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ZHOU, WEICHEN · 2025 to 2025
$303kThe Lowe Oculocerebrorenal SyndromeZ01HG000040 · NHGRI · HUMAN GENOME RESEARCH · PI NUSSBAUM, ROBERT L · 1995 to 2005
–Intramural NIH HHS Z01 HG000040NHGRI NIH HHS R21 HG011493NHGRI NIH HHS T32 HG000040NIA NIH HHS P30 AG072931NIA NIH HHS R03 AG087485NIGMS NIH HHS R01 GM144484NINDS NIH HHS UG3 NS132084NINDS NIH HHS UH3 NS132084
6 · The paper itselfAbstract
Somatic mutations in individual cells create genomic mosaicism, influencing genetic disorders and cancers. While clonal mutations in cancers are well-studied, rarer somatic variants in normal tissues remain poorly characterized. This study systematically evaluates detection methods using a personalized donor-specific assembly (DSA) from a neurotypical individual's dorsolateral prefrontal cortex assessed with Oxford Nanopore, NovaSeq, linked-read sequencing, Cas9-targeted long-read sequencing (TEnCATS), and single-neuron MALBAC amplification. The haplotype-resolved DSA improved cross-platform analysis, dramatically increasing phasing rates. Germline SNVs, structural variations (SVs), and transposable elements (TEs) were recalled with 99.4%-99.7% accuracy in bulk tissue, and phased haplotype analysis reduced false positives by 15.4%-75.1% for putative somatic candidates. Long-read single-neuron sequencing detected nine somatic SV candidates, demonstrating enhanced sensitivity for rare variants, while TEnCATS identified eight low-frequency somatic TE candidates. These findings highlight advanced methodologies for precise somatic variant detection, critical for understanding mosaicism's role in health and disease.
Indexed as
Multi-platform SequencingPersonalized Genome AssemblySingle CellSomatic Mosaicism
Identifiers
PMID39763954
PMCPMC11702624
What OpenQuestion holds
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