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
5 · Who and what moneyAuthors and funding
19 authors.
F Kumara MastrorosaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-0579-1895 Alessia DaponteDepartment of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, 70124, Italy.ORCID 0009-0000-1677-8333 Julie WertzDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0009-0000-3747-3221 Allison N RozanskiDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-5034-1773 William T HarveyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-0646-7528 David PorubskyDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0001-8414-8966 Jordan KnuthDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0009-0007-0176-7093 Gage H GarciaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0009-0005-2383-722X Marcelo AyllonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-0360-5446 Katherine M MunsonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0001-8413-6498 Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8058-0177 Weiya HeDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Stephanie L ShermanDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Emily G AllenDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0003-0963-036X Tracie C RosserDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0001-8900-7521 Claudia Rita CatacchioDepartment of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, 70124, Italy.ORCID 0000-0002-2166-723X Mario VenturaDepartment of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, 70124, Italy.ORCID 0000-0001-7762-8777 Glennis A LogsdonDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0003-2396-0656 Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8246-4014 Funding
Identifying and Characterizing the Full Spectrum of Haplotype-resolved Structural Variation in Human GenomesU24HG007497 · NHGRI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Evan Eichler, Jan Oliver Korbel · 2019 to 2026
$17.2MSequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5MHuman centromere variation and functionR00GM147352 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Glennis Amelia Logsdon · 2024 to 2026
$747kNHGRI NIH HHS R01 HG010169NHGRI NIH HHS U24 HG007497NIGMS NIH HHS R00 GM147352
6 · The paper itselfAbstract
Down syndrome, the most common form of human intellectual disability, is caused by nondisjunction and chromosome 21 trisomy (T21). Small centromeres have been hypothesized to contribute to its aetiology and studies on mammals suggest that larger centromeres are more efficiently transmitted, yet complete sequencing of chromosome 21 (chr21) centromeres has been particularly challenging. Using long-read sequencing, we sequenced and assembled the centromeres from eight families that include a child with free T21 (1 trio, 6 child-mother duos, and 1 singleton) all resulting from maternal meiosis I errors. Two of these families carry the smallest chr21 centromeres (143 and 181 kbp) observed in female individuals to date, exhibiting a ~10.7- and ~19.4-fold centromeric α-satellite higher-order repeat array size difference between the maternally inherited homologs, respectively. In both cases, the longer centromere harbors a poorly defined centromere dip region, marked by DNA hypomethylation, in the proband but not in the mother. A comparison of all proband chr21 centromeres (
Indexed as
aneuploidycentromerechromosome 21Down syndromegenome assemblyintellectual disabilitylong-read sequencingmethylationTrisomy 21
Identifiers
PMID38464314
PMCPMC10925182
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