Evidence map›Paper›PMID 41573929›Full record

ArticlebioRxiv : the preprint server for biology2025

A global view of human centromere variation and evolution.

Shenghan Gao, Keisuke K Oshima, Shu-Cheng Chuang, Mark Loftus, Annalaura Montanari, David S Gordon, Human Genome Structural Variation Consortium, Human Pangenome Reference Consortium, PingHsun Hsieh, Miriam K Konkel and 2 more

Abstract readPreprint
In one paragraph

Article 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
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

12 authors.

Shenghan GaoDepartment of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-3810-6527
Keisuke K OshimaDepartment of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0009-0002-2229-8998
Shu-Cheng ChuangDepartment of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-3114-1880
Mark LoftusDepartment of Genetics & Biochemistry, Clemson University, Clemson, SC, USA.ORCID 0000-0002-6279-6855
Annalaura MontanariDepartment of Biosciences, Biotechnology and Environment, University of Bari, Aldo Moro, Bari, Italy.ORCID 0009-0009-6741-9600
David S GordonDepartment of Genetics, Cell Biology, and Development, University of Minnesota, Twin Cities, MN, USA.ORCID 0000-0001-6552-4022
Human Genome Structural Variation Consortium
Human Pangenome Reference Consortium
PingHsun HsiehDepartment of Genetics, Cell Biology, and Development, University of Minnesota, Twin Cities, MN, USA.ORCID 0000-0001-8294-6227
Miriam K KonkelDepartment of Genetics & Biochemistry, Clemson University, Clemson, SC, USA.ORCID 0000-0002-3190-1667
Mario VenturaDepartment of Biosciences, Biotechnology and Environment, University of Bari, Aldo Moro, Bari, Italy.ORCID 0000-0001-7762-8777
Glennis A LogsdonDepartment of Genetics, Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0003-2396-0656

Funding

The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ira M Hall, Heng Li · 2019 to 2026
$24.9M
ELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4M
Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ANHOLT, ROBERT R. H, ARNO, GAVIN · 2021 to 2025
$10.8M
Telomere-to-telomere assemblies of human genomesR01HG011274 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Karen Hayden Miga · 2020 to 2026
$4.5M
Maintaining the integrity of a genomeR01CA266339 · NCI · STOWERS INSTITUTE FOR MEDICAL RESEARCH · PI JENNIFER L GERTON · 2022 to 2026
$1.9M
Tools for comprehensive variant characterization using the pangenomeU01HG013748 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI LI, HENG, MARSCHALL, TOBIAS · 2024 to 2024
$1.7M
Building Tools and Community to Make Pangenomes AccessibleU01HG013760 · NHGRI · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI GARRISON, ERIK · 2024 to 2024
$1.6M
Tooling for accurately studying the epigenome along the human pangenome referenceU01HG013744 · NHGRI · UNIVERSITY OF WASHINGTON · PI STERGACHIS, ANDREW BEN · 2024 to 2024
$1.4M
Integrating the reference pangenome with biobank-scale data for complex trait analysisU01HG013755 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA · 2024 to 2024
$1.3M
Human centromere variation and functionR00GM147352 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Glennis Amelia Logsdon · 2024 to 2026
$747k
The fitness effects of de novo structural variantsR00HG011041 · NHGRI · UNIVERSITY OF MINNESOTA · PI HSIEH, PINGHSUN · 2023 to 2025
$729k
NCI NIH HHS R01 CA266339NHGRI NIH HHS R00 HG011041NHGRI NIH HHS R01 HG011274NHGRI NIH HHS U01 HG010971NHGRI NIH HHS U01 HG013744NHGRI NIH HHS U01 HG013748NHGRI NIH HHS U01 HG013755NHGRI NIH HHS U01 HG013760NHGRI NIH HHS U41 HG010972NIGMS NIH HHS P20 GM139769NIGMS NIH HHS R00 GM147352
6 · The paper itself

Abstract

Centromeres are essential for accurate chromosome segregation during cell division, yet their highly repetitive sequence has historically hindered their complete assembly and characterization. Consequently, the full spectrum of centromere diversity across individuals, populations, and evolutionary contexts remains largely unexplored. Here, we address this gap in knowledge by assembling and characterizing 2,110 complete human centromeres from a diverse cohort of individuals representing 5 continental and 28 population groups. By developing a novel suite of bioinformatic tools tailored for centromeric regions, we uncover previously unknown variation within centromeres, including 226 novel centromere haplotypes and 1,870 new α-satellite higher-order repeat (HOR) variants. We find that mobile element insertions are present in 30% of centromeres, with chromosome 16 harboring

Identifiers

PMID41573929
PMCPMC12822586

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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.