ArticlebioRxiv : the preprint server for biology2026
HOROSCOPE: Decoding human centromere architecture from short reads using
Carsten Hain, Tobias Rausch, Human Genome Structural Variation Consortium, Human Pangenome Reference Consortium, Jan O Korbel
Abstract readPreprint
In one paragraphArticle in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
5 authors.
Tobias RauschGenome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.ORCID 0000-0001-5773-5620 Human Genome Structural Variation Consortium
Human Pangenome Reference Consortium
Funding
The WashU-UCSC-EBI Human Genome Reference Center."U41HG010972 · NHGRI · WASHINGTON UNIVERSITY · PI Ira M Hall, Heng Li · 2019 to 2026
$24.9MELSI Administrative Supplement - Center for Human Reference Genome DiversityU01HG010971 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI EICHLER, EVAN, JARVIS, ERICH D · 2019 to 2023
$18.4MTelomere-to-telomere assemblies of human genomesR01HG011274 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI Karen Hayden Miga · 2020 to 2026
$4.5MTools for comprehensive variant characterization using the pangenomeU01HG013748 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI LI, HENG, MARSCHALL, TOBIAS · 2024 to 2024
$1.7MBuilding Tools and Community to Make Pangenomes AccessibleU01HG013760 · NHGRI · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI GARRISON, ERIK · 2024 to 2024
$1.6MTooling for accurately studying the epigenome along the human pangenome referenceU01HG013744 · NHGRI · UNIVERSITY OF WASHINGTON · PI STERGACHIS, ANDREW BEN · 2024 to 2024
$1.4MIntegrating the reference pangenome with biobank-scale data for complex trait analysisU01HG013755 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GYMREK, MELISSA · 2024 to 2024
$1.3MNHGRI 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 HG010972
6 · The paper itselfAbstract
Centromeres safeguard genome integrity, yet their roles in human disease remain understudied because of their repetitive sequence. We present HOROSCOPE, a
Indexed as
Cancer genomicsCentromereCentromere dip regionCopy-number alterationk-merPopulation genomicsShort-read sequencingTelomere-to-telomere assembly
Identifiers
PMID42327128
PMCPMC13278099
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