Evidence map›Paper›PMID 41959420›Full record

ArticlebioRxiv : the preprint server for biology2026

The diploid reference genome of a human embryonic stem cell line.

Ivana Pačar, Matteo Tommaso Ungaro, Ying Chen, Hamza Dallali, Jack A Medico, Prajna Hebbar, Mark Diekhans, Elena Di Tommaso, Margarita Geleta, Patricia P Chan and 18 more

Abstract readPreprint
In one paragraph

Article 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.

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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

28 authors.

Ivana PačarUC Santa Cruz Genomics Institute and Biomolecular Engineering Department, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA 95064, USA.
Matteo Tommaso UngaroLaboratory of Genome Evolution, Department of Biology and Biotechnologies "Charles Darwin", University of Rome "La Sapienza", 00185 Rome, Italy.ORCID 0000-0002-1107-3307
Ying ChenThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, NY 10065, USA.ORCID 0000-0002-2237-6426
Hamza DallaliLaboratory of Genome Evolution, Department of Biology and Biotechnologies "Charles Darwin", University of Rome "La Sapienza", 00185 Rome, Italy.ORCID 0000-0002-3186-697X
Jack A MedicoThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, NY 10065, USA.ORCID 0000-0003-1855-0855
Prajna HebbarUC Santa Cruz Genomics Institute and Biomolecular Engineering Department, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA 95064, USA.ORCID 0009-0008-9817-5330
Mark DiekhansUC Santa Cruz Genomics Institute and Biomolecular Engineering Department, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA 95064, USA.ORCID 0000-0002-0430-0989
Elena Di TommasoLaboratory of Genome Evolution, Department of Biology and Biotechnologies "Charles Darwin", University of Rome "La Sapienza", 00185 Rome, Italy.ORCID 0000-0001-6270-6189
Margarita GeletaBerkeley AI Research Laboratory, Department of Electrical Engineering and Computer Science, University of California, Berkeley, Berkeley, CA 94720, USA.ORCID 0000-0001-5823-9776
Patricia P ChanUC Santa Cruz Genomics Institute and Biomolecular Engineering Department, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA 95064, USA.ORCID 0000-0003-0810-1642
Todd M LoweUC Santa Cruz Genomics Institute and Biomolecular Engineering Department, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA 95064, USA.ORCID 0000-0003-3253-6021
Jennifer BalaccoThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, NY 10065, USA.
Nivesh JainThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, NY 10065, USA.
Francine AckermanThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, NY 10065, USA.ORCID 0009-0009-5957-829X
Michela MochiDepartment of Molecular Medicine, University of Rome "La Sapienza", 00185 Rome, Italy.
Alexander G IoannidisUC Santa Cruz Genomics Institute and Biomolecular Engineering Department, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA 95064, USA.
Niranjan SawarkarThe New York Stem Cell Foundation, 619 W 54th St., NY, 10019 USA.ORCID 0000-0003-3775-7018
Kasandra DiazThe New York Stem Cell Foundation, 619 W 54th St., NY, 10019 USA.
Kavitha Krishna SudhakarGarvan Institute of Medical Research, Darlinghurst 2010 Sydney, Australia.
Joseph E PowellGarvan Institute of Medical Research, Darlinghurst 2010 Sydney, Australia.ORCID 0000-0002-5070-4124
Miten JainDepartment of Bioengineering, Department of Physics, Khoury College of Computer Sciences, Northeastern University, Boston, MA 02115, USA.
Alessandro RosaDepartment of Molecular Medicine, University of Rome "La Sapienza", 00185 Rome, Italy.ORCID 0000-0001-9999-7223
Gist F CroftGarvan Institute of Medical Research, Darlinghurst 2010 Sydney, Australia.ORCID 0000-0002-9721-0148
Andrea TanzerUniversity of Vienna, Max Perutz Labs, Vienna, Austria.ORCID 0000-0003-2873-4236
Erich D JarvisThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, NY 10065, USA.ORCID 0000-0001-8931-5049
Giulio FormentiThe Vertebrate Genome Laboratory, The Rockefeller University, 1230 York Ave, NY 10065, USA.ORCID 0000-0002-7554-5991
Sofie R SalamaUC Santa Cruz Genomics Institute and Biomolecular Engineering Department, University of California, Santa Cruz, 1156 High Street, Santa Cruz, CA 95064, USA.ORCID 0000-0001-6999-7193
Simona GiuntaLaboratory of Genome Evolution, Department of Biology and Biotechnologies "Charles Darwin", University of Rome "La Sapienza", 00185 Rome, Italy.ORCID 0000-0002-6666-9271

Funding

Dissecting the role of NOTCH2NL genes in human brain development and neurological disorders associated with chromosome 1q21.1 distal duplications and deletions.R01MH120295 · NIMH · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI SALAMA, SOFIE REDA · 2020 to 2024
$3.7M
NIMH NIH HHS R01 MH120295
6 · The paper itself

Abstract

Advances in DNA sequencing and assembly technologies are spurring a shift from haploid reference genomes to sample-specific diploid assemblies. Here, we generated the first telomere-to-telomere (T2T) diploid reference for the widely used human embryonic stem cell (hESC) line, H9 (WAe009-A). This haplotype-resolved assembly is highly accurate with comprehensive annotation of genes, segmental duplications, methylation, and chromatin conformation. Pangenomic and phased-locus inference point to H9's mixed ancestry with a predominant European component. H9-specific genomic features include near-perfect telomeres ~1.65-fold longer than other T2T assemblies, consistent with telomerase activity during pluripotency; chromosome 17 inversions that can predispose offspring to neurological syndromes; and expansions of ncRNA clusters, with overall genomic stability maintained despite extensive culturing. Mapping multi-omic datasets to the genome, we demonstrate the power of this resource for allele-specific, high-precision transcriptomic, genetic, and epigenetic analyses, with far-reaching implications for human development and disease.

Indexed as

ancestry inferenceembryonic stem cellsgenome assemblyhaplotype resolutionpangenomicspluripotencytelomere-to-telomere

Identifiers

PMID41959420
PMCPMC13060304

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.