Evidence map›Paper›PMID 39638559›Full record

ArticleGenome research2024

An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes.

Chong Li, Marc Jan Bonder, Sabriya Syed, Matthew Jensen, Human Genome Structural Variation Consortium (HGSVC), HGSVC Functional Analysis Working Group, Mark B Gerstein, Michael C Zody, Mark J P Chaisson, Michael E Talkowski and 5 more

Abstract read
In one paragraph

Article in Genome research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Polymorphic 3D genome architecture mediated by transposable elements.bioRxiv : the preprint server for biology · 2026
    Article
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

15 authors.

Chong LiDepartment of Computer and Information Sciences, College of Science and Technology, Temple University, Philadelphia, Pennsylvania 19122, USA.ORCID 0000-0003-1949-4074
Marc Jan BonderDepartment of Genetics, Groningen, University of Groningen, University Medical Center Groningen, Groningen 9713 AV, Netherlands.
Sabriya SyedThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.
Matthew JensenDepartment of Molecular Biochemistry and Biophysics, Yale University, New Haven, Connecticut 06510, USA.
Human Genome Structural Variation Consortium (HGSVC)
HGSVC Functional Analysis Working Group
Mark B GersteinDepartment of Molecular Biochemistry and Biophysics, Yale University, New Haven, Connecticut 06510, USA.
Michael C ZodyNew York Genome Center, New York, New York 10013, USA.
Mark J P ChaissonDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, California 90089, USA.
Michael E TalkowskiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.ORCID 0000-0003-2889-0992
Tobias MarschallInstitute for Medical Biometry and Bioinformatics, Medical Faculty and University Hospital, Heinrich Heine University, 40225 Düsseldorf, Germany.ORCID 0000-0002-9376-1030
Jan O KorbelEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, 69117 Heidelberg, Germany.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195-5065, USA.ORCID 0000-0002-8246-4014
Charles LeeThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.
Xinghua ShiDepartment of Computer and Information Sciences, College of Science and Technology, Temple University, Philadelphia, Pennsylvania 19122, USA; mindyshi@temple.edu.

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
$17.2M
Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
Scalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR01MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2019 to 2025
$5.4M
Sequence-resolved structural variation of human genomesR01HG010169 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2018 to 2026
$4.5M
Evaluating the Impact of Mutations in Distant-Acting Enhancers in Structural Birth DefectsR01HD114353 · NICHD · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio, Axel Visel · 2023 to 2026
$3.3M
Detection and genotyping complex human genetic variation using single-molecule sequencingR01HG011649 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Mark Chaisson · 2021 to 2026
$2.5M
Representing structural haplotypes and complex genetic variation in pan-genome graphsU01HG010973 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI CHAISSON, MARK, EICHLER, EVAN · 2020 to 2023
$1.3M
Scalable tools and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR56MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2018 to 2018
$870k
NHGRI NIH HHS R01 HG002385NHGRI NIH HHS R01 HG010169NHGRI NIH HHS R01 HG011649NHGRI NIH HHS U01 HG010973NHGRI NIH HHS U24 HG007497NICHD NIH HHS R01 HD114353NIMH NIH HHS R01 MH115957NIMH NIH HHS R56 MH115957
6 · The paper itself

Abstract

The human genome is packaged within a three-dimensional (3D) nucleus and organized into structural units known as compartments, topologically associating domains (TADs), and loops. TAD boundaries, separating adjacent TADs, have been found to be well conserved across mammalian species and more evolutionarily constrained than TADs themselves. Recent studies show that structural variants (SVs) can modify 3D genomes through the disruption of TADs, which play an essential role in insulating genes from outside regulatory elements' aberrant regulation. However, how SV affects the 3D genome structure and their association among different aspects of gene regulation and candidate

Indexed as

Genome, HumanCell LineChromatinGene Expression RegulationHumansMutagenesis, InsertionalChromatin

Identifiers

PMID39638559
PMCPMC11694747

What OpenQuestion holds

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LicenceCC BY-NC
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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.