Evidence map›Paper›PMID 29662163›Full record

ArticleNature genetics2018

Polymer physics predicts the effects of structural variants on chromatin architecture.

Simona Bianco, Darío G Lupiáñez, Andrea M Chiariello, Carlo Annunziatella, Katerina Kraft, Robert Schöpflin, Lars Wittler, Guillaume Andrey, Martin Vingron, Ana Pombo and 2 more

Open access · greenAbstract read
PubMed Publisher
In one paragraph

Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers.

0numbers the graph read from it
0cells of the map it votes in
112citing papers in PubMed
11.3field-weighted citation impact, top 1% of its field
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

112 citing papers in PubMed, 253 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Transcriptional condensates encode a "golden mean" to optimize enhancer-promoter communication across genomic distances.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Bridging spatial and temporal scales of developmental gene regulation.Current opinion in genetics & development · 2025
    Review
  16. Review
  17. Article
  18. Linking DNA-packing density distribution and TAD boundary locations.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  19. Review
  20. Article

52 more citing papers are in PubMed but not listed here.

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

12 authors at 4 institutions in 2 countries.

Simona Bianco *Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.ORCID http://orcid.org/0000-0001-5819-060X
Darío G Lupiáñez *Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.ORCID http://orcid.org/0000-0002-3165-036X
Andrea M Chiariello *Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.ORCID http://orcid.org/0000-0002-6112-0167
Carlo Annunziatella *Dipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy.
Katerina KraftMax Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.
Robert SchöpflinDepartment of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Lars WittlerDepartment Developmental Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Guillaume AndreyMax Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.ORCID http://orcid.org/0000-0002-0911-4907
Martin VingronDepartment of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.ORCID http://orcid.org/0000-0002-1765-4241
Ana PomboEpigenetic Regulation and Chromatin Architecture Group, Berlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine, Berlin-Buch, Germany.ORCID http://orcid.org/0000-0002-7493-6288
Stefan MundlosMax Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany. mundlos@molgen.mpg.de.ORCID http://orcid.org/0000-0002-9788-3166
Mario NicodemiDipartimento di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso di Monte Sant'Angelo, Naples, Italy. mario.nicodemi@na.infn.it.ORCID http://orcid.org/0000-0002-8416-6416
Max Planck Institute for Molecular Genetics · DEIstituto Nazionale di Fisica Nucleare, Sezione di Napoli · ITMax Delbrück Center · DEBerlin-Brandenburger Centrum für Regenerative Therapien · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Structural variants (SVs) can result in changes in gene expression due to abnormal chromatin folding and cause disease. However, the prediction of such effects remains a challenge. Here we present a polymer-physics-based approach (PRISMR) to model 3D chromatin folding and to predict enhancer-promoter contacts. PRISMR predicts higher-order chromatin structure from genome-wide chromosome conformation capture (Hi-C) data. Using the EPHA4 locus as a model, the effects of pathogenic SVs are predicted in silico and compared to Hi-C data generated from mouse limb buds and patient-derived fibroblasts. PRISMR deconvolves the folding complexity of the EPHA4 locus and identifies SV-induced ectopic contacts and alterations of 3D genome organization in homozygous or heterozygous states. We show that SVs can reconfigure topologically associating domains, thereby producing extensive rewiring of regulatory interactions and causing disease by gene misexpression. PRISMR can be used to predict interactions in silico, thereby providing a tool for analyzing the disease-causing potential of SVs.

Indexed as

AnimalsCCCTC-Binding FactorCell LineChromatinChromatin Assembly and DisassemblyChromosomesEnhancer Elements, GeneticGene ExpressionHumansMiceMice, Inbred C57BLPolymersPromoter Regions, GeneticReceptor, EphA4CCCTC-Binding FactorChromatinPolymersReceptor, EphA4

Identifiers

PMID29662163
OpenAlexW2797715364

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.