Evidence map›Paper›PMID 38232733›Full record

ArticleCell genomics2024

Haplotype-specific assembly of shattered chromosomes in esophageal adenocarcinomas.

Jannat Ijaz, Edward Harry, Keiran Raine, Andrew Menzies, Kathryn Beal, Michael A Quail, Sonia Zumalave, Hyunchul Jung, Tim H H Coorens, Andrew R J Lawson and 5 more

Open access · goldAbstract read
In one paragraph

Article in Cell genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
3.3field-weighted citation impact, top 8% 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

11 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Esophageal cancer: from pathogenesis to precision therapies.Signal transduction and targeted therapy · 2026
    Review
  3. Article
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  5. Article
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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 at 3 institutions in 3 countries.

Jannat IjazWellcome Sanger Institute, Hinxton CB10 1SA, UK. Electronic address: jijaz@altoslabs.com.
Edward HarryWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Keiran RaineWellcome Sanger Institute, Hinxton CB10 1SA, UK; Health Innovation East, Unit C, Magog Court, Shelford Bottom, Cambridge CB22 3AD, UK.
Andrew MenziesWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Kathryn BealWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Michael A QuailWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Sonia ZumalaveMobile Genomes and Disease, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidade de Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Hyunchul JungWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Tim H H CoorensWellcome Sanger Institute, Hinxton CB10 1SA, UK; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Andrew R J LawsonWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Daniel LeongamornlertWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Hayley E FranciesWellcome Sanger Institute, Hinxton CB10 1SA, UK; GSK, Gunnels Wood Road, Stevenage SG1 2NY, UK.
Mathew J GarnettWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Zemin NingWellcome Sanger Institute, Hinxton CB10 1SA, UK.
Peter J CampbellWellcome Sanger Institute, Hinxton CB10 1SA, UK. Electronic address: pc8@sanger.ac.uk.
Wellcome Sanger Institute · GBAge UK · GBCenter for Research in Molecular Medicine and Chronic Diseases · ES

Funding

Wellcome Trust
6 · The paper itself

Abstract

The epigenetic landscape of cancer is regulated by many factors, but primarily it derives from the underlying genome sequence. Chromothripsis is a catastrophic localized genome shattering event that drives, and often initiates, cancer evolution. We characterized five esophageal adenocarcinoma organoids with chromothripsis using long-read sequencing and transcriptome and epigenome profiling. Complex structural variation and subclonal variants meant that haplotype-aware de novo methods were required to generate contiguous cancer genome assemblies. Chromosomes were assembled separately and scaffolded using haplotype-resolved Hi-C reads, producing accurate assemblies even with up to 900 structural rearrangements. There were widespread differences between the chromothriptic and wild-type copies of chromosomes in topologically associated domains, chromatin accessibility, histone modifications, and gene expression. Differential epigenome peaks were most enriched within 10 kb of chromothriptic structural variants. Alterations in transcriptome and higher-order chromosome organization frequently occurred near differential epigenetic marks. Overall, chromothripsis reshapes gene regulation, causing coordinated changes in epigenetic landscape, transcription, and chromosome conformation.

Indexed as

AdenocarcinomaChromothripsisEsophageal NeoplasmsChromatinGenomeHaplotypesHumansChromatin

Identifiers

PMID38232733
PMCPMC10879010
OpenAlexW4390921221

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.