Evidence map›Paper›PMID 37932252›Full record

ArticleNature communications2023

Tracing cancer evolution and heterogeneity using Hi-C.

Dan Daniel Erdmann-Pham, Sanjit Singh Batra, Timothy K Turkalo, James Durbin, Marco Blanchette, Iwei Yeh, Hunter Shain, Boris C Bastian, Yun S Song, Daniel S Rokhsar and 1 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2023. 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
2.9field-weighted citation impact, top 9% 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, 12 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Single cell variant to enhancer to gene map for coronary artery disease.medRxiv : the preprint server for health sciences · 2024
    Article
  9. Article
  10. Review
  11. 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

11 authors at 6 institutions in 2 countries.

Dan Daniel Erdmann-Pham *Department of Mathematics, University of California, Berkeley, CA, 94720, USA.
Sanjit Singh Batra *Computer Science Division, University of California, Berkeley, CA, 94720, USA.
Timothy K TurkaloDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, 94720, USA.
James DurbinDovetail Genomics, Enterprise Way, Scotts Valley, CA, 95066, USA.
Marco BlanchetteDovetail Genomics, Enterprise Way, Scotts Valley, CA, 95066, USA.
Iwei YehDepartment of Dermatology and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, 94143, USA.ORCID 0000-0002-3941-3561
Hunter ShainDepartment of Dermatology and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, 94143, USA.
Boris C BastianDepartment of Dermatology and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, 94143, USA.ORCID 0000-0003-1836-6062
Yun S SongComputer Science Division, University of California, Berkeley, CA, 94720, USA. yss@berkeley.edu.ORCID 0000-0002-0734-9868
Daniel S RokhsarDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, 94720, USA. drokhsar@gmail.com.
Dirk HockemeyerDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, 94720, USA. hockemeyer@berkeley.edu.ORCID 0000-0002-5598-5092
University of California, Berkeley · USUniversity of California, San Francisco · USDovetail Genomics (United States) · USChan Zuckerberg Initiative (United States) · USInnovative Genomics Institute · USOkinawa Institute of Science and Technology Graduate University · JP

Funding

Molecular and immunologic evolution of melanomas from pre-neoplastic lesionsR35CA220481 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BASTIAN, BORIS C. · 2017 to 2023
$6.3M
Robust and efficient statistical inference methods for genomicsR35GM134922 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI SONG, YUN S · 2020 to 2024
$2.0M
NCI NIH HHS R35 CA220481NIGMS NIH HHS R35 GM134922
6 · The paper itself

Abstract

Chromosomal rearrangements can initiate and drive cancer progression, yet it has been challenging to evaluate their impact, especially in genetically heterogeneous solid cancers. To address this problem we developed HiDENSEC, a new computational framework for analyzing chromatin conformation capture in heterogeneous samples that can infer somatic copy number alterations, characterize large-scale chromosomal rearrangements, and estimate cancer cell fractions. After validating HiDENSEC with in silico and in vitro controls, we used it to characterize chromosome-scale evolution during melanoma progression in formalin-fixed tumor samples from three patients. The resulting comprehensive annotation of the genomic events includes copy number neutral translocations that disrupt tumor suppressor genes such as NF1, whole chromosome arm exchanges that result in loss of CDKN2A, and whole-arm copy-number neutral loss of homozygosity involving PTEN. These findings show that large-scale chromosomal rearrangements occur throughout cancer evolution and that characterizing these events yields insights into drivers of melanoma progression.

Indexed as

Chromosome AberrationsMelanomaChromosomesDNA Copy Number VariationsHumansTranslocation, Genetic

Identifiers

PMID37932252
PMCPMC10628133
OpenAlexW4388417687

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.