Evidence map›Paper›PMID 33654267›Full record

ReviewNPJ precision oncology2021

Structural variant detection in cancer genomes: computational challenges and perspectives for precision oncology.

Ianthe A E M van Belzen, Alexander Schönhuth, Patrick Kemmeren, Jayne Y Hehir-Kwa

Abstract readReview
In one paragraph

Review in NPJ precision oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.

0numbers the graph read from it
0cells of the map it votes in
65citing 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

65 citing papers in PubMed.

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  15. Whole-Genome Landscape of Retinal Hemangioblastomas.Translational vision science & technology · 2026
    Article
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5 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

4 authors.

Ianthe A E M van BelzenPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0003-2377-3586
Alexander SchönhuthGenome Data Science, Faculty of Technology, Bielefeld University, Bielefeld, Germany.
Patrick KemmerenPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0003-2237-7354
Jayne Y Hehir-KwaPrincess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands. J.Y.HehirKwa@prinsesmaximacentrum.nl.ORCID http://orcid.org/0000-0003-0837-304X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cancer is generally characterized by acquired genomic aberrations in a broad spectrum of types and sizes, ranging from single nucleotide variants to structural variants (SVs). At least 30% of cancers have a known pathogenic SV used in diagnosis or treatment stratification. However, research into the role of SVs in cancer has been limited due to difficulties in detection. Biological and computational challenges confound SV detection in cancer samples, including intratumor heterogeneity, polyploidy, and distinguishing tumor-specific SVs from germline and somatic variants present in healthy cells. Classification of tumor-specific SVs is challenging due to inconsistencies in detected breakpoints, derived variant types and biological complexity of some rearrangements. Full-spectrum SV detection with high recall and precision requires integration of multiple algorithms and sequencing technologies to rescue variants that are difficult to resolve through individual methods. Here, we explore current strategies for integrating SV callsets and to enable the use of tumor-specific SVs in precision oncology.

Identifiers

PMID33654267
PMCPMC7925608

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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.