Evidence map›Paper›PMID 36776527›Full record

ArticleCell genomics2022

Unscrambling cancer genomes via integrated analysis of structural variation and copy number.

Charles Shale, Daniel L Cameron, Jonathan Baber, Marie Wong, Mark J Cowley, Anthony T Papenfuss, Edwin Cuppen, Peter Priestley

Abstract read
In one paragraph

Article in Cell genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.

0numbers the graph read from it
0cells of the map it votes in
66citing 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

66 citing papers in PubMed.

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6 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

8 authors.

Charles ShaleHartwig Medical Foundation Australia, Sydney, NSW, Australia.
Daniel L CameronHartwig Medical Foundation Australia, Sydney, NSW, Australia.
Jonathan BaberHartwig Medical Foundation Australia, Sydney, NSW, Australia.
Marie WongChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Mark J CowleyChildren's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia.
Anthony T PapenfussBioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Edwin CuppenHartwig Medical Foundation, Science Park 408, Amsterdam, the Netherlands.
Peter PriestleyHartwig Medical Foundation Australia, Sydney, NSW, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Complex somatic genomic rearrangements and copy number alterations are hallmarks of nearly all cancers. We have developed an algorithm, LINX, to aid interpretation of structural variant and copy number data derived from short-read, whole-genome sequencing. LINX classifies raw structural variant calls into distinct events and predicts their effect on the local structure of the derivative chromosome and the functional impact on affected genes. Visualizations facilitate further investigation of complex rearrangements. LINX allows insights into a diverse range of structural variation events and can reliably detect pathogenic rearrangements, including gene fusions, immunoglobulin enhancer rearrangements, intragenic deletions, and duplications. Uniquely, LINX also predicts chained fusions that we demonstrate account for 13% of clinically relevant oncogenic fusions. LINX also reports a class of inactivation events that we term homozygous disruptions that may be a driver mutation in up to 9% of tumors and may frequently affect

Indexed as

cancer genomicsecDNAgene fusiongenomic rearrangementgenomic shardhomozygous disruptionLINXmobile element insertionreciprocal duplicationstructural variation

Identifiers

PMID36776527
PMCPMC9903802

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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.