Evidence map›Paper›PMID 32024845›Full record

ArticleNature communications2020

Inferring structural variant cancer cell fraction.

Marek Cmero, Ke Yuan, Cheng Soon Ong, Jan Schröder, PCAWG Evolution and Heterogeneity Working Group, Niall M Corcoran, Tony Papenfuss, Christopher M Hovens, Florian Markowetz, Geoff Macintyre and 1 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
2.5field-weighted citation impact, top 10% 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

34 citing papers in PubMed, 55 citations in OpenAlex.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 20 institutions in 36 countries.

Marek Cmero *Department of Surgery, Division of Urology, Royal Melbourne Hospital and University of Melbourne, Parkville, VIC, 3050, Australia. cmerom@unimelb.edu.au.ORCID http://orcid.org/0000-0001-7783-5530
Ke Yuan *School of Computing Science, University of Glasgow, Sir Alwyn Williams Building, Glasgow, G12 8RZ, UK.ORCID http://orcid.org/0000-0002-2318-1460
Cheng Soon OngElectrical and Electronic Engineering, University of Melbourne, Parkville, VIC, 3010, Australia.ORCID http://orcid.org/0000-0002-2302-9733
Jan SchröderBioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
PCAWG Evolution and Heterogeneity Working Group
Niall M CorcoranDepartment of Surgery, Division of Urology, Royal Melbourne Hospital and University of Melbourne, Parkville, VIC, 3050, Australia.
Tony PapenfussBioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.ORCID http://orcid.org/0000-0002-1102-8506
Christopher M HovensDepartment of Surgery, Division of Urology, Royal Melbourne Hospital and University of Melbourne, Parkville, VIC, 3050, Australia.
Florian MarkowetzCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, CB2 0RE, UK.ORCID http://orcid.org/0000-0002-2784-5308
Geoff MacintyreDepartment of Computing and Information Systems, University of Melbourne, Parkville, VIC, 3010, Australia. geoff.macintyre@cruk.cam.ac.uk.ORCID http://orcid.org/0000-0003-3906-467X
PCAWG Consortium
Ontario Institute for Cancer Research · CABroad Institute · USUniversity of North Carolina at Chapel Hill · USThe University of Sydney · AUGerman Cancer Research Center · DEThe University of Texas MD Anderson Cancer Center · USBGI Group (China) · CNMemorial Sloan Kettering Cancer Center · USEuropean Bioinformatics Institute · GBThe University of Melbourne · AUNational Institutes of Health · USUniversitat Pompeu Fabra · ESWellcome Sanger Institute · GBJames S. McDonnell Foundation · USThe University of Queensland · AURoyal Marsden NHS Foundation Trust · GBUniversity of Cambridge · GBUniversity of Toronto · CAOregon Health & Science University · USHarvard University · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Scott Kopetz · 1985 to 2026
$290.8M
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3M
Statistical methods for genomic analysis of heterogeneous tumorsR01CA183793 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI WANG, WENYI · 2014 to 2018
$1.7M
Cancer Research UK 15973Cancer Research UK 19274Cancer Research UK 23924Cancer Research UK 28290Cancer Research UK A15973Cancer Research UK A19274NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016672NCI NIH HHS R01 CA183793NIEHS NIH HHS P30 ES010126
6 · The paper itself

Abstract

We present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies of both SV breakends, then simultaneously estimates the cancer cell fraction and SV copy number. We assess performance using in silico mixtures of real samples, at known proportions, created from two clonal metastases from the same patient. We find that SVclone's performance is comparable to single-nucleotide variant-based methods, despite having an order of magnitude fewer data points. As part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) consortium, which aggregated whole-genome sequencing data from 2658 cancers across 38 tumour types, we use SVclone to reveal a subset of liver, ovarian and pancreatic cancers with subclonally enriched copy-number neutral rearrangements that show decreased overall survival. SVclone enables improved characterisation of SV intra-tumour heterogeneity.

Indexed as

AlgorithmsComputational BiologyComputer SimulationDNA Copy Number VariationsFemaleGene FrequencyGenome, HumanHumansLiver NeoplasmsMaleNeoplasmsOvarian NeoplasmsPancreatic NeoplasmsProstatic NeoplasmsSensitivity and SpecificityWhole Genome Sequencing

Identifiers

PMID32024845
PMCPMC7002525
OpenAlexW2994748066

What OpenQuestion holds

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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.