Evidence map›Paper›PMID 33203356›Full record

ArticleBMC bioinformatics2020

The MOBSTER R package for tumour subclonal deconvolution from bulk DNA whole-genome sequencing data.

Giulio Caravagna, Guido Sanguinetti, Trevor A Graham, Andrea Sottoriva

Open access · goldAbstract read
In one paragraph

Article in BMC bioinformatics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
1.2field-weighted citation impact, top 23% 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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.

  1. Pooled it
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  7. Review
  8. The Evolutionary Interplay of Somatic and Germline Mutation Rates.Annual review of biomedical data science · 2024
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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

4 authors at 4 institutions in 2 countries.

Giulio CaravagnaUniversity of Trieste, Trieste, Italy. gcaravagna@units.it.ORCID http://orcid.org/0000-0003-4240-3265
Guido SanguinettiInternational School for Advanced Studies, Trieste, Italy.
Trevor A GrahamBarts Cancer Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Andrea SottorivaThe Institute of Cancer Research, London, UK. andrea.sottoriva@icr.ac.uk.
Institute of Cancer Research · GBQueen Mary University of London · GBScuola Internazionale Superiore di Studi Avanzati · ITUniversity of Trieste · IT

Funding

The Role of the Microbiome in Cancer Suppression and Susceptibility Across SpeciesU54CA217376 · NCI · ARIZONA STATE UNIVERSITY-TEMPE CAMPUS · PI MALEY, CARLO · 2018 to 2022
$8.6M
Cancer Research UK 19771Cancer Research UK 22909Cancer Research UK A19771Cancer Research UK A22909Medical Research Council MR/P000789/1NCI NIH HHS U54 CA217376NIH HHS NCI U54 CA217376Wellcome Trust 105104/Z/14/ZWellcome Trust 202778/B/16/ZWellcome Trust 202778/Z/16/Z
6 · The paper itself

Abstract

backgroundThe large-scale availability of whole-genome sequencing profiles from bulk DNA sequencing of cancer tissues is fueling the application of evolutionary theory to cancer. From a bulk biopsy, subclonal deconvolution methods are used to determine the composition of cancer subpopulations in the biopsy sample, a fundamental step to determine clonal expansions and their evolutionary trajectories.

resultsIn a recent work we have developed a new model-based approach to carry out subclonal deconvolution from the site frequency spectrum of somatic mutations. This new method integrates, for the first time, an explicit model for neutral evolutionary forces that participate in clonal expansions; in that work we have also shown that our method improves largely over competing data-driven methods. In this Software paper we present mobster, an open source R package built around our new deconvolution approach, which provides several functions to plot data and fit models, assess their confidence and compute further evolutionary analyses that relate to subclonal deconvolution.

conclusionsWe present the mobster package for tumour subclonal deconvolution from bulk sequencing, the first approach to integrate Machine Learning and Population Genetics which can explicitly model co-existing neutral and positive selection in cancer. We showcase the analysis of two datasets, one simulated and one from a breast cancer patient, and overview all package functionalities.

Indexed as

SoftwareWhole Genome SequencingBreast NeoplasmsCell ProliferationClone CellsData AnalysisDNA, NeoplasmFemaleGenetics, PopulationHumansMachine LearningModels, GeneticMutationDNA, NeoplasmCancer evolutionDirichlet mixture modelPopulation geneticsTumour subclonal deconvolutionWhole-genome DNA sequencing

Identifiers

PMID33203356
PMCPMC7672894
OpenAlexW3101619682

What OpenQuestion holds

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LicenceCC BY
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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.