Evidence map›Paper›PMID 37871126›Full record

ArticlePLoS computational biology2023

Refphase: Multi-sample phasing reveals haplotype-specific copy number heterogeneity.

Thomas B K Watkins, Emma C Colliver, Matthew R Huska, Tom L Kaufmann, Emilia L Lim, Cody B Duncan, Kerstin Haase, Peter Van Loo, Charles Swanton, Nicholas McGranahan and 1 more

Abstract read
In one paragraph

Article in PLoS computational biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Trial
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  8. ZygosityPredictor.Bioinformatics advances · 2024
    Article
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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

11 authors.

Thomas B K WatkinsCancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, United Kingdom.
Emma C ColliverThe Francis Crick Institute, London, United Kingdom.
Matthew R HuskaBerlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin, Germany.
Tom L KaufmannBIFOLD-Berlin Institute for the Foundations of Learning and Data, Berlin, Germany.
Emilia L LimThe Francis Crick Institute, London, United Kingdom.
Cody B DuncanInstitute for Computational Cancer Biology (ICCB), Center for Integrated Oncology (CIO), Cancer Research Center Cologne Essen (CCCE), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0003-3127-228X
Kerstin HaaseGerman Cancer Consortium (DKTK), partner site Berlin, and German Cancer Research Center (DKFZ), Heidelberg, Germany.
Peter Van LooThe Francis Crick Institute, London, United Kingdom.
Charles SwantonThe Francis Crick Institute, London, United Kingdom.
Nicholas McGranahanCancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, United Kingdom.
Roland F SchwarzInstitute for Computational Cancer Biology (ICCB), Center for Integrated Oncology (CIO), Cancer Research Center Cologne Essen (CCCE), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0001-9155-4268

Funding

Cancer Research UK 17786Cancer Research UK 20265Cancer Research UK 20466Cancer Research UK 24956Cancer Research UK 25253Cancer Research UK 30025Wellcome Trust CC2008Wellcome Trust CC2041
6 · The paper itself

Abstract

Most computational methods that infer somatic copy number alterations (SCNAs) from bulk sequencing of DNA analyse tumour samples individually. However, the sequencing of multiple tumour samples from a patient's disease is an increasingly common practice. We introduce Refphase, an algorithm that leverages this multi-sampling approach to infer haplotype-specific copy numbers through multi-sample phasing. We demonstrate Refphase's ability to infer haplotype-specific SCNAs and characterise their intra-tumour heterogeneity, to uncover previously undetected allelic imbalance in low purity samples, and to identify parallel evolution in the context of whole genome doubling in a pan-cancer cohort of 336 samples from 99 tumours.

Indexed as

DNA Copy Number VariationsNeoplasmsAlgorithmsHaplotypesHumans

Identifiers

PMID37871126
PMCPMC10621967

What OpenQuestion holds

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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.