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CNETML: maximum likelihood inference of phylogeny from copy number profiles of multiple samples

Lu, Bingxin; Curtius, Kit; Graham, Trevor A; Yang, Ziheng; Barnes, Chris P; (2023) CNETML: maximum likelihood inference of phylogeny from copy number profiles of multiple samples. Genome biology , 24 , Article 144. 10.1186/s13059-023-02983-0. Green open access

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Abstract

Phylogenetic trees based on copy number profiles from multiple samples of a patient are helpful to understand cancer evolution. Here, we develop a new maximum likelihood method, CNETML, to infer phylogenies from such data. CNETML is the first program to jointly infer the tree topology, node ages, and mutation rates from total copy numbers of longitudinal samples. Our extensive simulations suggest CNETML performs well on copy numbers relative to ploidy and under slight violation of model assumptions. The application of CNETML to real data generates results consistent with previous discoveries and provides novel early copy number events for further investigation.

Type: Article
Title: CNETML: maximum likelihood inference of phylogeny from copy number profiles of multiple samples
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/s13059-023-02983-0
Publisher version: https://doi.org/10.1186/s13059-023-02983-0
Language: English
Additional information: © The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Keywords: Phylogeny inference, Copy number alteration, Maximum likelihood, Model of evolution, Low-coverage sequencing
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Cell and Developmental Biology
URI: https://discovery.ucl.ac.uk/id/eprint/10172612
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