Allele-specific multi-sample copy number segmentation in ASCAT.


Journal

Bioinformatics (Oxford, England)
ISSN: 1367-4811
Titre abrégé: Bioinformatics
Pays: England
ID NLM: 9808944

Informations de publication

Date de publication:
27 07 2021
Historique:
received: 09 09 2019
revised: 08 04 2020
accepted: 19 05 2020
pubmed: 26 5 2020
medline: 10 8 2021
entrez: 26 5 2020
Statut: ppublish

Résumé

Allele-specific copy number alterations are commonly used to trace the evolution of tumours. A key step of the analysis is to segment genomic data into regions of constant copy number. For precise phylogenetic inference, breakpoints shared between samples need to be aligned to each other. Here, we present asmultipcf, an algorithm for allele-specific segmentation of multiple samples that infers private and shared segment boundaries of phylogenetically related samples. The output of this algorithm can directly be used for allele-specific copy number calling using ASCAT. asmultipcf is available as part of the ASCAT R package (version ≥2.5) from github.com/Crick-CancerGenomics/ascat/.

Identifiants

pubmed: 32449758
pii: 5843787
doi: 10.1093/bioinformatics/btaa538
pmc: PMC8317109
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1909-1911

Subventions

Organisme : Winton Group Leader
Organisme : Wellcome Trust
ID : FC001202
Pays : United Kingdom
Organisme : Arthritis Research UK
ID : FC001202
Pays : United Kingdom
Organisme : Cancer Research UK Cambridge Institute
ID : C14303/A17197
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Royal Society Wolfson Research Merit
Organisme : Medical Research Council
ID : FC001202
Pays : United Kingdom
Organisme : Cancer Research UK
ID : FC001202
Pays : United Kingdom

Informations de copyright

© The Author(s) 2021. Published by Oxford University Press.

Références

Cell Rep. 2019 May 28;27(9):2690-2708.e10
pubmed: 31141692
BMC Genomics. 2012 Nov 04;13:591
pubmed: 23442169
PLoS Med. 2015 Feb 24;12(2):e1001789
pubmed: 25710373
Sci Rep. 2016 Sep 22;6:33918
pubmed: 27653089
Proc Natl Acad Sci U S A. 2010 Sep 28;107(39):16910-5
pubmed: 20837533
Nat Commun. 2020 Sep 2;11(1):4301
pubmed: 32879317

Auteurs

Edith M Ross (EM)

Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge CB2 0RE, UK.

Kerstin Haase (K)

The Francis Crick Institute, London NW1 1AT, UK.

Peter Van Loo (P)

The Francis Crick Institute, London NW1 1AT, UK.

Florian Markowetz (F)

Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge CB2 0RE, UK.

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Classifications MeSH