Evidence map›Paper›PMID 34217219›Full record

ArticleBMC bioinformatics2021

PhyliCS: a Python library to explore scCNA data and quantify spatial tumor heterogeneity.

Marilisa Montemurro, Elena Grassi, Carmelo Gabriele Pizzino, Andrea Bertotti, Elisa Ficarra, Gianvito Urgese

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Article in BMC bioinformatics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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6 authors.

Marilisa MontemurroDepartment of Control and Computer Science, Politecnico di Torino, C.so Duca degli Abruzzi 24, 10129, Turin, Italy. marilisa.montemurro@polito.it.ORCID http://orcid.org/0000-0001-5643-1385
Elena GrassiDepartment of Oncology, University of Torino, Strada Provinciale, 142 - KM 3.95, 10060, Candiolo, Turin, Italy.
Carmelo Gabriele PizzinoDepartment of Oncology, University of Torino, Strada Provinciale, 142 - KM 3.95, 10060, Candiolo, Turin, Italy.
Andrea BertottiDepartment of Oncology, University of Torino, Strada Provinciale, 142 - KM 3.95, 10060, Candiolo, Turin, Italy.
Elisa FicarraEnzo Ferrari Engineering Dept, University of Modena and Reggio Emilia, Via Vivarelli 10/1, 41125, Modena, Italy.
Gianvito UrgeseInteruniversity Department of Regional and Urban Studies and Planning, Politecnico di Torino, C.so Duca degli Abruzzi 24, 10129, Turin, Italy.

Funding

Associazione Italiana per la Ricerca sul Cancro 21091European Research Council Consolidator 724748 BEAT
6 · The paper itself

Abstract

backgroundTumors are composed by a number of cancer cell subpopulations (subclones), characterized by a distinguishable set of mutations. This phenomenon, known as intra-tumor heterogeneity (ITH), may be studied using Copy Number Aberrations (CNAs). Nowadays ITH can be assessed at the highest possible resolution using single-cell DNA (scDNA) sequencing technology. Additionally, single-cell CNA (scCNA) profiles from multiple samples of the same tumor can in principle be exploited to study the spatial distribution of subclones within a tumor mass. However, since the technology required to generate large scDNA sequencing datasets is relatively recent, dedicated analytical approaches are still lacking.

resultsWe present PhyliCS, the first tool which exploits scCNA data from multiple samples from the same tumor to estimate whether the different clones of a tumor are well mixed or spatially separated. Starting from the CNA data produced with third party instruments, it computes a score, the Spatial Heterogeneity score, aimed at distinguishing spatially intermixed cell populations from spatially segregated ones. Additionally, it provides functionalities to facilitate scDNA analysis, such as feature selection and dimensionality reduction methods, visualization tools and a flexible clustering module.

conclusionsPhyliCS represents a valuable instrument to explore the extent of spatial heterogeneity in multi-regional tumour sampling, exploiting the potential of scCNA data.

Indexed as

DNA Copy Number VariationsNeoplasmsCluster AnalysisGenetic HeterogeneityHumansSequence Analysis, DNASingle-Cell AnalysisAlgorithmsCancer evolutionClonesDNAIntra-tumor heterogeneitySingle-cell sequencing

Identifiers

PMID34217219
PMCPMC8254361

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