Background: Cancer progression reconstruction is an important development stemming from the phylogenetics field. In this context, the reconstruction of the phylogeny representing the evolutionary history presents some peculiar aspects that depend on the technology used to obtain the data to analyze: Single Cell DNA Sequencing data have great specificity, but are affected by moderate false negative and missing value rates. Moreover, there has been some recent evidence of back mutations in cancer: this phenomenon is currently widely ignored. Results: We present a new tool, gpps, that reconstructs a tumor phylogeny from Single Cell Sequencing data, allowing each mutation to be lost at most a fixed number of times. The General Parsimony Phylogeny from Single cell (gpps) tool is open source and available at https://github.com/AlgoLab/gpps. Conclusions: gpps provides new insights to the analysis of intra-tumor heterogeneity by proposing a new progression model to the field of cancer phylogeny reconstruction on Single Cell data.

gpps: an ILP-based approach for inferring cancer progression with mutation losses from single cell data / S. Ciccolella, M. Soto Gomez, M.D. Patterson, G. Della Vedova, I. Hajirasouliha, P. Bonizzoni. - In: BMC BIOINFORMATICS. - ISSN 1471-2105. - 21:suppl. 1(2020 Dec 09), pp. 413.1-413.16. (Intervento presentato al 8. convegno IEEE International Conference on Computational Advances in Bio and medical Sciences (IEEE ICCABS) tenutosi a Las Vegas (Nevada) nel 2018) [10.1186/s12859-020-03736-7].

gpps: an ILP-based approach for inferring cancer progression with mutation losses from single cell data

M. Soto Gomez
Secondo
;
2020

Abstract

Background: Cancer progression reconstruction is an important development stemming from the phylogenetics field. In this context, the reconstruction of the phylogeny representing the evolutionary history presents some peculiar aspects that depend on the technology used to obtain the data to analyze: Single Cell DNA Sequencing data have great specificity, but are affected by moderate false negative and missing value rates. Moreover, there has been some recent evidence of back mutations in cancer: this phenomenon is currently widely ignored. Results: We present a new tool, gpps, that reconstructs a tumor phylogeny from Single Cell Sequencing data, allowing each mutation to be lost at most a fixed number of times. The General Parsimony Phylogeny from Single cell (gpps) tool is open source and available at https://github.com/AlgoLab/gpps. Conclusions: gpps provides new insights to the analysis of intra-tumor heterogeneity by proposing a new progression model to the field of cancer phylogeny reconstruction on Single Cell data.
hill climbing; integer linear programming; phylogeny; single cell sequencing
Settore INF/01 - Informatica
Settore MAT/09 - Ricerca Operativa
9-dic-2020
Institute of Electrical and Electronics Engineers
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/961445
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