Somatic DNA mutations are a characteristic of cancerous cells, being usually key in the origin and development of cancer. In the last few years, somatic mutations have been studied in order to understand which processes or conditions may generate them, with the purpose of developing prevention and treatment strategies. In this work we propose a novel sparse regularised method that aims at extracting mutational signatures from somatic mutations. We developed a pipeline that extracts the dataset from raw data and performs the analysis returning the signatures and their relative usage frequencies. A thorough comparison between our method and the state of the art procedure reveals that our pipeline can be used alternatively without losing information and possibly gaining more interpretability and precision.

Cancer mutational signatures identification with sparse dictionary learning

Tozzo, Veronica;Barla, Annalisa
2019

Abstract

Somatic DNA mutations are a characteristic of cancerous cells, being usually key in the origin and development of cancer. In the last few years, somatic mutations have been studied in order to understand which processes or conditions may generate them, with the purpose of developing prevention and treatment strategies. In this work we propose a novel sparse regularised method that aims at extracting mutational signatures from somatic mutations. We developed a pipeline that extracts the dataset from raw data and performs the analysis returning the signatures and their relative usage frequencies. A thorough comparison between our method and the state of the art procedure reveals that our pipeline can be used alternatively without losing information and possibly gaining more interpretability and precision.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11567/942949
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