The impact of transposable elements on the structure and function of the cancer genome

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URI: http://hdl.handle.net/10347/28860

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2022

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This PhD dissertation provides further insights on the impact of retrotransposon mobilisation in the cancer genome. Through the analysis of a large cohort of 2,954 cancer whole genomes compiled by the Pan-Cancer Analysis of Whole Genomes Consortium, we have investigated the patterns of somatic activity for mobile elements across 38 different tumour types, uncovered novel mechanisms of mutation mediated by LINE-1 elements and characterised more than 100 full-length LINE-1 loci active in cancer.

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Retrotransposones| Cancer| Biología Computacional

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Attribution-NonCommercial-NoDerivatives 4.0 Internacional

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Área de Ciencias da Saúde