Castro Tubío, José ManuelZumalave Duro, Sonia2024-03-072024http://hdl.handle.net/10347/33039Somatic retrotransposition can significantly contribute to tumorigenesis. Yet, limitations imposed byshort-read sequencing have hindered a thorough understanding of the extent and impact of this mutational process. To overcome this, my PhD project focused on implementing innovative long-read sequencing techniques. We developed MEIGA, a bioinformatic pipeline for comprehensively analysing somatic retrotransposition in long-read sequencing data. Notably, MEIGA revealed previously undisclosed levels of somatic retrotransposition in human tumours, including a hidden landscape of reciprocal genomic rearrangements. Additionally, this work unveiled remarkable rates of somatic retrotransposition occurring years before tumour diagnosis, even within normal cells, providing valuable insights into somatic retrotransposition dynamics.engAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/cancertumour evolutionsomatic mutationstructural variantsretrotransposition241007 Genética humanadoctoral thesisopen access