RT Dissertation/Thesis
T1 The dynamics of somatic retrotransposition in human cancer
A1 Zumalave Duro, Sonia
K1 cancer
K1 tumour evolution
K1 somatic mutation
K1 structural variants
K1 retrotransposition
AB Somatic retrotransposition can significantly contribute to tumorigenesis. Yet,limitations imposed byshort-read sequencing have hindered a thoroughunderstanding of the extent and impact of this mutational process. Toovercome this, my PhD project focused on implementing innovative long-readsequencing techniques. We developed MEIGA, a bioinformatic pipeline forcomprehensively analysing somatic retrotransposition in long-read sequencingdata. Notably, MEIGA revealed previously undisclosed levels of somaticretrotransposition in human tumours, including a hidden landscape ofreciprocal genomic rearrangements. Additionally, this work unveiledremarkable rates of somatic retrotransposition occurring years before tumourdiagnosis, even within normal cells, providing valuable insights into somaticretrotransposition dynamics.
YR 2024
FD 2024
LK http://hdl.handle.net/10347/33039
UL http://hdl.handle.net/10347/33039
LA eng
DS Minerva
RD 4 may 2026