Characterization of clinically relevant rna alterations for personalized cancer medicine

Abstract

Alternative Splicing is a major contributor to the transcriptome diversity. Several works have shown evidence on how aberrant splicing is linked to several diseases, like cancer. The study of splicing alterations allows researchers to elucidate the mechanisms occurring during cancer progression. This is opening new targets for cancer therapy. The following thesis addresses two questions: the development of computational methods for the study of RNA splicing alterations and their application in cancer samples for personalized medicine. The thesis starts with an introduction about all aspects of alternative splicing, its regulation, and connection with life and disease. The results are based on previous publications about case studies in which we developed and applied methods for extracting relevant RNA alterations in cancer samples. It ends by discussing the results obtained and highlighting the obtained conclusions and the bibliography consulted.